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.

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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