Renal cysts and diabetes (RCAD)

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. Also hypomagnesemia is a common symptom.

Test 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.

Pathogenesis

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

Systematic

Cystic kidney disease
	Alagille syndrome 2
	Autosomal dominant polycystic kidney disease
	Autosomal recessive polycystic kidney and hepatic disease 1
	Branchiootorenal dysplasia
	Glomerulocystic kidney disease with hyperuricemia and isosthenuria
	Hajdu-Cheney syndrome
	Medullary cystic disease complex
	Polycystic kidney disease with hyperinsulinemic hypoglycemia
	Renal cysts and diabetes (RCAD)
		HNF1B