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This narrative review aims to describe the current status of contrast-enhanced ultrasound (CEUS) in characterizing renal cystic lesion. The imaging techniques usually performed for their evaluation are ultrasonography (US), computed tomography (CT), and magnetic resonance imaging (MRI) with different criteria of application based on the individual case and the purpose of the examination. Generally, US, as a non-ionizing examination, is the first imaging modality performed and therefore the one that incidentally detects cystic lesions. CT is the most performed imaging modality for cystic lesion assessment before MRI evaluation. It provides better characterization and management and has been introduced into the Bosniak classification. In this context, CEUS is making its way for its characteristics and represents the emerging technique in this field. With these premises, the authors analyze the role of CEUS in the evaluation of renal cysts, starting with an explanation of the technique, describe its main advantages and limitations, and end with a discussion of its application in the Bosniak classification and management, following the current major guidelines. [ABSTRACT FROM AUTHOR]

The finding of a simple kidney cyst in a child can pose a diagnostic and management challenge for pediatric nephrologists, urologists, and primary care providers. The reported prevalence varies from 0.22 to 1% in large ultrasonography-based series of more than 10,000 children each. The true prevalence, however, may be higher or lower, as factors such as variations in referral patterns, indications for ultrasonography, or technical considerations could impact prevalence rates. For many patients, simple kidney cysts may be found incidentally when imaging is performed for another indication. Although simple cysts can occur in children, they may also represent the first sign of autosomal dominant polycystic kidney disease (ADPKD) or other less common cystic kidney diseases. Definitive guidelines regarding the evaluation and monitoring of children with simple kidney cysts have not been established. The desire on the part of the practitioner and/or parents to establish a definitive diagnosis should be balanced with the cost and inconvenience of repeated imaging and visits with specialists. The goals of this review are to (1) outline the definition, epidemiology, clinical presentation, and natural history of simple kidney cysts in childhood; (2) describe clinical features that could suggest a diagnosis other than a simple kidney cyst; and (3) present a suggested framework for evaluating and monitoring of children with one or more simple kidney cysts. [ABSTRACT FROM AUTHOR]

The authors describe a kidney transplant procedure using a living donor with a large cyst and double arteries. Due to the lack of regular transplant activity from a deceased donors, we decided to use the, so called, expanded criteria living donors, which means older age (more than 65 years), hypertension, some structural anomalies of the kidneys (cysts, multiple renal arteries), ABO incompatible kidney transplant, etc. The surgical procedure was the unroofing of a large cyst and wadding with perirenal fat. The 10 years survival rate is quite successful and we can recommend it. [ABSTRACT FROM AUTHOR]

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Introduction: Incidental kidneys cysts are typically considered benign, but the presence of cysts is more frequent in individuals with other early markers of kidney disease. We studied the association of donor kidney cysts with donor and recipient outcomes after living donor kidney transplantation. Methods: We retrospective identified 860 living donor transplants at our center (1/1/2011–7/31/2022) without missing data. Donor cysts were identified by review of pre‐donation CT scan reports. We used linear regression to study the association between donor cysts and 6‐month single‐kidney estimated glomerular filtration rate (eGFR) increase, and time‐to‐event analyses to study the association between donor cysts and recipient death‐censored graft failure. Results: Among donors, 77% donors had no kidney cysts, 13% had ≥1 cyst on the kidney not donated, and 11% only had cysts on the donated kidney. In adjusted linear regression, cysts on the donated kidney and kidney not donated were not significantly associated with 6‐month single‐kidney eGFR increase. Among transplants, 17% used a transplanted kidney with a cyst and 6% were from donors with cysts only on the kidney not transplanted. There was no association between donor cyst group and post‐transplant death‐censored graft survival. Results were similar in sensitivity analyses comparing transplants using kidneys with no cysts versus 1–2 cysts versus ≥3 cysts. Conclusions: Kidney cysts in living kidney donors were not associated with donor kidney recovery or recipient allograft longevity, suggesting incidental kidney cysts need not be taken into account when determining living donor candidate suitability or the laterality of planned donor nephrectomy. [ABSTRACT FROM AUTHOR]

BackgroundA limiting factor in expanding the kidney donor pool is donor kidneys with renal tumors or cysts. Partial nephrectomy (PN) to remove these lesions prior to transplantation may help optimize organ usage without recurrence of malignancy or increased risk of complications.MethodsWe retrospectively analyzed all recipients of a living or deceased donor graft between February 2009 and October 2022 in which a PN was performed prior to transplant due to the presence of one or more concerning growths. Donor and recipient demographics, perioperative data, donor allograft pathology, and recipient outcomes were obtained.ResultsThirty-six recipients received a graft in which a PN was performed to remove suspicious masses or cysts prior to transplant. Majority of pathologies turned out to be a simple renal cyst (65%), followed by renal cell carcinoma (15%), benign multilocular cystic renal neoplasm (7.5%), angiomyolipoma (5%), benign renal tissue (5%), and papillary adenoma (2.5%). No renal malignancy recurrences were observed during the study period (median follow-up: 67.2 months). Fourteen complications occurred among 11 patients (30.6% overall) during the first 6mo post-transplant. Mean eGFR (± standard error) at 36 months post-transplant was 51.9 ± 4.2 ml/min/1.73 m2 (N = 23). Three death-censored graft losses and four deaths with a functioning graft and were observed.ConclusionPN of renal grafts with suspicious looking masses or cysts is a safe option to optimize organ usage and decrease the kidney non-use rate, with no observed recurrence of malignancy or increased risk of complications.

IntroductionGenetic kidney diseases are underdiagnosed; namely, from 7% to 40% of patients suffering from chronic kidney disease (CKD) can carry a pathogenic variant, depending on population characteristics. Hereditary tubulointerstitial kidney diseases, including autosomal dominant tubulointerstitial kidney diseases (ADTKD), are even more challenging to diagnose. ADTKD is a rare form of genetic kidney disease resulting from pathogenic variants in the MUC1, UMOD, HNF1B, REN, SEC61A1, and DNAJB11 genes. There is no typical clinical or histopathological sign of ADTKD, it is characterized by progressive CKD, an autosomal dominant inheritance pattern, and tubular atrophy with interstitial fibrosis on kidney biopsy. There is no significant proteinuria, and the urinary sediment is bland. The patients usually do not have severe arterial hypertension. There can be a history of early gout, especially when compared to the UMOD gene variants. Children can have enuresis due to a loss of renal concentration. On ultrasound, the kidneys can appear normal or small in size. Renal cysts are not pathognomonic for any of the named diseases. End-stage renal disease (ESRD) develops at the average age of 45, but this can be very variable. Family history that suggests autosomal dominant inheritance and CKD fulfilling the aforementioned characteristics of tubulointerstitial kidney disease should raise suspicion of ADTKD. In the setting of a negative family history for CKD, clinical suspicion should be raised based on clinical characteristics, including early onset of hyperuricemia or gout and compatible histology on the kidney biopsy. Contrary to the aforementioned characteristics of ADTKD, in the case of HNF1B-related disease, there is a more complex clinical presentation with extrarenal manifestations of the disease (diabetes mellitus, hypomagnesemia, neurologic and psychiatric disturbances, etc.). The diagnosis of ADTKD is based on a positive family history and a detection of the pathogenic variant in one of the genes in an affected individual.AimThe aim of our study is to present two case reports of ADTKD with different characteristics (slowly progressive CKD vs. complex clinical presentation with an extrarenal manifestation of the disease) with a literature review.MethodsA 34-year-old patient with CKD and a positive family history of CKD in whom kidney biopsy showed nonspecific chronic changes, with only genetic analysis confirming the diagnosis of MUC1-related ADTKD. Our second case is of a 17-year-old patient with an unremarkable family history who was initially referred to genetic counseling due to cognitive and motor impairment with long-lasting epilepsy. Extensive workup revealed increased serum creatinine levels with no proteinuria and bland urinary sediment, along with hypomagnesemia. His genetic analysis revealed 17q12 deletion syndrome, causing the loss of one copy of the HNF1B gene, the AATF, and the LHX1 gene.ConclusionAutosomal dominant tubulointerstitial kidney diseases are challenging to diagnose due to a lack of typical clinical or histopathological signs as well as an uncharacteristic and versatile clinical presentation. Increased clinical awareness is crucial for the detection of these diseases.

Background: Horseshoe kidney is a well-known congenital anomaly and the most common anomaly of the upper urinary tract. This condition is rarely associated with anomalous inferior vena cava (IVC). Polycystic horseshoe kidney is a very rare occurrence and however IVC anomalies common with polycistic disease are an increasingly recognized risk factor for iliofemoral deep venous thrombosis. Method: We present a case of 75-year-old patient with recurrent deep vein thrombosis (DVT) of right leg as a result of compression of large horseshoe kidney cysts in double inferior vena cava. Results: Large renal cyst were successful treated percutaneously punctured for the relief of compression and received injection of acidic solutions of 95% ethanol under ultrasound guidance for prevention against re-accumulation of cyst fluid. Conclusion: Percutaneous aspiration with ultrasound guidance with injection of sclerosing solutions as a relatively simple procedure and can be the method of choice for treatment of renal cysts. Also, any recurrent deep vein thrombosis on lower extremity requires additional evaluation in the form of an ultrasound or multidetector computed tomography examination of the abdomen. [ABSTRACT FROM AUTHOR]

Background: Echinococcosis is a zoonotic tapeworm infection caused by Echinococcus granulosus, occasionally affecting humans. The larval infection most commonly affects the liver and lungs and very rarely the kidneys. Objective: The present systematic review compiles data regarding clinical presentations, diagnostic modalities, management strategies and recurrences in children with isolated renal hydatid cysts. Methods: A comprehensive search was done in major databases PubMed and Google Scholar using defined search terms encompassing case reports or case series on isolated renal hydatid cysts in children. The identified reports underwent screening by three different authors for inclusion and exclusion criteria. Results: The median (range) age at presentation of isolated renal hydatid disease was 10 (6) years with female preponderance (52.7%). Most common presenting symptom and sign were abdominal pain (64.8%) and palpable abdominal mass (56.7%), respectively. Ultrasonography (94.5%) was most common diagnostic method. Patients were primarily managed with surgical interventions (95.5%) and only 2/37 were managed solely by medical management for a median duration of 3.5 weeks. Laparoscopic cystectomy was the most commonly used surgical procedure (45.9%). Recurrence was observed to be rare, seen in only 3 cases. Conclusion: Hydatid cysts need to be considered in the differential diagnosis of renal cysts. Radiological evaluation with pathological confirmation enables diagnosis. Surgery combined with adjuvant anti-parasitic chemotherapy is used to treat the condition.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a frequent cause of end-stage renal disease. Despite improvements in blood pressure and conventional treatment, there seems not any significant impact on the need for renal replacement therapy in these cases. Inhibition of cyclic adenosine monophosphate pathway by tolvaptan was efficient in preclinical/animal studies and in clinical studies involving ADPKD patients; tolvaptan (vasopressin V2 receptor antagonist) has been recently released in the market to delay disease progression. Aims and Objectives: The aim of this study is to evaluate the role of tolvaptan in reduction of total kidney volume (TKV), total renal cyst volume, and decrease of progression of renal impairment and restoration of kidney function. Materials and Methods: We have screened 60 cases, of whom 54 were assigned to either tolvaptan group (36) or placebo (18). Overall 36 cases completed the trial (24 from tolvaptan group and 12 cases from placebo group). Estimated GFR (glomerular filtration rate) calculated and stages were noted. TKV and total cyst volume measured by ultrasonography at days 0, 30, 90, and 180 along with other vitals. The total number of patients enrolled was randomly divided into two broad groups by concealed envelop technique: Intervention group (with tolvaptan) and placebo or control group. The intervention group was given tolvaptan along with standard conventional management for ADPKD as per relevant stages. The placebo group was given placebo tablets with same size and color (multivitamin tablet) along with standard conventional management for ADPKD as per relevant stages. The periodic estimation of cyst volume, kidney volume, serum creatinine level, and estimated glomerular filtration rate recorded and analyzed with ANOVA method with confidence interval 95%. Results: Analysis of the data showed fewer ADPKD-related events per cases of follow-up with tolvaptan than with placebo. These results were confirmed by the analysis of the 1st time and after 6 months of study. Our data suggest that increase of TKV and total cyst volume was less in tolvaptan group as compared to placebo group. Overall, treatment effect on the growth of TKV was 0.219% per month with a P

Cystic kidney disease comprises a broad group of heterogeneous diseases, which differ greatly in age at onset, disease manifestation, systemic involvement, disease progression, and long-term prognosis. As our understanding of these diseases continues to evolve and new treatment strategies continue to emerge, correctly differentiating and diagnosing these diseases becomes increasingly important. In this review, we aim to highlight the key features of the most relevant cystic kidney diseases, underscore important diagnostic characteristics of each disease, and present specific management options if applicable. [ABSTRACT FROM AUTHOR]

The hepatocyte nuclear factor 1β (HNF1B) gene is involved in the development of specialized epithelia of several organs during the early and late phases of embryogenesis, performing its function mainly by regulating the cell cycle and apoptosis pathways. The first pathogenic variant of HNF1B (namely, R177X) was reported in 1997 and is associated with the maturity-onset diabetes of the young. Since then, more than 230 different HNF1B variants have been reported, revealing a multifaceted syndrome with complex and heterogenous genetic, pathologic, and clinical profiles, mainly affecting the pediatric population. The pancreas and kidneys are the most frequently affected organs, resulting in diabetes, renal cysts, and a decrease in renal function, leading, in 2001, to the definition of HNF1B deficiency syndrome, including renal cysts and diabetes. However, several other organs and systems have since emerged as being affected by HNF1B defect, while diabetes and renal cysts are not always present. Especially, liver involvement has generally been overlooked but recently emerged as particularly relevant (mostly showing chronically elevated liver enzymes) and with a putative relation with tumor development, thus requiring a more granular analysis. Nowadays, HNF1B-associated disease has been recognized as a clinical entity with a broader and more variable multisystem phenotype, but the reasons for the phenotypic heterogeneity are still poorly understood. In this review, we aimed to describe the multifaceted nature of HNF1B deficiency in the pediatric and adult populations: we analyzed the genetic, phenotypic, and clinical features of this complex and misdiagnosed syndrome, covering the most frequent, unusual, and recently identified traits. [ABSTRACT FROM AUTHOR]

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a frequent cause of end-stage renal disease. Despite improvements in blood pressure and conventional treatment, there seems not any significant impact on the need for renal replacement therapy in these cases. Inhibition of cyclic adenosine monophosphate pathway by tolvaptan was efficient in preclinical/animal studies and in clinical studies involving ADPKD patients; tolvaptan (vasopressin V2 receptor antagonist) has been recently released in the market to delay disease progression. Aims and Objectives: The aim of this study is to evaluate the role of tolvaptan in reduction of total kidney volume (TKV), total renal cyst volume, and decrease of progression of renal impairment and restoration of kidney function. Materials and Methods: We have screened 60 cases, of whom 54 were assigned to either tolvaptan group (36) or placebo (18). Overall 36 cases completed the trial (24 from tolvaptan group and 12 cases from placebo group). Estimated GFR (glomerular filtration rate) calculated and stages were noted. TKV and total cyst volume measured by ultrasonography at days 0, 30, 90, and 180 along with other vitals. The total number of patients enrolled was randomly divided into two broad groups by concealed envelop technique: Intervention group (with tolvaptan) and placebo or control group. The intervention group was given tolvaptan along with standard conventional management for ADPKD as per relevant stages. The placebo group was given placebo tablets with same size and color (multivitamin tablet) along with standard conventional management for ADPKD as per relevant stages. The periodic estimation of cyst volume, kidney volume, serum creatinine level, and estimated glomerular filtration rate recorded and analyzed with ANOVA method with confidence interval 95%. Results: Analysis of the data showed fewer ADPKD-related events per cases of follow-up with tolvaptan than with placebo. These results were confirmed by the analysis of the 1st time and after 6 months of study. Our data suggest that increase of TKV and total cyst volume was less in tolvaptan group as compared to placebo group. Overall, treatment effect on the growth of TKV was 0.219% per month with a P<0.0001. Conclusions: The administration of tolvaptan for 6 months was associated with slowed kidney growth and functional decline and with a reduced frequency of ADPKD-related complications among patients with a relatively preserved GFR. [ABSTRACT FROM AUTHOR]

Von Hippel-Lindau syndrome (VHLS) (VON HIPPEL-LINDAU SYNDROME; VHLS OMIM # 193,300) is an inherited familial cancer predisposition syndrome caused by mutations in the VHL gene located on 3p25.3. It is a rare hereditary autosomal dominant disease with a population frequency of one in 36,000 people. VHLS is characterized by a predisposition to the development of different types of tumors with several localizations, such as visceral and central nervous system (hemangioblastoma, paraganglioma), pheochromocytoma, pancreatic cancer cell carcinoma, adenocarcinoma of ampulla of vater, hypernephroma, and kidney cancer. Affected individuals have a high lifetime risk of tumor developing—over 90% penetrance by 65 years. Herein, we present a case of a native Caucasian woman with multiple pancreatic and kidney cysts and nonsense genetic variant c.203C > A (p.S68*) in VHL gene. [ABSTRACT FROM AUTHOR]

Rationale & Objective: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare monogenic disorder caused by SLC34A3 pathogenic variants. HHRH is characterized by kidney phosphate wasting, hypophosphatemia, hypercalciuria, an elevated 1,25-dihydroxyvitamin D level, nephrocalcinosis, and urinary stone disease. Previously, we reported a 100% prevalence of kidney cysts in the related CYP24A1 deficiency. Thus, in the current study, we characterized cysts’ presence in HHRH, another monogenic cause of hypercalciuria, nephrocalcinosis, and urinary stone disease. Study Design: Case series. Setting & Participants: Medical records from the Mayo Clinic and the Rare Kidney Stone Consortium monogenic stone disease database were queried for patients with a genetically confirmed HHRH diagnosis. The number, sizes, and locations of kidney cysts in each patient were recorded. Results: Twelve patients with SLC34A3 pathogenic variants were identified (7 monoallelic, 5 biallelic). Of these, 5 (42%) were males, and the median (Q1, Q3) ages were 16 years (13, 35 years) at clinical presentation and 42 years (20, 57 years) at genetic confirmation. Kidney cysts were present in 9 of 12 (75%) patients, and the median (Q1, Q3) age at first cyst detection was 41 years (13, 50 years). The median number of cysts per patient was 2.0 (0.5, 3.5). Fifty percent of adult patients had a cyst number that exceeded the 97.5th percentile of an age- and sex-matched control population. All children had at least 2 or more total cysts. None had a family history of cystic kidney disease. Limitations: Retrospective study, possible selection bias, single-center experience. Conclusions: A strong association between HHRH and kidney cysts was observed. Similarities in the biochemical profiles of HHRH and CYP24A1 deficiency suggest elevated active vitamin D and hypercalciuria may be potential cystogenic factors. Further studies are needed to understand how genetic changes in SLC34A3 favor cyst formation.

The hepatocyte nuclear factor 1β (HNF1B) gene is involved in the development of specialized epithelia of several organs during the early and late phases of embryogenesis, performing its function mainly by regulating the cell cycle and apoptosis pathways. The first pathogenic variant of HNF1B (namely, R177X) was reported in 1997 and is associated with the maturity-onset diabetes of the young. Since then, more than 230 different HNF1B variants have been reported, revealing a multifaceted syndrome with complex and heterogenous genetic, pathologic, and clinical profiles, mainly affecting the pediatric population. The pancreas and kidneys are the most frequently affected organs, resulting in diabetes, renal cysts, and a decrease in renal function, leading, in 2001, to the definition of HNF1B deficiency syndrome, including renal cysts and diabetes. However, several other organs and systems have since emerged as being affected by HNF1B defect, while diabetes and renal cysts are not always present. Especially, liver involvement has generally been overlooked but recently emerged as particularly relevant (mostly showing chronically elevated liver enzymes) and with a putative relation with tumor development, thus requiring a more granular analysis. Nowadays, HNF1B-associated disease has been recognized as a clinical entity with a broader and more variable multisystem phenotype, but the reasons for the phenotypic heterogeneity are still poorly understood. In this review, we aimed to describe the multifaceted nature of HNF1B deficiency in the pediatric and adult populations: we analyzed the genetic, phenotypic, and clinical features of this complex and misdiagnosed syndrome, covering the most frequent, unusual, and recently identified traits.

The supernumerary kidney is an extremely rare, congenital renal anomaly and there are less than 100 cases reported in the current literature. This renal anomaly has its own collecting system, blood supply and well-defined encapsulated tissue. We report a case of left supernumerary kidney and solitary cyst of left native kidney in a 51-year-old man.

Background: A limiting factor in expanding the kidney donor pool is donor kidneys with renal tumors or cysts. Partial nephrectomy (PN) to remove these lesions prior to transplantation may help optimize organ usage without recurrence of malignancy or increased risk of complications., Methods: We retrospectively analyzed all recipients of a living or deceased donor graft between February 2009 and October 2022 in which a PN was performed prior to transplant due to the presence of one or more concerning growths. Donor and recipient demographics, perioperative data, donor allograft pathology, and recipient outcomes were obtained., Results: Thirty-six recipients received a graft in which a PN was performed to remove suspicious masses or cysts prior to transplant. Majority of pathologies turned out to be a simple renal cyst (65%), followed by renal cell carcinoma (15%), benign multilocular cystic renal neoplasm (7.5%), angiomyolipoma (5%), benign renal tissue (5%), and papillary adenoma (2.5%). No renal malignancy recurrences were observed during the study period (median follow-up: 67.2 months). Fourteen complications occurred among 11 patients (30.6% overall) during the first 6mo post-transplant. Mean eGFR (± standard error) at 36 months post-transplant was 51.9 ± 4.2 ml/min/1.73 m 2 ( N  = 23). Three death-censored graft losses and four deaths with a functioning graft and were observed., Conclusion: PN of renal grafts with suspicious looking masses or cysts is a safe option to optimize organ usage and decrease the kidney non-use rate, with no observed recurrence of malignancy or increased risk of complications., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (© 2024 Tabbara, Riella, Gonzalez, Gaynor, Guerra, Alvarez and Ciancio.)

Background: Various perinatal morbidities may adversely affect postnatal nephrogenesis in preterm infants. Kidney ultrasonographic findings following acute kidney injury (AKI) have not been well described in preterm infants. Herein, we describe three cases of extremely preterm infants who showed abnormal kidney ultrasonographic findings resembling dysplasia of the kidneys following AKI. Case-diagnosis/treatment: Their median gestational age and birth weight were 25+6 (range 23+3–26+6) weeks and 620 (480–840) g, respectively. All infants suffered severe AKI during their third to seventh week of life. Their kidney function recovered with conventional management. Kidney ultrasonographies performed after AKI revealed increased kidney echogenicity, loss of corticomedullary differentiation, and multiple cortical cysts, which were similar to cystic dysplasia of the kidneys and were absent in previous kidney imaging. Three infants eventually developed at least one of the long-term kidney sequelae following AKI, including proteinuria, hypertension, and elevated levels of serum creatinine or cystatin C as determined during the last follow-up at the corrected age of 9–18 months. Conclusions: Based on these cases, we can infer that AKI occurring during the early postnatal period may result in dysplasia of the kidneys with cortical cysts in extremely preterm infants, which may lead to chronic kidney disease in their later life. It is useful to follow up not only laboratory parameters but also kidney ultrasonographic findings in extremely preterm infants who suffered AKI during their early postnatal periods. [ABSTRACT FROM AUTHOR]

The article informs about an infant with hyperechoic cystic kidneys and congenital diaphragmatic hernia. Topics include small hyperechoic kidneys with abnormal architecture are often associated with cystic kidney dysplasia; and the identification of non-kidney abnormalities are essential clues in the evaluation of a neonate.

Objective: In this study we evaluated the results of 3D laparoscopic treatment method by symptomatic simple kidney cysts. Material and Method: A total of 23 patients undergoing 3D laparoscopic cyst decortication due to symptomatic simple kidney cysts between August 2016 and October 2018 were evaluated. Evaluation criteria were sex, age, symptom, localisation and size of the cyst, duration of operation hospital stay and complications. Results: Mean age of the patients was 57.3 ± 11.8 (27-73) years, 7 (30.4%) of the patients were female and 16 (%69.6) were male. The most common symptom was pain. Mean cyst diameter was 8.1 ± 2.5 (53-126 mm) cm. In assistance of 3D imaging, 16 patients received treatment under transperitoneal and 7 patients under retroperitoneal approach. Localisation of the cysts were as 17 at left and 6 at the right side. Mean duration of hospital stay was 2.2 ± 0.4 (2-3) days and mean operation time was 29.8 ± 5.6 (19-42) minutes. Whole cysts were evaluated as Bosniak type1. Histopathologic evaluation revealed simple kidney cysts with no sign of malignancy. No radiological and symptomatic recurrence was observed in any of the cases. Conclusion: Laparoscopic cyst decortication in assistance with 3D imaging in the treatment of symptomatic simple kidney cysts is safe, effective and has a low incidence of recurrence and morbidity. [ABSTRACT FROM AUTHOR]

The chronic kidney disease (CKD) and end-stage renal disease are the leading causes of kidney (renal) failure which may be fatal. Thus, it is important to diagnose the kidney diseases at an earlier stage before it cause fatality. This paper proposes an algorithm for automatic kidney abnormalities detection and classification at an early stage. Kidney abnormalities detection involves two stages: feature extraction and detection. The input images used in this work are kidney ultrasound (US) images which are classified into three categories such as normal kidney, kidney with cyst and kidney with stone. The pre-trained convolutional neural networks (CNN) is used to extract features from the kidney US images then, the extracted features from CNN are fed into the support vector machine (SVM) classifier for classifying the kidney abnormalities. The training and testing phase of CNN requires large number of labelled images. Due to unavailability of larger datasets in the kidney US images, off-the-shelf CNN features are used which perform well for smaller datasets. Performance evaluation is done for classification and 91.8% of the accuracy is obtained. Further, the sensitivity and specificity achieved for the SVM classifier in detecting normal kidney images is 93.75% and 92.5%, respectively. [ABSTRACT FROM AUTHOR]

The article presents a study on genetic approaches for the rapid identification of kidney cyst mutations in zebrafish, with information on the process of whole exome sequencing to identify genetic mutations. Topics include the whole exome sequencing (WES) method for the isolation of genetic code; research on the causality of genetic disorders in humans; and genome sequencing for the identification of mutations.

This study was designed to evaluate the safety and efficacy of suprapubic-assisted umbilical laparoendoscopic mini-dual-site surgery (SAU-LEMDS) with satisfied cosmetic outcome in minimal size of surgical incision for the treatment of simple kidney cyst at large size. Twenty-six consecutive patients (16 male and 10 female), aged 48.5 ± 4.1 years (range: 18 to 70 years), were enrolled in this study. All cases had simple kidney cysts including 18 cases on the left side and 8 cases on the right, with a mean cyst maximum diameter of 7.5 ± 0.8 cm. Under general anesthesia, the patients were placed in flank position with affected side elevated by 70°. Two trocars (5.5 mm in diameter) were inserted via the umbilical port. The third trocar was inserted into abdominal cavity above the pubic hairline for the placement of a 5-mm 30° laparoscope. The surgery procedures were successfully performed in the same manner as standard laparoscope-assisted kidney cyst decortication in all cases. The specimens were obtained through either of two umbilical ports without additional enlarge incisions. The mean operation time was 30 ± 8.2 min and the mean blood loss was 10.3 ± 2.1 ml. The duration of hospitalization was 4.2 ± 0.9 days, and the mean follow-up was two months (range: 1 to 3 months). Postoperatively, surgical wounds were small and healed well and cosmetic outcomes were satisfactory. No recurrent kidney cysts were found during follow up. SAU-LEMDS appears to be a feasible, safe and effective surgical option for simple kidney cyst, which not only leads to better cosmetic effects, but also decreases the complexity of umbilical laparoendoscopic single site surgery (U-LESS). [ABSTRACT FROM AUTHOR]

Abstract: Ciliary defects lead to various diseases, such as primary ciliary dyskinesia (PCD) and polycystic kidney disease (PKD). We isolated a medaka mutant mii, which exhibits defects in the left–right (LR) polarity of organs, and found that mii encodes dynein axonemal intermediate chain 2a (dnai2a). Ortholog mutations were recently reported to cause PCD in humans. mii mutant embryos exhibited loss of nodal flow in Kupffer''s Vesicle (KV), which is equivalent to the mammalian node, and abnormal expression of the left-specific gene. KV cilia in the mii mutant were defective in their outer dynein arms (ODAs), indicating that Dnai2a is required for ODA formation in KV cilia. While the mii mutant retained motility of the renal cilia and failed to show PKD, the loss of dnai2a and another dnai2 ortholog dnai2b led to PKD. These findings demonstrate that Dnai2 proteins control LR polarity and kidney formation through regulation of ciliary motility. [Copyright &y& Elsevier]

Nephronophthisis (NPHP) is the most frequent genetic cause of end-stage renal failure in the first three decades of life. It is characterized primarily by renal cysts with extrarenal involvements of the eye and brain. Ten recessive genes responsible for NPHP have been identified by positional cloning. This discovery supported a unifying theory of renal cystic disease, which states that all proteins mutated in cystic kidney diseases of human, mice, or zebrafish are expressed in primary cilia of renal epithelial cells. Mutations in nephrocystin-3 (NPHP3) are the cause of human nephronophthisis type 3 and polycystic kidney disease (pcy) mouse mutants. To study the functional role of NPHP3 in normal embryonic development and in the pathogenesis of cystic kidney disease, we characterized the zebrafish ortholog nphp3 by morpholino oligo (MO)-mediated knockdown. When nphp3 function was suppressed by either of the two MOs blocking the translation of the protein or the splicing of mRNA, zebrafish embryos displayed hydrocephalus and pronephric cysts. Knockdown of nphp3 also led to situs inversus phenotypes due to defective cilia at Kupffer's vesicle. We showed that nphp3 genetically interacts with nphp2/inversin and human NPHP3 localizes to primary cilia in Madin-Darby canine kidney cells. Like nphp2/inversin, nphp3 knockdown affected morphogenic cell movement during gastrulation, suggesting nphp3 is essential to regulate convergent extension. Thus nphp3, cooperating with nphp2/inversin, plays an essential role related to ciliary function, and the knockdown provides an animal model that may be used for studies of the pathogenesis and therapy for this disease. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 76-year-old man who experienced an increase in serum creatinine level and is diagnosed with having a renal cell carcinoma (RCC). It mentions that the detection of RCC was made through prebiopsy imaging and affirms that a renal computed tomography (CT) was performed. It relates that kidney cysts are more common in the general population and along with old age.

arl13b was initially cloned as the novel cystic kidney gene scorpion (sco) in zebrafish and was shown to be required for cilia formation in the kidney duct. In mouse, a null mutant of Arl13b shows abnormal ultrastructure of the cilium and defective sonic hedgehog (Shh) signaling. Importantly, a recent study linked mutations in ARL13B to a classical form of Joubert syndrome (JS), an autosomal recessive disorder characterized by a distinctive cerebellar malformation. In this study, we analyzed the zebrafish arl13b (sco) mutant and gene products in detail. We first demonstrate that Arl13b is a protein that is highly enriched in the cilium and is required for cilia formation in multiple organs in zebrafish, and that knockdown of arl13b leads to multiple cilia-associated phenotypes. We additionally show that multiple regions of Arl13b are required for its localization to the cilium. By means of rescuing experiments with a series of deletion and point mutants, we further demonstrate that the ciliary localization is crucial for the in vivo function of Arl13b. Together, these results strongly support the hypothesis that JS-related disease (JSRD) is a ciliopathy, or a disease caused by ciliary defects, and that Arl13b functions mainly through the cilium. [ABSTRACT FROM AUTHOR]

Objective: Type-1 kidney cysts (simple kidney cysts) are asymptomatic, solitary, and unilateral structures that are usually located in the renal cortex. These cysts are positioned around the kidney, causing pain in the patient, and cysts close to the vascular pole press on the vessels, causing blood pressure to increase and bleeding. Ultrasound and computed tomography(CT) criteria of Type-1 kidney cyst according to Bosniak classification include round/oval shape, smooth walls, absence of septa. If the diameter of the cyst is 7-8 cm on CT and the patient is symptomatic, surgery is decided. In this study, we aimed to determine whether the 3D volume of kidney cysts, which are frequently seen in the clinic, can be effective in making the diagnostic criteria and surgical decision. Methods: Diagnostic CT images of patients who applied to Alanya Training and Research Hospital, Urology Department between June 2018 and January 2022 were accessed from the hospital's PACS system. For volume measurements and 3D modeling, a software program called ITK-SNAP, which converts 2D images in MRI, CT, and ultrasound into 3D medical image volumes, was used. In 18 female and 20 male patients, 38 kidneys with Type 1 kidney cysts and 38 kidneys without cysts were considered as the control group. It was evaluated how much the cysts shrunk the kidney tissue, the volume difference between the kidney on the healthy side and the kidney on the cyst side, whether the healthy kidney volumes and kidney cyst volumes changed statistically in males and females patient groups. Results: The mean volumes of 76 kidneys (40 males-36 females) included in the study were calculated as 148.38±38.4 cm3 in the healthy group and 121.13±32.7 cm3 in the patient group (p<0.05). The mean volume of kidney cysts was 83.67± 12.28 cm3. The kidney volumes of the patients were statistically different according to gender. It was observed that the mean volume of kidney cysts did not differ according to gender. The ratio of the volume of kidney cysts to the diseased kidney was 1.04±0.5. Conclusion: In our study, 3D modeling of kidney and kidney cyst tissue, which can be visualized in 2D with contrast-enhanced CT, was made clearer. We think that our findings will create a more realistic image and will help clinicians to determine the morphology and exact location of the cyst before the surgical operation. [ABSTRACT FROM AUTHOR]

In patients with von Hippel–Lindau (VHL) disease, renal cysts and clear cell renal cell carcinoma (ccRCC) arise from renal tubular epithelial cells containing biallelic inactivation of the VHL tumour suppressor gene. However, it is presumed that formation of renal cysts and their conversion to ccRCC involve additional genetic changes at other loci. Here, we show that cystic lesions in the kidneys of patients with VHL disease also demonstrate activation of the phosphatidylinositol-3-kinase (PI3K) pathway. Strikingly, combined conditional inactivation of Vhlh and the Pten tumour suppressor gene, which normally antagonises PI3K signalling, in the mouse kidney, elicits cyst formation after short latency, whereas inactivation of either tumour suppressor gene alone failed to produce such a phenotype. Interestingly, cells lining these cysts frequently lack a primary cilium, a microtubule-based cellular antenna important for suppression of uncontrolled kidney epithelial cell proliferation and cyst formation. Our results support a model in which the PTEN tumour suppressor protein cooperates with pVHL to suppress cyst development in the kidney. [ABSTRACT FROM AUTHOR]

Patients with von Hippel–Lindau (VHL) disease often develop VHL−/− kidney cysts, which possibly progress into clear-cell renal carcinomas (ccRCCs). Recent data link the VHL gene product to formation of the primary cilium, an organelle that extends apically into the renal lumen. Exactly how VHL induces ciliogenesis or function is unknown. Here, we demonstrate that ciliary assembly and mechanotransduction is rapidly restored in VHL−/− ccRCC cells upon ectopic reconstitution of wild-type – but not variant alleles of – VHL. These data support and expand recent studies implicating a role for VHL in the initiation of ciliogenesis. Furthermore, reduction of cellular levels of VHL in this cell system was associated with fewer ciliated cells, suggesting a role for VHL in ciliary maintenance.European Journal of Human Genetics (2008) 16, 73–78; doi:10.1038/sj.ejhg.5201930; published online 3 October 2007 [ABSTRACT FROM AUTHOR]

Cilia, as motile and sensory organelles, have been implicated in normal development, as well as diseases including cystic kidney disease, hydrocephalus and situs inversus. In kidney epithelia, cilia are proposed to be non-motile sensory organelles, while in the mouse node, two cilia populations, motile and non-motile have been proposed to regulate situs. We show that cilia in the zebrafish larval kidney, the spinal cord and Kupffer's vesicle are motile, suggesting that fluid flow is a common feature of each of these organs. Disruption of cilia structure or motility resulted in pronephric cyst formation, hydrocephalus and left-right asymmetry defects. The data show that loss of fluid flow leads to fluid accumulation, which can account for organ distension pathologies in the kidney and brain. In Kupffer's vesicle, loss of flow is associated with loss of left-right patterning, indicating that the 'nodal flow' mechanism of generating situs is conserved in non-mammalian vertebrates. [ABSTRACT FROM AUTHOR]

DNA-dependent protein kinase (DNA-PK) is a serine/threonine protein involved in DNA damage response (DDR) signaling that may mediate kidney cyst growth in autosomal dominant polycystic kidney disease (ADPKD) due to its pleiotropic effects on proliferation and survival. To test this hypothesis, the expression of DNA-PK in human ADPKD and the in vitro effects of DNA-PK inhibition in a three-dimensional model of Madin-Darby Canine Kidney (MDCK) cyst growth and human ADPKD cells were assessed. In human ADPKD, the mRNA expression for all three subunits of the DNA-PK complex was increased, and using immunohistochemistry, the catalytic subunit (DNA-PKcs) was detected in the cyst lining epithelia of human ADPKD, in a focal manner. In vitro, NU7441 (a DNA-PK kinase inhibitor) reduced MDCK cyst growth by up to 52% after long-term treatment over 6–12 days. Although human ADPKD cell lines (WT9-7/WT9-12) did not exhibit synthetic lethality in response to DNA-PK kinase inhibition compared to normal human kidney cells (HK-2), the combination of low-dose NU7441 enhanced the anti-proliferative effects of sirolimus in WT9-7 and WT9-12 cells by 17 ± 10% and 11 ± 7%, respectively. In conclusion, these preliminary data suggest that DNA-PK mediates kidney cyst growth in vivo without a synthetically lethal interaction, conferring cell-specificity in human ADPKD cells. NU7441 enhanced the anti-proliferative effects of rapamycin complex 1 inhibitors, but the effect was modest. [ABSTRACT FROM AUTHOR]

Rationale & Objective: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare monogenic disorder caused by SLC34A3 pathogenic variants. HHRH is characterized by kidney phosphate wasting, hypophosphatemia, hypercalciuria, an elevated 1,25-dihydroxyvitamin D level, nephrocalcinosis, and urinary stone disease. Previously, we reported a 100% prevalence of kidney cysts in the related CYP24A1 deficiency. Thus, in the current study, we characterized cysts' presence in HHRH, another monogenic cause of hypercalciuria, nephrocalcinosis, and urinary stone disease., Study Design: Case series., Setting & Participants: Medical records from the Mayo Clinic and the Rare Kidney Stone Consortium monogenic stone disease database were queried for patients with a genetically confirmed HHRH diagnosis. The number, sizes, and locations of kidney cysts in each patient were recorded., Results: Twelve patients with SLC34A3 pathogenic variants were identified (7 monoallelic, 5 biallelic). Of these, 5 (42%) were males, and the median (Q1, Q3) ages were 16 years (13, 35 years) at clinical presentation and 42 years (20, 57 years) at genetic confirmation. Kidney cysts were present in 9 of 12 (75%) patients, and the median (Q1, Q3) age at first cyst detection was 41 years (13, 50 years). The median number of cysts per patient was 2.0 (0.5, 3.5). Fifty percent of adult patients had a cyst number that exceeded the 97.5th percentile of an age- and sex-matched control population. All children had at least 2 or more total cysts. None had a family history of cystic kidney disease., Limitations: Retrospective study, possible selection bias, single-center experience., Conclusions: A strong association between HHRH and kidney cysts was observed. Similarities in the biochemical profiles of HHRH and CYP24A1 deficiency suggest elevated active vitamin D and hypercalciuria may be potential cystogenic factors. Further studies are needed to understand how genetic changes in SLC34A3 favor cyst formation., (© 2022 The Authors.)