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Definition

An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.

Acronym

RCAD

Synonyms

Atypical familial juvenile hyperuricemic nephropathy
Atypical FJHN
CAKUT with diabetes
Congenital anomalies of the kidney and urinary tract with diabetes
Familial hypoplastic glomerulocystic kidney
Glomerulocystic kidney disease hypoplastic type
Maturity-onset diabetes of the young type 5
MODY5
Renal-diabetes MODY5 syndrome

Keywords

Diabetes mellitus

 
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