Clinical feature: 

Definition: RCAD, renal cysts and diabetes an autosomal dominant disorder of glucose metabolism and kidney development. The disease is caused by mutations of TCF2 gene better known as HNF1-beta (HNF1B). The great variability of symptoms accounts for family members with renal symptoms or diabetes only.

Pathogenesis: The gene codes a transcription factor that is involved in cell regulation during kidney development and insulin secretion.

Diagnostics: 

Strategy: In families with kidney dysplasias and type 2 diabetes this disease can be suspected. This suspicion would further supported if there is no association with metabolic syndrome in diabetic individuals.

Literature: 

Bingham C et al. (2002) Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.
Kolatsi-Joannou M et al. (2001) Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.
Adalat S et al. (2009) HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.