Atıf İçin Kopyala
GÖNÇ E. N., Ozturk B., Haldorsen I. S., Molnes J., Immervoll H., Raeder H., ...Daha Fazla
PEDIATRIC DIABETES, cilt.13, sa.2, 2012 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
13
Sayı:
2
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Basım Tarihi:
2012
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Doi Numarası:
10.1111/j.1399-5448.2011.00773.x
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Dergi Adı:
PEDIATRIC DIABETES
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Anahtar Kelimeler:
diabetes mellitus, type 2, gene, hepatocyte nuclear factor 1-beta, kidney failure, chronic, pancreas, exocrine, HEPATOCYTE NUCLEAR FACTOR-1-BETA, CLINICAL SPECTRUM, YOUNG, GENE, DYSFUNCTION, HNF-1-BETA, PHENOTYPES, MELLITUS, CARRIERS, PATIENT
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Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli:
Hayır
Özet
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.