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An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
- Source :
- Journal of Korean Medical Science
- Publication Year :
- 2013
- Publisher :
- The Korean Academy of Medical Sciences, 2013.
-
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.
- Subjects :
- Adult
Male
medicine.medical_specialty
Pediatrics
Hajdu–Cheney syndrome
Diabetic ketoacidosis
endocrine system diseases
Craniofacial abnormality
medicine.medical_treatment
Osteoporosis
Case Report
Ketone Bodies
Gene mutation
Hajdu-Cheney Syndrome
Diabetic Ketoacidosis
Craniofacial Abnormalities
Young Adult
Bone Density
Glycosuria
Internal medicine
medicine
Humans
Receptor, Notch2
Type 1 diabetes
business.industry
Insulin
General Medicine
medicine.disease
Radiography
Endocrinology
Diabetes Mellitus, Type 1
Mutation
Ketone bodies
Endocrinology, Nutrition & Metabolism
business
Subjects
Details
- Language :
- English
- ISSN :
- 15986357 and 10118934
- Volume :
- 28
- Issue :
- 11
- Database :
- OpenAIRE
- Journal :
- Journal of Korean Medical Science
- Accession number :
- edsair.doi.dedup.....d8ecc8e4c1c1c2810f2005219b1559a1