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. |
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Renal cysts | |
renal cysts in RCAD are not necessarily symmetrical. |
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Hypomagnesaemia | |
Hypomagnesemia is observed in most of the patients with RCAD though it is not a symptom that dominates the clinical picture. |
1. |
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. |
2. |
Bingham C et al. (2002) Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. |
3. |
Adalat S et al. (2009) HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. |
4. |
OMIM.ORG article Omim 137920 |