From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children.

ABSTRACT:

Background

Hepatocyte nuclear factor 1β (HNF1B) pathogenic variants constitute a major genetic contributor to congenital anomalies of the kidney and urinary tract (CAKUT), with patients simultaneously exhibiting distinct extrarenal features. Among these clinical manifestations, renal disease progression is crucial for long-term outcomes, needing comprehensive evaluation.

Methods

Using the Chinese Children Genetic Kidney Disease Database (2017-2024), we analyzed 26 pediatric HNF1B cases to characterize renal phenotypes and genotype correlations.

Results

All patients exhibited abnormal renal phenotypes at diagnosis: renal cysts (50%) and multicystic dysplastic kidney (MCDK) (37.5%). Genetic analysis revealed 16 patients (61.5%) had a 17q12 deletion including the HNF1B g

SUBMITTER: Zhang H 

PROVIDER: S-EPMC12723943 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature