maturity onset diabetes of the young type 5

(redirected from familial hypoplastic glomerulocystic kidney disease)

maturity onset diabetes of the young type 5

An autosomal dominant condition (OMIM:137920) characterised by non-diabetic renal disease (due to defective renal development) and diabetes, which may begin under age 25 years—i.e., in keeping with a diagnosis of maturity onset diabetes of the young (MODY). The renal pathology is variable, and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelvices, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricaemic nephropathy.

Molecular pathology
Defects in HNF1B cause maturity onset diabetes of the young type 5.
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