A Boy with End-stage Kidney Disease and Hypertriglyceridemia

Abstract

Abstract Mutations in the HNF-1β gene have been found to be associated with renal cysts and diabetes syndrome (RCAD), also known as MODY5. The mutation is inherited in an autosomal dominant fashion, although sporadic mutations can be seen. Pediatric cases of HNF - 1β mutations are more likely to present with renal involvement like renal failure or renal hypoplasia. In young individuals, the detection of renal abnormalities usually pre-date the diagnosis of diabetes with a mean age of 24 years. We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic mutation in the Hepatocyte Nuclear Factor-1β (HNF-1β) gene on chromosome 17q12. This case expands the clinical spectrum of HNF-1β mutation disorders with a take home message, that end stage renal disease patients with unexplained hypertriglyceridemia (even in absence of diabetes mellitus) should alert a clinician for HNF-1β mutational analysis.