Title Extrarenal manifestations and long-term kidney outcomes of hnf1-beta nephropathy in children: systemic review /
Translation of Title HNF1- beta nefropatijos ekstrarenalinė išraiška vaikystėje ir ilgalaikės inkstų išeitys: sisteminė literatūros apžvalga.
Authors Abraitytė, Lauryna
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Pages 39
Keywords [eng] HNF1B nefropatija, HNF1B asocijuota liga, pediatrija, ekstrarenalinės manifestacijos, ilgalaikės inkstų išeitys. HNF1B nephropathy, HNF1B-associated disease, pediatrics, extrarenal manifestations, long-term kidney outcomes.
Abstract [eng] Adult manifestations of HNF1B deficiency are increasingly recognized, yet a comprehensive assessment of the phenotype and long-term kidney outcomes in HNF1B nephropathy across childhood and adulthood remains elusive. This systematic literature review aims to delineate the longitudinal trajectory of kidney function, kidney – associated complications, and extrarenal manifestations in genetically confirmed HNF1B nephropathy cases across pediatric and adult populations, offering practical recommendations for clinicians. Scientific publications were screened in PubMed/Medline database, resulting in 91 included studies with 528 eligible patients. Only full-text clinical case reports and case series with sufficient patient-level data were included for aggregated analysis. Of the patients, 52% presented with de novo HNF1B mutations and 48% with inherited mutations, with whole HNF1B gene deletion being the most prevalent mutation category up to age 50. Furthermore, a tendency for kidney function deterioration was observed, with an average yearly estimated glomerular filtration rate decline of -2.56 ml/min/1.73m². Linear regression analysis identified older age and higher estimated glomerular filtration rate at diagnosis as statistically significant predictors of estimated glomerular filtration rate change. Kaplan-Meier survival curve modeling revealed that by age 29, 10% of patients had reached chronic kidney disease stage 5, increasing to 40% by age 58, indicating a higher risk of progression to end-stage kidney disease. Prenatally, hyperechogenic kidneys were most prevalent (62%), while kidney cysts were more frequent at diagnosis (68%) and last follow-up (73%). Notably, proteinuria incidence (39%) exceeded hypertension (16%), and hyperuricemia emerged as the most prevalent extrarenal manifestation (41%), followed by diabetes (39%) and hypomagnesemia (32%). Proteinuria and hypomagnesemia were most common in the partial HNF1B gene deletion group (P = 0.008 and P = 0.006, respectively), while hyperuricemia predominated in the splice site mutation group (P = 0.002). 163 patients had diabetes, with a median onset age of 22 years (interquartile range: 19.5 years), spanning from 1 to 65 years, and occurring in 50% of cases by age 22. Clinicians should suspect HNF1B-associated disease in patients presenting with hyperechogenic kidneys and kidney cysts, particularly in those with concurrent diabetes, hyperuricemia or hypomagnesemia, even without a positive family history. These findings underscore the importance of regular kidney function monitoring and consideration of mutation type in patient management.
Dissertation Institution Vilniaus universitetas.
Type Master thesis
Language English
Publication date 2024