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Objective: We aimed to evaluate the clinical significance of the “unclassified” blood pressure phenotypes on left ventricular hypertrophy in children. Materials and Methods: All children evaluated with ambulatory blood pressure monitoring in the pediatric nephrology department between October 2018 and January 2021 were included in the study. Prehypertension, normotensive, white coat hypertension, masked hypertension, ambulatory hypertension groups and 2 other groups including increased blood pressure load, normal ambulatory blood pressure measurements, but normal (unclassified group 1) or high (unclassified group 2) office blood pressure measurements were defined according to the American Heart Association 2014 statement. Left ventricular mass index, left ventricular mass index/95 percentile values, and left ventricular hypertrophy ratios were compared between the groups separately to establish the influence of the unclassified cases. Results: A total of 497 children were included. There were 52 cases in normotensive, 47 cases in unclassified group 1, 50 cases in masked hypertension, 79 cases in white coat hypertension, 104 cases in unclassified group 2, and 165 cases in the ambulatory hypertension group. Left ventricular mass index/95 percentile and left ventricular hypertrophy in masked hypertension were significantly higher than normotensive but similar between normotensive and unclassified group 1 groups. Left ventricular hypertrophy was significantly higher in the ambulatory hypertension group compared to white coat hypertension, and similar between white coat hypertension and unclassified group 2 groups. Conclusion: Independent of age, we have found that interpretation of blood pressure load not only has a limited predictable effect on left ventricular hypertrophy but also causes a large group of patients to be unclassified. [ABSTRACT FROM AUTHOR]

Background: Ventricular repolarization (VR) increases the risk of sudden cardiac death due to ventricular arrhythmia. We aimed to evaluate the blood pressure (BP) parameters affecting VR in obese children. Methods: Obese (BMI ≥ 95p) and healthy children ≥ 120 cm between January 2017 and June 2019 were included. Demographic and laboratory data, peripheral and central BPs evaluated by a device capable of ambulatory blood pressure monitoring (ABPM), and pulse wave analysis were assessed. Electrocardiographic ventricular repolarization indices, left ventricular mass index (LVMI), and relative wall thickness (RWT) were calculated. Results: A total of 52 obese and 41 control patients were included. Uric acid, triglyceride, total cholesterol, LDL, and ALT values, systolic and diastolic office BPs, 24-h, daytime and nighttime systolic and mean arterial BPs, daytime diastolic BP SDS levels, daytime and nighttime systolic loads, daytime diastolic load, 24-h, daytime and nighttime central systolic and diastolic BPs, and pulse wave velocity values were significantly higher, whereas 24-h, daytime and nighttime AIx@75 were similar between the groups. fT4 levels of obese cases were significantly lower. QTcd and Tp-ed were higher in obese patients. Although RWT was higher in obese cases, LVMI values and cardiac geometry classifications were similar. The independent factors affecting VR in obese cases were younger age and higher diastolic load at night (B = − 2.83, p = 0.010; B = 0.257, p = 0.007, respectively). Conclusion: Obese patients have higher peripheral and central BP, arterial stiffness, and higher VR indices that develop before an increase in LVMI. It would be useful to prevent obesity from an early age and follow up nighttime diastolic load to control VR associated sudden cardiac death in obese children. [ABSTRACT FROM AUTHOR]

Objective: We aimed to evaluate the approaches of pediatric nephrologists in our country to the management of childhood hypertension. Methods: The pediatric nephrologists in our country were invited to fill out an online questionnaire including 24 questions. The answers were compared between those working in the field for ≤10 years (Group 1, n =74) and >10 years (Group 2, n = 62). Results: Of 136 participants (M/F = 101/35), 52% were following a single guideline [31% Fourth Report of 2004, 17% European Society of Hypertension in 2016, and 52% American Academy of Pediatrics in 2017], which is more common in Group 1 (P = .035). The most commonly used guideline was American Academy of Pediatrics of 2017 and Group 2 used Fourth Report of 2004 more commonly (P = .042). The most common choice to diagnose hypertension was office +home +ambulatory blood pressure monitoring (59%). The frequency of screening for end-organ damage at first evaluation was 96%. The time to wait for the effect of lifestyle modifications was 3 months in 52%. The first choice medication was angiotensin-converting enzyme inhibitors (49%) or calcium-channel blockers (48%) in non-obese and angiotensin-converting enzyme inhibitors (74%) in obese children. Calcium-channel blockers were more commonly prescribed as the first choice in non-obese children in Group 1 (P = .035). The most accessible emergency drug was esmolol. Conclusion: Despite following recent guidelines, the time spent in the proficiency would change the practices. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to present the demographic, clinical, and laboratory features of children clinically diagnosed with familial Mediterranean fever (FMF) and to predict more severe mutations by evaluating those findings. Methods: We enrolled cases diagnosed with FMF with a defined variation in at least one allele. The medical charts of the patients were reviewed retrospectively. The patients were grouped as homozygous, compound heterozygous, and simple heterozygous cases, with and without M694V mutation. We compared the data between the subgroups using logistic regression analysis and determined the risk factors for being homozygous or compound heterozygous for M694V. Results: A total of 263 (M/F =109/154) cases were included. The mean age at the onset of symptoms, follow-up duration, and time to diagnosis were 6.75 ± 3.9 (0.25-17) years, 51.78 ± 39.31 (6-166) months, and 9.23 ± 14.44 (1-132) months, respectively. The rates of parental consanguinity, positive family history for FMF, and FMF in a first-degree relative were 15%, 42%, and 31.4% respectively. The most common symptom was abdominal pain (85%). There was no difference between the growth parameters of the cases during the initial and final control periods. The most frequent alleles were M694V, E148Q, and V726A. The most common accompanying disease was IgA vasculitis (20%). Almost 90% of the cases fulfilled all the defined criteria. The rate of patients having a first-degree relative with FMF was higher, Hb values were lower, and the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) values were higher during the attack period; the ESR and CRP values were higher in the attack-free period; and Pras disease severity scores were higher in homozygous or compound heterozygous cases carrying M694V. The presence of FMF in a first-degree relative increases the probability of being homozygous and compound heterozygous for M694V by a factor of 2.39; and each 1 unit increase in the Pras score increases this probability by a factor of 1.43. The threshold Pras score for this possibility is 5.5 (AUC = 0.651; 95% CI, 0.545-0.757; P = .006; sensitivity, 65%; specificity, 55%). Conclusion: M694V was the most common and severe mutation in our cohort. The presence of a first-degree relative with FMF and Pras scores >5.5 may predict a homozygous or compound heterozygous mutation for M694V. [ABSTRACT FROM AUTHOR]

In the article, the authors present a case of a 14-year-old male who was presented to a clinic due to severe pain in his right loin with acute fatigue, tachycardia, a large subcapsular haematoma in his right kidney, and low haemoglobin levels to discuss recurrent perirenal hematomas and brachial plexopathy in patients with familial Mediterranean fever-linked polyarteritis nodosa (PAN). Also cited are the recommended treatments like biological agents such as rituximab.

Thje article discusses a biopsy, bleeding has occured in three ways: urethral obstruction due to macroscopic or gross hematuria caused by bleeding in the collecting system. Topics include biopsy complications have finally ruled out with normal kidney US and renovascular Doppler US; and lobar pneumonia with pleural effusion has caused abdominal pain in patients.

Background/aim: In children with autosomal dominant polycystic kidney disease (ADPKD), clinical manifestations range from severe neonatal presentation to renal cysts found by chance. We aimed to evaluate demographic, clinical, laboratory findings, and genetic analysis of children with ADPKD. Materials and methods: We evaluated children diagnosed with ADPKD between January 2006 and January 2019. The diagnosis was established by family history, ultrasound findings, and/or genetic analysis. The demographic, clinical, and laboratory findings were evaluated retrospectively. Patients <10 years and ≥10 years at the time of diagnosis were divided into 2 groups and parameters were compared between the groups. Results: There were 41 children (M/F: 18/23) diagnosed with ADPKD. The mean age at diagnosis was 7.2 ± 5.1 (0.6-16.9) years and the follow-up duration was 59.34 ± 40.56 (8-198) months. Five patients (12%) were diagnosed as very early onset ADPKD. All patients had a positive family history. Genetic analysis was performed in 29 patients (PKD1 mutations in 21, PKD2 mutations in 1, no mutation in 3). Cysts were bilateral in 35 (85%) of the patients. Only one patient had hepatic cysts. No valvular defect was defined in 12 patients detected. Only 1 patient had hypertension. None of them had chronic kidney disease. No difference could be demonstrated in sex, laterality of the cysts, maximum cyst diameter, cyst or kidney enlargement, follow-up duration, or GFR at last visit between Groups 1 and 2. Conclusion: The majority of children with ADPKD had preserved renal functions and slight cyst enlargement during their follow-up. However, they may have different renal problems deserving closed follow-up. [ABSTRACT FROM AUTHOR]

Patients with solitary kidneys (SKs) are at risk of hypertension (HT) and associated end‐organ damage. The authors aimed to evaluate whether children with congenital SKs (CSKs) have higher office, ambulatory, or central blood pressure (BP), increased arterial stiffness or left ventricular mass index, or any risk for arrhythmia. With this purpose, patients with CSK and healthy controls being followed up between January 2018 and June 2019 were enrolled in the study. Demographic, biochemical, and office blood pressure (BP) data were recorded. Then, ambulatory blood pressure monitoring (ABPM) and measurements of central BP (cBP), pulse wave velocity (PWV), and augmentation index (AIx@75) were obtained. Ventricular repolarization parameters were acquired by 12‐lead electrocardiography. Left ventricular mass index (LVMI) and abdominal aortic stiffness parameters including strain, pressure strain elastic modulus (Ep), and normalized Ep (Ep*) were calculated with echocardiographic measurements. Finally, 36 children with CSK and 36 healthy controls were included. Serum creatinine, uric acid, total cholesterol levels, ABPM parameters, cBP levels, and PWV values were significantly higher, and eGFR levels were significantly lower in the CSK group. VR parameters, abdominal aortic stiffness indices, and LVMI were similar between the groups. CSK increased the risk of HT in ABPM (HTABPM) by 6 times. PWV was significantly correlated with Ep and Ep* in cases with CSK. Determination of cBP and PWV along with 24‐hour ABPM would be a useful tool in children with CSK. [ABSTRACT FROM AUTHOR]

Objectives: This study aims to evaluate the frequency of skin, gastrointestinal, joint, and renal involvement in children with Henoch-Schonlein purpura (HSP) and investigate the risk factors for organ/system involvement. Patients and methods: The data of 186 patients (97 boys, 89 girls; mean age 7.4±2.8 years; range 1.5 to 16.5 years) who were followed-up with the diagnosis of HSP in our clinic between October 2011 and December 2013 were evaluated retrospectively. Results: Logistic regression analysis revealed that the risk of gastrointestinal system (GIS) involvement was significantly higher in patients with skin lesions in the upper extremities (p=0.002, odds ratio [OR]=3.2). The risk of joint involvement was significantly higher in girls (p=0.024, OR=2.18), in patients with soft tissue swelling (p=0.005, OR=2.63), and with low mean platelet volume (MPV) levels (p=0.008, OR=4.07). The risk of renal involvement was significantly higher in girls (p=0.047, OR=2.7), in patients >10 years (p=0.001, OR=1.4), and in patients with elevated C-reactive protein (CRP) levels (p=0.007, OR=6.57). Conclusion: Having skin lesions in the upper extremities is a risk factor for GIS involvement. Female sex, soft tissue swelling, and low MPV levels are risk factors for joint involvement. Female sex, >10 years of age, and high CRP levels are risk factors for renal involvement. Renal involvement in HSP is independent of GIS or joint involvement and very close follow-up is required in the acute period particularly in girls >10 years w ith high CRP levels. [ABSTRACT FROM AUTHOR]

Objective: We aimed to evaluate the ototoxicity of cyclosporine A (CsA) in children with nephrotic syndrome (NS). Design: Data of paediatric patients with NS followed in paediatric nephrology department were evaluated retrospectively, and hearing functions were evaluated by pure tone audiometry (PTA) and transient evoked otoacoustic emissions (TEOAEs). Age, gender, type of NS, duration and cumulative doses of immunosuppressives were noted. Study sample: The patients who had received CsA (n: 16) and immunosuppressives other than CsA (n: 13) for at least 6 months formed two patient groups and healthy cases formed a control group (n: 20). Children with known previous hearing defect, inner ear trauma or surgery, recurrent otitis media and those using hearing aid were excluded. Results: Gender, age at first clinical presentation, laboratory tests and number of relapses were similar between the groups. No hearing loss was defined in PTA at frequencies of 250, 500, 1000, 2000, 4000 and 8000 Hz. The results of TEOAEs were similar between the groups and compatible with normal hearing. Conclusions: CsA is not responsible for permanent sensorineural hearing loss in children with NS, and there is no sufficient evidence to consider routine hearing assessment in children with NS treated with CsA. [ABSTRACT FROM PUBLISHER]

Peritonitis associated with gram-negative bacteria presents difficulties in the follow-up of patients with chronic peritoneal dialysis. Especially in perionitis related to Pseudomonas spp., treatment becomes difficult and may lead to catheter removal. However, some strains may differ. Here, we present a 14-year-old girl with P. putida peritonitis while on automated peritoneal dialysis due to familial Mediterranean fever (FMF)-related amyloidosis and end-stage renal failure. The patient was admitted with abdominal pain, fever, vomiting and cloudy peritoneal fluid starting one day before the admission. She was diagnosed with peritonitis when additional large amounts of leukocytes with 100% polymorphic nucleated cells were found in the peritoneal fluid. Intraperitoneal cefepime treatment was instituted empirically and systemic cefepime was added for up to three days when catheter dysfunction developed. The peritoneal fluid culture yielded cefepime sensitive P. putida and the treatment was stopped at the end of two weeks. No peritonitis recurrence or technical survival problem was found in the follow-up period. It was thought that infection with P. putida, which is thought to be an opportunistic pathogen with low virulence and high response to antibiotic therapy seen in immunosuppressive patients, may be related to canakinumab, which was being used by our case. The case was presented with the aim of drawing attention to the fact that although a pseudomonal peritonitis, two weeks of cefepime monotherapy may be sufficient for P. putida peritonitis. [ABSTRACT FROM AUTHOR]

The article focuses on the treatment of mainzer–saldino syndrome. Topics discussed include analysis of weather hand radiograph indicate a special diagnosis in a child with chronic kidney disease; symptoms of retinitis pigmentosa and proximal femoral abnormalities in the paitent; and association of cone-shaped epiphyses with many diseases.

The article presents a case study of a 10-year-old Syrian girl was admitted to the emergency room with fever and edema in legs and eyelids. Topics include the patient has diagnosed with SLEwith 26 points according to the 2019 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Systemic Lupus Erythematosus; and the liver has palpable at 2 cm below the costae and there was no splenomegaly.

Henoch-Schönlein purpura (HSP) associated gastrointestinal symptoms vary from abdominal pain to obstruction. Oral/intravenous steroid is the treatment of choice. In case of failure, pulse methylprednisolone (PMP), intravenous immunoglobulin, plasmapheresis may be needed. A six-year-old boy was diagnosed with HSP owing to palpable purpura, arthritis, painful soft tissue edema in lumbar and frontal areas, ecchymosis in scrotum. During the follow-up, he had severe abdominal pain and bloody stool, which did not respond to steroid therapy (2 mg/kg). PMP was instituted. Epididymitis developed after the first dose, and he had bloody stool while receiving the third dose, but remission in complaints was observed thereafter. [ABSTRACT FROM AUTHOR]

A quiz is presented on diagnosis of kidney diseases based on radiological findings; and supportive diagnostic tests for the same.

Objective: To compare pulse wave analysis (PWA) of obese children with and without metabolic syndrome (MS) with healthy, non-obese children and to evaluate the association between PWA findings and additional risk factors present in children with MS and obesity. Methods: From the obese patients examined between June 2019 and June 2021, 41 patients with MS, 36 obese patients without MS, and 34 healthy non-obese children of similar age and gender were evaluated retrospectively. Anthropometric measurements, biochemical evaluation, 24-hour ambulatory blood pressure (BP) measurement (ABPM), left ventricular mass index (LVMI) and PWA measurements were compared. Results: When the three groups were compared, weight standard deviation score (SDS), height SDS and body mass index SDS were all significantly higher in the MS group (p<0.05). The following measurements were significantly higher in both MS and non-MS obese patients compared to the control group: from ABPM measures, the systolic and mean arterial pressure BP SDSs load; from PWA, the night central systolic BP, 24-hour, day and night pulse pressure values and 24-hour, day and night pulse wave velocity (PWV) rates; and from cardiac evaluations, the LVMI and relative wall thickness measurements (all p<0.05). Furthermore, the 24-hour and daytime central systolic (cSBP) and diastolic BP (cDBP) values were significantly different between the three groups, being the highest in the MS group (p<0.05). Conclusion: Obesity causes higher office, ambulatory and central BP, PWV and LVMI. However our results suggest that additional risk factors associated with MS do not contribute to these parameters, except for 24-hour and daytime cSBP and cDBP values. [ABSTRACT FROM AUTHOR]

Background: This study aimed to determine the dietary acid load of children with chronic kidney disease (CKD) and to evaluate the relationship between dietary acid load, nutritional status, and health-related quality of life (HRQOL). Method: A total of 67 children aged 3–18 years with a diagnosis of CKD stages II–V were included in the study. Anthropometric measurements (body weight, height, mid-upper arm circumference, waist, and neck circumference) and 3-day food consumption records were taken to evaluate the nutritional status. The net endogenous acid production (NEAP) score was calculated to determine the dietary acid load. "Pediatric Inventory of Quality of Life (PedsQL)" was used to assess the participants' HRQOL. Results: The mean NEAP was 59.2 ± 18.96 mEq/day. Stunted and malnourished children had significantly higher NEAP than those who were not (p < 0.05). There were no significant differences in terms of HRQOL scores according to NEAP groups. The multivariate logistic regression analysis showed that waist circumference (OR: 0.890, 95% CI: 0.794–0.997), serum albumin (OR: 0.252, 95% CI: 0.068–0.929), and glomerular filtration rate (GFR) (OR: 0.985, 95% CI: 0.970–1.000) were negatively associated with high NEAP. Conclusion: This study shows that a diet shifted in an acidic direction in children with CKD and a higher dietary acid load are associated with lower serum albumin, GFR, and waist circumference, but not HRQOL. These results suggest that dietary acid load might affect nutritional status and CKD progression in children with CKD. Future studies with larger samples are needed to confirm these results and to understand underlying mechanisms. A higher resolution version of the Graphical abstract is available as Supplementary information [ABSTRACT FROM AUTHOR]

Aim: The presence and clinical importance of vesicoureteric reflux in patients with a double collecting system are being questioned. Therefore, the role of voiding cystourethrography in the management of patients with ureterocele is unclear. This study aimed to evaluate patients with a ureterocele in terms of urinary tract infection (UTI) and vesicoureteral reflux (VUR). Material Methods: The cases who were admitted to the Pediatric Nephrology Clinic of Health Sciences University Tepecik Training and Research Hospital between 2012 and 2022 and were diagnosed with ureterocele were evaluated retrospectively. Demographic, clinical, and laboratory data were obtained from file records. Results: All patients diagnosed with ureterocele and voiding cystourethrography (VCUG) were evaluated. A total of 24 (female 13 (54.2%)) children were included. The reasons for admission were antenatal hydronephrosis in 13 (54.2%) patients, UTI in 9 (37.5%) patients, and incidentally diagnosed ureterocele in 2 (8.3%) patients. Urinary tract infection was observed in 20 patients at admission, recurrent UTI in 21 patients at follow-up, preoperative pyelonephritis in 12 patients. VUR was found in 11 patients, and severe VUR (≥stage 3) was found in 9 patients. Ten patients had ipsilateral hydronephrosis, and 14 patients had a double collecting system. The presence of VUR was found to be associated with female gender, UTI at admission, and recurrent UTI at follow-up (p < 0.05). However, there was no difference between groups with or without VUR in terms of ipsilateral hydronephrosis, scar formation, and the need for surgery (p > 0.05). Conclusions: We could not demonstrate any criteria to select patients to receive VCUG; on the other hand, VUR did not cause more kidney damage. Our study supports the need for more scientific data to determine management in patients with ureterocele. [ABSTRACT FROM AUTHOR]

The article presents questions and answers related to medicine, namely, the findings that are inconsistent with a diagnosis of Bartter syndrome, and the tests that should be conducted for the differential diagnosis.

A clinical quiz about the cause of chronic tubulointerstitial nephritis in pediatric patients is presented.

The article provides answers on the possible diagnosis and treatments of a 6-year-old female who was rushed to a clinic due to fever, vomiting and burning pain when urinating, including her diagnosis of acute-onset emphysematous pyelonephritis (EPN) and her differential diagnosis like abscess.

Polyuria in children may become a diagnostic challenge since it may be seen as presenting symptom of an underlying renal or systemic disease. An adolescent boy, who did not have any known illness, was presented with polyuria. The detailed history revealed the findings of learning difficulty, speech impairment, unsteady gait and an operation of polydactyly. He had consanguineous parents and a brother who had abruptly diagnosed with the end-stage renal disease at the age of 21. These clues pointed to genetic background. On physical examination, he had pectus excavatum, atypical facial appearance, dysarthria, hypotonia, rotatory nystagmus, impaired tandem walk, hyperpigmented retinal irregularities. Laboratory examinations showed Stage-4 chronic kidney disease accompanied by tubulopathy. Ultrasonography detected cystic lesions on the corticomedullary junction. Thus, the patient had diagnosed Juvenile-Nephronophthisis. During further examinations, Molar Tooth Sign was detected in cranial MRI imaging. All these clinical and radiological findings indicate the spectrum of Joubert-Syndrome-Related-Disorders (JSRD). Genetic analysis of the patient and his brother revealed homozygous NPHP1 deletion. Distinctly from literature, they both had hematological involvement in the form of persistent thrombocytopenia. Genetic heterogeneity and phenotypic variability of nephronophthisis are major challenges. Although NPHP1 deletions are mostly identified in isolated nephronophthisis, they have also been described in complex ciliopathy syndromes such as JSRD. This case is also specific due to haematological involvement additional to kidney, retina, skeleton, neurological. We think, this case may shed light on future genotype-phenotype studies. [ABSTRACT FROM AUTHOR]

aHUS is caused by the over‐activation and dysregulation of the alternative complement pathway. Data regarding outcomes of pediatric aHUS patients after kidney transplantation are still very scarce. Accordingly, the aim of this study was to describe the clinical findings and outcomes of pediatric aHUS patients after renal transplantation. This is a retrospective, multicenter study including 12 patients from the national registry system. Among the 12 patients, eight had received prophylactic eculizumab and none of those patients (except one) had experienced aHUS recurrence during a median follow‐up period of 58.5 (min‐max, 4‐94) months. Although eculizumab had been started on the day before transplantation in one of them, aHUS recurrence occurred during the transplantation procedure. Eculizumab had been stopped in only one patient who had no complement gene mutation after 35 months of therapy, and recurrence had not been observed during the 19 months of follow‐up. In three patients, maintenance doses had been spaced out without any recurrence. One additional patient with anti‐CFH antibody received only two doses of eculizumab for transplantation and had been followed for 46 months without aHUS recurrence. The remaining three patients had not received anti‐C5 therapy and none of those patients experienced aHUS recurrence during a median follow‐up period of 21 (min‐max, 9‐42) months. Prophylactic eculizumab is a safe and effective treatment for the prevention of aHUS recurrence. Eculizumab interval prolongation, discontinuation, and transplantation without eculizumab prophylaxis can be tried in selected patients with close follow‐up. [ABSTRACT FROM AUTHOR]

Introduction: Obesity has become a serious health problem with increasing frequency in children and adolescents. Besides metabolic problems, it can also cause bladder-bowel dysfunction (BBD). It is known that both obesity and BBD have negative effects on the quality of life. In this study, we aimed to investigate the effect of BBD on the quality of life in obese children and adolescents. Materials and Methods: Obese children and adolescents aged 5 to 17 years who were admitted to pediatric outpatient clinics between April 2019 and December 2019 were included in the study. The cases with normal weight, similar age and sex to the other groups, who came for respiratory tract infection and presented to the Pediatric Nephrology outpatient clinic with signs of bladderbowel dysfunction were included. The cases who scored 11 or above according to the Bladder Bowel Symptom Score (BBSS) were considered as BBD. Results: A total of 289 patients, 148 obese and 141 normal weight, with a mean age of 11.7±3.1 years were included in the study. In the obese group, the quality of life subscale and total scores were significantly lower than the control group with normal weight. In obese cases, the quality of life subscale and total scores were significantly lower in the group with BBSS≥11 (p<0.001). There was a statistically significant difference in the physical health total score and the total scale score in the obese patients with BBSS≥11. Conclusions: In this study, while the negative effects of both obesity and BBD on the quality of life were revealed, it was seen that BBD affects the quality of life even more negatively, and both of them are comorbid situations with each other. In addition, it was concluded that the quality of life is most affected when both MBD and obesity coexist. [ABSTRACT FROM AUTHOR]

The article presents questions and answers related to Acute kidney injury has defined as rising serum creatinine or decreased urine output.

Polyarteritis nodosa (PAN) is a necrotizing systemic vasculitis involving the wall of small and medium sized arteries. The histological aspect is defined by the presence of fibrinoid necrosis and an infiltrate rich in neutrophil polynuclears in the artery wall and rare granulomas. CECR1 (Cat Eye Syndrome Chromosome Region 1) gene mutation causing adenosine deaminase 2 (ADA2) deficiency is also associated with systemic inflammation, vasculopathy, and frequently PAN. Strokes, neurological involvement, and gastrointestinal involvement have poor prognosis in the cases with ADA2 deficiency particularly in early stage. In this article, we report a 17-year-old male patient diagnosed with PAN who had severe gastrointestinal system involvement that was resistant to intensive and conventional immunosuppressive treatment and showed a fatal course despite the emergency surgical intervention. After the patient was exitus, he was detected to have a heterozygous mutation (V276A) of familial Mediterranean fever (FMF) and also a homozygous ADA2 mutation. The aim of this article is to highlight that ADA2 deficiency may be present in treatment-resistant PAN cases who apply due to severe systemic involvement. In this case, accompanying FMF mutation was also observed. [ABSTRACT FROM AUTHOR]

The article presents a case of a 6-year-old girl who was presented to a pediatric nephrology outpatient facility due to growth retardation to discuss the diagnosis of Bartter syndrome and the tests required for her differential diagnosis. Also cited are the bases for her diagnosis like polyuria, polydipsia, hyponetremia, and metabolic alkalosis.

A clinical quiz about the cause of chronic tubulointerstitial nephritis in pediatric patients is presented.

The article presents questions on the possible diagnosis and treatments of a 6-year-old female who was rushed to a clinic due to fever, vomiting and burning pain when urinating.

Background: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disorder, almost always characterized by the triad of congenital cataract, cognitive and behavioral impairment and a proximal tubulopathy. Methods: Twenty-eight novel patients with suspected Lowe syndrome were studied. Results: All patients carried OCRL gene defects with mutational hot spots at CpG dinucleotides. Mutations previously unknown in Lowe syndrome were observed in ten of the 28 patients, and carriership was identified in 30.4 % of the mothers investigated. Mapping the exact breakpoints of a complete OCRL gene deletion revealed involvement of several flanking repeat elements. We noted a similar pattern of documented clinically relevant symptoms, and even though the patient cohort comprised relatively young patients, 32 % of these patients already showed advanced chronic kidney disease. Thrombocytopenia was seen in several patients, and hyperosmia and/or hyperacusis were reported recurrently. A p.Asp523Asn mutation in a Polish patient, associated with the typical cerebrorenal spectrum but with late cataract (10 year), was also evident in two milder affected Italian brothers with ocular involvement of similar progression. Conclusions: We have identified clinical features in 28 patients with suspected Lowe syndrome that had not been recognized in Lowe syndrome prior to our study. We also provide further evidence that OCRL mutations cause a phenotypic continuum with selective and/or time-dependent organ involvement. At least some of these mutants might exhibit a genotype-phenotype correlation. [ABSTRACT FROM AUTHOR]

Ramsay Hunt Syndrome (RHS) was first described by J.Ramsay Hunt in 1907. Ramsay Hunt Syndrome-also known as Herpes Zoster Oticus-consists of facial paralysis accompanied by the presence of erythematous vesicles on ear and/or oral mucosa and otalgia. This syndrome is most common in adults and older children and very rare in young children. Affected children display milder symptoms relative to adults. Following the primary infection, Varicella Zoster Virus (VZV) becomes latent in the cells of the sensory ganglia and a reactivation associated with supressed cell-mediated immunity may occur after a period of time, resulting in RHS. Although subfebrile fever and chickenpox-like rash can develop related to Varicella vaccine, the risk of RHS is extremely rare after immunization. It has been reported that the microorganism introduced into the body by means of live attenuated varicella vaccine becomes activated and causes varicella especially in immunocompromised patients. Following receipt of varicella vaccine, RHS has been also reported to occur rarely. We, herein, report the case of 13-montli-old female patient with infantile nephrotic syndrome who developed RHS after lier immunization with with varicella, and other live vaccines. [ABSTRACT FROM AUTHOR]

Objective: This study describes a single-center experience on percutaneously performed partial omentectomy procedure in pediatric peritoneal dialysis (PD) patients who showed early catheter dysfunction and required catheter replacement due to catheter flow obstruction. Materials and methods: We performed a retrospective review of clinical outcomes from pediatric PD patients who underwent percutaneous catheter replacement by pediatric nephrologists between November 1995 and December 2012. Partial omentectomy was performed in those patients in whom omental or adhesion trapping to the catheter tip was seen. Results: During the study period, catheter dysfunction that eventually required percutaneous catheter replacement occurred in 32 (23.7%) children. Of these, 9 patients were performed partial omentectomy. Mean age at initiation of PD and time of omentectomy was 97.48 ± 46.06 and 98.53 ± 45.55 months, respectively. Catheter dysfunction appeared after a mean 1.20 ± 1.0 months. The causes of catheter dysfunction were omental wrapping and malposition. No peritonitis occurred before omentectomy. Mean total operation time was 60 ± 8.83 min. No complications were encountered during the procedure. After omentectomy, mean catheter survival period was 5.92 ± 6.88 months. A total of five peritonitis episodes occurred. Three patients were transferred to hemodialysis. Six patients were on PD treatment without any problem at the end of the first year of their follow-up. Two patients underwent kidney transplantation. Four patients were still on chronic PD treatment at the end of the study period. Conclusion: When performed by an experienced nephrologist, the performance of partial omentectomy by percutaneous route, when required, is an easy, safe and efficient therapeutic procedure in children on chronic PD treatment. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 30-year-old mother by cesarean section. Topics include the patient has admitted to a neonatal intensive care unit (NICU) with the diagnoses of prematurity, small for gestational age; and Kidney and doppler ultrasonography, performed to investigate the underlying cause of hypertension, have normal.

A young female patient born to consanguineous parents was admitted to our clinic at the age of 3 years with a 5-month history of weight loss and recurrent urinary tract infections. Based on clinical findings (delayed growth and O-bein deformity) and laboratory tests (hypokalemia, hyperchloremia, partially compensated metabolic acidosis, alkaline urine and nephrocalsinosis), a diagnosis of distal renal tubular acidosis (dRTA) was made. Then, the audiogram revealed a bilateral sensorineural hearing loss (SNHL). On follow-up, bilateral SNHL progressively worsened requiring the need for hearing aid. The ATP6V0A4 gene mutation analysis showed homozygote Val2Ala mutation. To the best of our knowledge, this is the first report describing a Turkish girl with dRTA who suffered from early-onset SNHL caused by Val2Ala mutation in the ATP6V0A4 gene. [ABSTRACT FROM AUTHOR]