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Öğe Adolescence-onset atypical hemolytic uremic syndrome: is it different from infant-onset?(Springer, 2024) Çelegen, Kübra; Gülhan, Bora; Fidan, Kibriya; Yüksel, Selçuk; Yılmaz, Neslihan; Çaltık Yılmaz, Aysun; Demircioğlu Kılıç, BeltingeBackground: Atypical hemolytic uremic syndrome (aHUS) is a rare, mostly complement-mediated thrombotic microangiopathy. The majority of patients are infants. In contrast to infantile-onset aHUS, the clinical and genetic characteristics of adolescence-onset aHUS have not been sufficiently addressed to date. Methods: A total of 28 patients (21 girls, 7 boys) who were diagnosed as aHUS between the ages of >= 10 years and <18 years were included in this study. All available data in the Turkish Pediatric aHUS registry were collected and analyzed. Results: The mean age at diagnosis was 12.8 +/- 2.3 years. Extra-renal involvement was noted in 13 patients (46.4%); neurological involvement was the most common (32%). A total of 21 patients (75%) required kidney replacement therapy. Five patients (17.8%) received only plasma therapy and 23 (82%) of the patients received eculizumab. Hematologic remission and renal remission were achieved in 25 (89.3%) and 17 (60.7%) of the patients, respectively. Compared with the infantile-onset aHUS patients, adolescent patients had a lower complete remission rate during the first episode (p = 0.002). Genetic analyses were performed in all and a genetic variant was detected in 39.3% of the patients. The mean follow-up duration was 4.9 +/- 2.6 years. At the last visit, adolescent patients had lower eGFR levels (p = 0.03) and higher rates of chronic kidney disease stage 5 when compared to infantile-onset aHUS patients (p = 0.04). Conclusions: Adolescence-onset aHUS is a rare disease but tends to cause more permanent renal dysfunction than infantile-onset aHUS. These results may modify the management approaches in these patients.Öğe Correction to: Adolescence‑onset atypical hemolytic uremic syndrome: is it different from infant‑onset?(Springer, 2024) Çelegen, Kübra; Gülhan, Bora; Fidan, Kibriya; Yüksel, Selçuk; Yılmaz, Neslihan; Çaltık Yılmaz, Aysun; Demircioğlu Kılıç, Beltinge[Abstract Not Available]Öğe Publisher Correction: The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases?(Springer, 2025) Uğurlu, Yüksel; Gülhan, Bora; Dursun, İsmail; Nalcacıoğlu, Hülya; Kaya Aksoy, Gülşah; Canpolat, Nur; Bayazit, Aysun; Yüksel, Selçuk[No abstract available]Öğe The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases?(Springer, 2025) Uğurlu, Yüksel; Gülhan, Bora; Dursun, İsmail; Nalcacıoğlu, Hülya; Kaya Aksoy, Gülşah; Canpolat, Nur; Bayazıt, Aysun; Yüksel, SelçukBackgroundManaging 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 informationÖğe Variable phenotype and genotype of pediatric patients with HNF1B nephropathy(Dustri-Verlag Dr Karl Feistle, 2024) Gülhan, Bora; Ekici, Ozan; Dursun, İsmail; Göknar, Nilufer; Yüksel, Selçuk; Alaygut, Demet; Birsin Özçakar, ZeynepAims: 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.Öğe Variable phenotype and genotype of pediatric patients with HNF1B nephropathy(Springer, 2024) Gülhan, Bora; Ekici, Ozan; Dursun, İsmail; Göknar, Nilüfer; Yüksel, Selçuk; Alaygut, Demet; Özçakar, Zeynep Birsin[Abstract Not Available]
