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Copyright of Journal of Reconstructive Urology is the property of Turkiye Klinikleri and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objectives: This study aims to investigate the clinical impact of the R202Q (c.605G>A) alteration of Mediterranean fever (MEFV) gene in children with familial Mediterranean fever (FMF). Patients and methods: Medical records of 115 patients (51 males, 64 females; mean age 6.6±3.8 years; range 8 months to 15.8 years) presenting with FMF pre-diagnosis were examined. Patients were classified into two groups based on number of mutated alleles (one-mutant allele and two-mutant alleles), and these groups were classified into three subgroups (Group 1; subgroup 1: M694V/R202Q, subgroup 2: M694V/other, subgroup 3: other/other, and Group 2; subgroup 4: R202Q/-, subgroup 5: other/-, subgroup 6: -/-). Sex, age, abdominal pain, fever, arthritis or arthralgia, myalgia, erysipelas-like erythema, chest pain, amyloidosis, family history of FMF, and definitive FMF frequency were compared between groups. Results: The most common allele alterations were the heterozygous R202Q alteration (27%) and the compound heterozygous mutation M694V/ R202Q (20.9%). The R202Q alteration of MEFV gene was detected in 76 patients (66%) (15 homozygous). There was non-M694V (E148Q, V726A) mutation in two of these patients. One (50%) of the patients with isolated R202Q homozygous alteration and six (19%) of the patients with isolated R202Q heterozygous alteration had definitive FMF. In the two-mutant allele group; abdominal pain, fever, arthritis/arthralgia, and definitive FMF frequency were lower in subgroup 1 than subgroup 2. There was no significant difference in clinical findings and definitive FMF frequency between subgroup 2 and subgroup 3. In the one-mutant allele group, clinical findings did not differ between subgroups. Conclusion: R202Q alteration of the MEFV gene may lead to symptoms consistent with FMF. However, R202Q/M694V compound heterozygosity is more associated with mild phenotype than compound heterozygous mutation of M694V. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi is the property of Turkish Journal of Pediatric Disease and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

This study was performed to evaluate the clinical course and renal outcome of patients with unilateral multicystic dysplastic kidney (MCDK). We retrospectively reviewed the medical records of 59 cases with MCDK followed at Şanlıurfa Children’s Hospital between January 2009 and February 2013. The median age of the patients (boys 52.5%) was 31 months (range: 6-197) and the median follow-up period was 23 months (range: 6-111). Forty-two (71.2%) patients were diagnosed antenatally. The MCDKs were found more often on the right side (55.9%). The most frequently associated urological abnormality was contralateral vesicoureteral reflux (VUR) (26.6%). A total of 3 (5%) patients developed chronic renal insufficiency (CRI), 2 of whom had grade IV and V VUR; the other patient with CRI had a small and hyperechogenic contralateral kidney, suggesting dysplasia-hypoplasia, without any urological anomalies on imaging studies. The size of MCDK was unchanged in 20 (34%), had regressed in 26 (44%), and had increased in 9 (15.3%) patients. Total involution was documented in 4 (6.7%) patients. Compensatory hypertrophy occurred in 36/45 (80%) patients, with a mean age of 19.2±8.3 months. Proteinuria and hypertension were detected in 1 (1.7 %) patient each. In conclusion, abnormalities in the contralateral kidney in patients with MCDK increase the risk of renal failure. An initial investigation for associated urinary tract malformations should be done and the growth and function of the contralateral kidney, hypertension, and proteinuria should be monitored in all children with MCDK. [ABSTRACT FROM AUTHOR]

Tubulointerstitial nephritis (TIN) refers to a group of heterogeneous diseases affecting the interstitial compartment of the kidney. It might be primary or can develop secondary to many urinary systemic diseases. Primary TIN develops mainly following drug usage, exposure to toxins, and also infections and humoral and cell-mediated immune reactions. In some patients, signs of systemic inflammatory reactions can be the first presenting symptoms. Histopathological evaluation reveals mononuclear cells and lymphocytes in the interstitium and tubuli. Acute and chronic TIN can resolve after elimination of the culprit destructive factors, as drugs, toxins and immune reaction. Combination of tubulointerstitial inflammation and uveitis is termed as tubulointerstitial nephritis-uveitis (TINU) syndrome. Uveitis might occur before, after, and also concomitantly with TIN. Herein, two adolescent cases of TIN and TINU, seemingly developed secondary to paracetamol and codeine phosphate use, are presented. [ABSTRACT FROM AUTHOR]

Chronic kidney disease (CKD) is a life-long condition associated with substantial morbidity and premature death due to complications from a progressive decrease in kidney function. Especially in children, early diagnosis and detection of the etiologic factors are important to improve their health outcomes. Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal-dominant disorder characterized by hyperuricemia with renal uric acid under-excretion and CKD. Genetic studies have revealed mutations in the uromodulin (UMOD) gene. Highlighting the importance of CKD in children, a 14-year-old girl with the rare diagnosis of FJHN is reported herein. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate associated urological anomalies and renal outcome in children with unilateral renal agenesis (URA). Medical records of 51 cases of URA followed at Şanlıurfa Children's Hospital between January 2009 and December 2012 were reviewed retrospectively. In all patients, diagnosis was made by abdominal ultrasound (US) and confirmed by a radionuclide scan. The children were between 3 months and 17 years of age (median age: 5 years). There were 31 males (60.8%) and 20 females (39.2%). In 33 patients (67.3%), the left kidney was absent. Urological anomalies were found in 12/51 patients (23.5%), including ureterovesical junction obstruction in 4 (7.8%), bladder dysfunction in 2 (3.9%), and vesicoureteral reflux (VUR), ureteropelvic junction obstruction, ureterovesical and ureteropelvic junction obstruction, duplicated collecting system plus grade IV VUR, ectopic kidney plus grade V VUR, and ectopic kidney in 1 patient (2%) each. Chronic renal insufficiency (CRI) developed in 5/51 patients (9.8%) (stage III in 3 patients and stage IV in 2), 4 of whom had additional urological anomaly; in the remaining 1 patient, a 17-year-old female, imaging studies were normal except for a small and hyperechogenic solitary kidney determined on US. A total of 3 patients (5.8%) developed hypertension, and all except one had an associated urological anomaly. Proteinuria was seen in 2 patients (3.8%) with stage IV CRI, one of whom was also hypertensive. In conclusion, urological anomalies usually accompany URA and should be followed closely to decrease the risk of renal failure. [ABSTRACT FROM AUTHOR]

Immune checkpoint inhibitors are humanized antibodies that inhibit downregulatory receptors on T cells, enhancing the antitumor activity of these cells. However, they have been associated with a wide range of systemic immune-related adverse events, including renal toxicities, among others. Most renal immune-related adverse events are acute interstitial nephritis causing acute kidney injury. Recently, immune checkpoint inhibitors-associated glomerular diseases, including IgA nephropathy, have been reported in adults. Most of the adult cases with glomerular involvement had also concomitant acute interstitial nephritis and acute kidney injury. We present the first pediatric case of IgA nephropathy without acute kidney injury during nivolumab treatment., Competing Interests: The authors declare no conflict of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Background/aim: There is limited data on COVID-19 disease in children with kidney disease. We aimed to investigate the characteristics and prognosis of COVID-19 in pediatric nephrology patients in Turkey., Materials and Methods: This was a national, multicenter, retrospective cohort study based on an online survey evaluating the data between 11 th March 2020 and 11 th March 2021 as an initial step of a detailed pediatric nephrology COVID-19 registry., Results: Two hundred and three patients (89 girls and 114 boys) were diagnosed with COVID-19. One-third of these patients (36.9%) were between 10-15 years old. Half of the patients were on kidney replacement therapy: kidney transplant (KTx) recipients (n = 56, 27.5%), patients receiving chronic hemodialysis (n = 33, 16.3%) and those on peritoneal dialysis (PD) (n = 18, 8.9%). Fifty-four (26.6%) children were asymptomatic. Eighty-two (40.3%) patients were hospitalized and 23 (28%) needed intensive care unit admission. Fifty-five percent of the patients were not treated, while the remaining was given favipiravir (20.7%), steroid (16.3%), and hydroxychloroquine (11.3%). Acute kidney injury developed in 19.5% of hospitalized patients. Five (2.4%) had MIS-C. Eighty-three percent of the patients were discharged without any apparent sequelae, while 7 (3.4%) died. One hundred and eight health care staff were infected during the study period., Conclusion: COVID-19 was most commonly seen in patients who underwent KTx and received HD. The combined immunosuppressive therapy and frequent exposure to the hospital setting may increase these patients' susceptibility. Staff infections before vaccination era were alarming, various precautions should be taken for infection control, particularly optimal vaccination coverage., (© TÜBİTAK.)

Aim: To investigate different etiologies and management of the rhabdomyolysis in children., Methods: Eight pediatric rhabdomyolysis cases who applied to the Dokuz Eylul University Faculty of Medicine Department of Pediatric Nephrology with different etiologies between January 2004 and January 2012 were evaluated in terms of age, gender, admission symptoms, physical examination findings, factors provoking rhabdomyolysis, number of rhabdomyolysis attacks, laboratory results, family history and the final diagnosis received after the treatment., Results: Average diagnosis ages of eight cases were 129 (24-192) ± 75.5 mo and five of them were girls. All of them had applied with the complaint of muscle pain, calf pain, and dark color urination. Infection (pneumonia) and excessive physical activity were the most important provocative factors and excessive licorice consumption was observed in one case. In 5 cases, acute kidney injury was determined and two cases needed hemodialysis. As a result of the further examinations; the cases had received diagnoses of rhabdomyolysis associated with mycoplasma pneumoniae, sepsis associated rhabdomyolysis, licorice-induced hypokalemic rhabdomyolysis, carnitine palmitoyltransferase II deficiency, very long-chain acyl-CoA dehydrogenase deficiency, congenital muscular dystrophy and idiopathic paroxysmal rhabdomyolysis (Meyer-Betz syndrome)., Conclusion: It is important to distinguish the sporadic and recurrent rhabdomyolysis cases from each other. Recurrent rhabdomyolysis cases should follow up more regardful and attentive., Competing Interests: Conflict-of-interest statement: We have no financial relationships to disclose.

The aim of this study was to evaluate associated urological anomalies and renal outcome in children with unilateral renal agenesis (URA). Medical records of 51 cases of URA followed at Şanlıurfa Children 's Hospital between January 2009 and December 2012 were reviewed retrospectively. In all patients, diagnosis was made by abdominal ultrasound (US) and confirmed by a radionuclide scan. The children were between 3 months and 17 years of age (median age: 5 years). There were 31 males (60.8%) and 20 females (39.2%). In 33 patients (67.3%), the left kidney was absent. Urological anomalies were found in 12/51 patients (23.5%), including ureterovesical junction obstruction in 4 (7.8%), bladder dysfunction in 2 (3.9%), and vesicoureteral reflux (VUR), ureteropelvic junction obstruction, ureterovesical and ureteropelvic junction obstruction, duplicated collecting system plus grade IV VUR, ectopic kidney plus grade V VUR, and ectopic kidney in 1 patient (2%) each. Chronic renal insufficiency (CRI) developed in 5/51 patients (9.8%) (stage III in 3 patients and stage IV in 2), 4 of whom had additional urological anomaly; in the remaining 1 patient, a 17-year-old female, imaging studies were normal except for a small and hyperechogenic solitary kidney determined on US. A total of 3 patients (5.8%) developed hypertension, and all except one had an associated urological anomaly. Proteinuria was seen in 2 patients (3.8%) with stage IV CRI, one of whom was also hypertensive. In conclusion, urological anomalies usually accompany URA and should be followed closely to decrease the risk of renal failure.

Chronic kidney disease (CKD) is a life-long condition associated with substantial morbidity and premature death due to complications from a progressive decrease in kidney function. Especially in children, early diagnosis and detection of the etiologic factors are important to improve their health outcomes. Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal-dominant disorder characterized by hyperuricemia with renal uric acid under-excretion and CKD. Genetic studies have revealed mutations in the uromodulin (UMOD) gene. Highlighting the importance of CKD in children, a 14-year-old girl with the rare diagnosis of FJHN is reported herein.

In this study, we aimed to investigate the relationship between renal P-glycoprotein (rP-gp) expression and response to corticosteroid therapy in childhood nephrotic syndrome (NS). Expression of rP-gp was evaluated prior to non-steroid immunosuppressive therapy in children with NS (Group 1), prior to any treatment in children with immunoglobulin (Ig)A nephropathy (Group 2), and during renal donation in healthy adults (Group 3); mesangial proliferation was evaluated in Groups 1 and 2. Total dosage of steroid was calculated in Group 1. The ratio of rP-gp (+) glomeruli was higher in Group 1 than Group 3 (33.8 ± 27.1% vs 4.7 ± 4.6%, p=0.000). There were no rP-gp (+) glomeruli in Group 2. The rate of mesangial proliferation was similar in Groups 1 and 2. There was no statistically significant correlation between rP-gp expression and total steroid dosage (r=0.455, p=0.160). Our findings showed that rP-gp expression is increased in patients receiving steroid therapy for NS regardless of the cumulative steroid dosage and mesangial cell proliferation.

Unlabelled: We aimed to report a healed renal parenchymal defect after 6 years in a 9-year-old girl who was being followed for recurrent urinary tract infection (UTI). The first UTI was at the age of two. She was being followed with ultrasonography, urine analysis and urine culture since the first UTI. Technetium-99m dimercaptosuccinic acid (DMSA) scintigraphy was repeated four times up to the present day. She had a renal parenchymal defect reported as parenchymal scarring, which healed 6 years after the first DMSA scintigraphy., Conflict of Interest: None declared.

Secondary pseudohypoaldosteronism type 1 develops due to transient aldosterone resistance in renal tubules and is characterized by renal sodium loss, hyponatremia, hyperkalemia and high plasma aldosterone levels. Although many reasons are described, urinary tract infections and/or urinary tract anomalies are the most common causes. Although the cause of the tubular resistance is not known exactly, renal scar development due to obstruction and reduced sensitivity of mineralocorticoid receptors due to cytokines such as transforming growth factor (TGF)-beta are the possible mechanisms. It is seen especially within the first three months of life and the frequency decreases with age. The treatment is usually elimination of the underlying cause. In this article, we present four patients with several urinary tract anomalies and concomitant urinary tract infection who developed transient secondary pseudohypoaldosteronism.