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

• Screening
• Genetic Testing
• Download HNF-1b Diagnostic Request form
• Download HNF-1b Information Sheet
• References
• Links
• Contacts