Variable phenotype and genotype of pediatric patients with HNF1B nephropathy

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dc.authoridNalcacioglu, Hulya/0000-0002-0686-9714
dc.contributor.authorGulhan, Bora
dc.contributor.authorEkici, Ozan
dc.contributor.authorDursun, Ismail
dc.contributor.authorGoknar, Nilufer
dc.contributor.authorYuksel, Selcuk
dc.contributor.authorAlaygut, Demet
dc.contributor.authorOzcakar, Zeynep Birsin
dc.date.accessioned2025-01-27T20:20:39Z
dc.date.available2025-01-27T20:20:39Z
dc.date.issued2024
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractAims: 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.
dc.identifier.doi10.5414/CN111310
dc.identifier.endpage88
dc.identifier.issn0301-0430
dc.identifier.issue2
dc.identifier.pmid38699986
dc.identifier.startpage79
dc.identifier.urihttps://doi.org/10.5414/CN111310
dc.identifier.urihttps://hdl.handle.net/20.500.12428/21777
dc.identifier.volume102
dc.identifier.wosWOS:001222804200001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherDustri-Verlag Dr Karl Feistle
dc.relation.ispartofClinical Nephrology
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectHNF1B nephropathy
dc.subjectphenotype
dc.subjectgenotype
dc.titleVariable phenotype and genotype of pediatric patients with HNF1B nephropathy
dc.typeArticle

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