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

E. Nazli Gonc; Burcu Bulum Ozturk; Ingfrid S. Haldorsen; Janne Molnes; Heike Immervoll; Helge Ræder; Anders Molven; Oddmund Søvik; Pål R. Njølstad

doi:10.1111/j.1399-5448.2011.00773.x

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

E. Nazli Gonc
, Burcu Bulum Ozturk
, Ingfrid S. Haldorsen
, Janne Molnes
, Heike Immervoll
, Helge Ræder
, Anders Molven
, Oddmund Søvik
, Pål R. Njølstad

Division of Pediatrics

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

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.

Original language	English
Pages (from-to)	e1-e5
Journal	Pediatric Diabetes
Volume	13
Issue number	2
DOIs	https://doi.org/10.1111/j.1399-5448.2011.00773.x
Publication status	Published - Mar 2012

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Diabetes mellitus, type 2
Gene
Hepatocyte nuclear factor 1-beta
Kidney failure, chronic
Pancreas, exocrine

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10.1111/j.1399-5448.2011.00773.x

Cite this

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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.",

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TY - JOUR

T1 - HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease

AU - Gonc, E. Nazli

AU - Ozturk, Burcu Bulum

AU - Haldorsen, Ingfrid S.

AU - Molnes, Janne

AU - Immervoll, Heike

AU - Ræder, Helge

AU - Molven, Anders

AU - Søvik, Oddmund

AU - Njølstad, Pål R.

PY - 2012/3

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N2 - 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.

AB - 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.

KW - Diabetes mellitus, type 2

KW - Gene

KW - Hepatocyte nuclear factor 1-beta

KW - Kidney failure, chronic

KW - Pancreas, exocrine

UR - https://www.scopus.com/pages/publications/84857504562

U2 - 10.1111/j.1399-5448.2011.00773.x

DO - 10.1111/j.1399-5448.2011.00773.x

M3 - Article

C2 - 21767339

AN - SCOPUS:84857504562

SN - 1399-543X

VL - 13

SP - e1-e5

JO - Pediatric Diabetes

JF - Pediatric Diabetes

IS - 2

ER -

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

Abstract

UN SDGs

Keywords

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