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An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.

Authors
Lee, GH; An, SY; Sohn, YB; Jeong, SY; Chung, YS
Citation
Journal of Korean medical science, 28(11):1682-1686, 2013
Journal Title
Journal of Korean medical science
ISSN
1011-89341598-6357
Abstract
A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment was improved. Examinations of bone and metabolism revealed osteoporosis and craniofacial abnormalities. The mutation (c.6443T>G) of the NOTCH2 gene was found. The patient was diagnosed with HCS and DM. There may be a relationship between HCS and DM, with development of pancreatic symptoms related to the NOTCH2 gene mutation.
Keywords
Diabetic KetoacidosisHajdu-Cheney Syndrome
DOI
10.3346/jkms.2013.28.11.1682
PMID
24265536
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Journal Papers > School of Medicine / Graduate School of Medicine > Endocrinology & Metabolism
AJOU Authors
손, 영배정, 선용정, 윤석
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