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Pediatr Diabetes. 2012 Mar;13(2):e1-5. doi: 10.1111/j.1399-5448.2011.00773.x. Epub 2011 Jul 19.

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

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1
Department of Pediatric Endocrinology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey. ngonc@hacettepe.edu.tr

Abstract

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.

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