title: HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease.
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.
authors.affiliation: Department of Pediatric Endocrinology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey. ngonc@hacettepe.edu.tr
authors.forename: E Nazli
authors.initials: EN
authors.lastname: Gonc
authors.forename: Burcu Bulum
authors.initials: BB
authors.lastname: Ozturk
authors.forename: Ingfrid S
authors.initials: IS
authors.lastname: Haldorsen
authors.forename: Janne
authors.initials: J
authors.lastname: Molnes
authors.forename: Heike
authors.initials: H
authors.lastname: Immervoll
authors.forename: Helge
authors.initials: H
authors.lastname: Raeder
authors.forename: Anders
authors.initials: A
authors.lastname: Molven
authors.forename: Oddmund
authors.initials: O
authors.lastname: Søvik
authors.forename: Pål R
authors.initials: PR
authors.lastname: Njølstad
mesh_terms: D001483:Base Sequence; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005260:Female; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents; D007223:Infant; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D007328:Insulin / Q000627:therapeutic use; D008107:Liver Diseases / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009154:Mutation; D051437:Renal Insufficiency / Q000235:genetics*; D012720:Severity of Illness Index; D014421:Turkey
chemical_list: C496495:HNF1B protein, human; D007004:Hypoglycemic Agents; D007328:Insulin; D051539:Hepatocyte Nuclear Factor 1-beta