MODY5 diabetes is an autosomal dominant disorder of glucose metabolism and kidney development. The disease is caused by mutations of TCF2 gene better known as HNF1-beta.
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.
Hypomagnesaemia | |
Hypomagnesemia is observed in most of the patients with MODY5 though it is not a symptom that dominates the clinical picture. |
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Malformations of the urinary tract | |
Malformations in MODY 5 are predominantly cystic. Because apparent soon after birth, they precede diabetes. |
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 |