A Boy with End-Stage Kidney Disease and Hypertriglyceridemia

Area of Science:

• Genetics
• Nephrology
• Endocrinology

Background:

• Mutations in the Hepatocyte Nuclear Factor-1β (HNF-1β) gene are linked to renal cysts and diabetes syndrome (RCAD/MODY5).
• HNF-1β mutations typically present with renal abnormalities preceding diabetes diagnosis in younger individuals.

Observation:

• A 5-year-old patient with end-stage kidney disease and renal cysts, accompanied by hypertriglyceridemia but no overt diabetes, was identified.
• This patient possessed a known pathogenic mutation in the HNF-1β gene.

Findings:

• The case expands the known clinical spectrum of HNF-1β mutation-related disorders.
• It demonstrates that HNF-1β mutations can manifest with severe renal disease and hypertriglyceridemia in the absence of diagnosed diabetes mellitus.

Implications:

• Clinicians should consider HNF-1β mutational analysis in end-stage renal disease patients with unexplained hypertriglyceridemia, particularly when diabetes is not apparent.
• Early genetic testing can aid in diagnosing and managing HNF-1β-associated conditions, potentially preventing or mitigating complications.