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.
Hypomagnesemia is observed in most of the patients with MODY5 though it is not a symptom that dominates the clinical picture.
|Malformations of the urinary tract|
Malformations in MODY 5 are predominantly cystic. Because apparent soon after birth, they precede diabetes.
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