August 17, 2025Open Access

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

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Genetic analysis revealed that 61.5% of patients had a 17q12 deletion involving hfn1b, affecting renal outcomes.
All patients presented with abnormal renal phenotypes at diagnosis, with renal cysts found in about 50% of cases.
Patients with hfn1b variants showed faster renal function deterioration, indicated by lower eGFR values compared to deletion cases.
The findings highlight the need for genotype-specific prenatal counseling and renal monitoring for these children.

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Implication

Multi-center study reveals genotype-phenotype divergence in renal function outcomes among pediatric HNF1B cases, indicating the need for tailored monitoring.

Cite This Study

Zhang et al. (2025) studied this question.

synapsesocial.com/papers/68af76ad7567bf4f94fef4dc https://doi.org/10.21203/rs.3.rs-7138364/v1

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Implication

Multi-center study reveals genotype-phenotype divergence in renal function outcomes among pediatric HNF1B cases, indicating the need for tailored monitoring.

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

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Implication

Cite This Study

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

Key Points

Discussion

Implication

Cite This Study

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