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From Mutation to Symptoms: A Multi-Center Study on HNF1B-Related Nephropathy in Chinese Children

2025-08-17

Abstract excerpt

<title>Abstract</title> <p> Background Hepatocyte nuclear factor 1β ( <italic>HNF1B</italic> ) 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 eval...

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Literature Corpus work: fe66662d-7af7-52c8-a2e5-c05491b4c901
DOI: 10.21203/rs.3.rs-7138364/v1

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