Work

HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease

Year: 2011

Type: article

Abstract: Gonc EN, Ozturk BB, Haldorsen IS, Molnes J, Immervoll H, Ræder H, Molven A, Søvik O, Njølstad PR. HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. A small-for-gestational age female infant presented with bilateral hypoplastic kidneys at 3 months of age. She developed chronic renal insufficiency. Insulin-requiring, non-autoimmune diabetes was documented at 6 years of age. She had mild steatosis and iron deposition in the liver, and mal-development of pancreas. Genetic studies revealed a heterozygous mutation (S148L) of the HNF1B gene, compatible with an HNF1B-MODY phenotype (MODY5). This is the first case of HNF1B-MODY reported from Turkey and represents a particularly severe phenotype of the disease.

Source: Pediatric Diabetes

DOI: 10.1111/j.1399-5448.2011.00773.x