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Renal Cysts and Diabetes (HNF1B)
RCAD (Renal Cysts And Diabetes) is a newly described familial cystic kidney syndrome associated with mutations in the hepatocyte nuclear factor-1ß gene.
Clinical presentations:
- Unexplained familial renal cystic disease
- Renal cysts may be detected in utero
- Early onset non-insulin dependent diabetes
- Genital tract malformations
- Hyperuricaemia and early onset gout
Histological presentations:
- Cystic renal dysplasia
- Oligomeganephronia
- Glomerulocystic disease