An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.
Lee, GH; An, SY; Sohn, YB; Jeong, SY; Chung, YS
Journal of Korean medical science, 28(11):1682-1686, 2013
Journal of Korean medical science
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.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.
Total Visit :5,294,365
Total Download :2,237,073
Today View :3,915
Ajou University Medical Information & Media Center 164 Worldcup-ro Yeongtong-gu Suwon 16499 Korea / TEL : 031-219-5312 / FAX : 031-219-5314 Copyright (c) Ajou University Medical Information & Media Center All Rights Reserved. AJOU Open Repository는 국립중앙도서관 OAK 보급사업으로 구축되었습니다.