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    The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases?
    (Springer, 2025) Ugurlu, Yueksel; Gulhan, Bora; Dursun, Ismail; Nalcacioglu, Huelya; Kaya Aksoy, Guelsah; Canpolat, Nur; Bayazit, Aysun
    BackgroundManaging congenital nephrotic syndrome (CNS) remains a clinical challenge. While albumin infusions and nephrectomy have been long-standing treatments, a conservative approach is increasingly favored. This study aimed to compare clinical outcomes between nephrectomy (Nx) and non-Nx in patients with bi-allelic NPHS1 mutations.MethodsThis retrospective cohort study included 29 pediatric CNS patients (15 female, 14 male) with confirmed NPHS1 mutations. Clinical parameters including albumin infusion requirements, infections, hospitalizations, growth, and survival rates were analyzed in the Nx and non-Nx groups.ResultsThe median age at the time CNS was diagnosed was 29 days (IQR: 11-62 days). In all, 24 patients (82.8%) had homozygous NPHS1 mutations and 5 (17.2%) had compound heterozygous NPHS1 mutations. None of the patients had Fin-major mutation (i.e., p. Leu41 Aspfs*50). Unilateral/bilateral nephrectomy was performed in 16 patients. At 12 months post-nephrectomy the number of albumin infusions required, infections, and hospitalizations decreased significantly in the Nx group, as compared to the pre-nephrectomy period (p = 0.001, p = 0.027, and p = 0.004, respectively). Among the 13 (44.8%) patients in the non-Nx group, at 12 months after CNS was diagnosed the number of serum albumin infusions required significantly decreased (p = 0.007); however, the number of infections and hospitalization did not differ significantly (p = 0.589 and p = 0.5, respectively). Receiver operating characteristic (ROC) analysis showed that requiring albumin infusions >= 14 days/month predicted the decision to perform nephrectomy with 68% accuracy (73% sensitivity and 62% specificity).ConclusionsNephrectomy reduces albumin infusions, infections, and hospitalizations, suggesting it may be a beneficial treatment for selected CNS patients with NPHS1 mutations.Graphical abstractA higher resolution version of the Graphical abstract is available as Supplementary information
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    The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases? (may, 10.1007/s00467-025-06774-6, 2025)
    (Springer, 2025) Ugurlu, Yueksel; Gulhan, Bora; Dursun, Ismail; Nalcacioglu, Hulya; Kaya Aksoy, Guelsah; Canpolat, Nur; Bayazit, Aysun
    [No abstract available]
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    Variable phenotype and genotype of pediatric patients with HNF1B nephropathy
    (Dustri-Verlag Dr Karl Feistle, 2024) Gulhan, Bora; Ekici, Ozan; Dursun, Ismail; Goknar, Nilufer; Yuksel, Selcuk; Alaygut, Demet; Ozcakar, Zeynep Birsin
    Aims: Hepatocyte nuclear factor 1 beta ( HNF1B ) mutations are the most common monogenic cause of congenital anomalies of the kidney and urinary tract (CAKUT). We aimed to investigate clinical and genetic characteristics of patients with HNF1B nephropathy to expand its phenotypic and genetic spectrum. Materials and methods: This retrospective cohort study included 16 unrelated pediatric patients (6 females, 10 males) from 13 families with genetically confirmed HNF1B -related nephropathy. Results: Abnormal prenatal kidney abnormalities were present in 13 patients (81.3%). The most common antenatal kidney abnormality was kidney cysts, which were observed in 8 patients (61.5%). Urinary system abnormalities (vesicoureteral reflux (VUR) and ure teropelvic junction obstruction (UPJO)) were present in 4 patients (25%). HNF1B analysis uncovered missense variants in 4 families (30.8%) as the most common genetic abnormality. In addition, 4 novel pathological variations have been defined. During followup, hypomagnesemia and hyperuricemia were observed in 7 (43.8%) and 5 patients (31.3%), respectively. None of the patients with a missense variant had hypomagnesemia. However, 7 out of 12 patients (58.3%) with a non-missense variant had hypomagnesemia (p = 0.09). None of the patients had an HNF1B score below 8, and the mean score was 15.3 +/- 4.4. The mean follow-up period was 7.4 +/- 5.0 years. While 100% of patients (n = 4) with missense variants were in various stages of CKD (CKD2: 2 patients,CKD3: 2 patients), 25% of those with nonmissense variants had CKD (CKD2, 3, and 5; 1 patient, respectively) (p = 0.026). Conclusion: Patients with HNF1B-associated disease have concomitant urinary system abnormalities such as VUR or UPJO. Missense variants seem to be the most common pathological variations in HNF1B gene and have higher risk of CKD.
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    Variable phenotype and genotype of pediatric patients with HNF1B nephropathy [2]
    (Springer, 2024) Gulhan, Bora; Ekici, Ozan; Dursun, Ismail; Goknar, Nilufer; Yuksel, Selcuk; Alaygut, Demet; Ozcakar, Zeynep Birsin
    [No abstract available]