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.
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.
The gene codes a transcription factor that is involved in cell regulation during kidney development and insulin secretion.
|Malformations of the urinary tract|
Malformations in RCAD are predominantly cystic. Because apparent soon after birth, they precede diabetes.
renal cysts in RCAD are not necessarily symmetrical.
Hypomagnesemia is observed in most of the patients with RCAD though it is not a symptom that dominates the clinical picture.
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.[^]
Bingham C et al. (2002) Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.[^]
Adalat S et al. (2009) HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.[^]
OMIM.ORG articleOmim 137920 [^]