An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
Journal of Korean Medical Science
;
: 1682-1686, 2013.
Article
in English
| WPRIM
| ID: wpr-148456
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Osteoporosis
/
Bone Density
/
Diabetic Ketoacidosis
/
Craniofacial Abnormalities
/
Hajdu-Cheney Syndrome
/
Diabetes Mellitus, Type 1
/
Receptor, Notch2
/
Glycosuria
/
Ketone Bodies
/
Mutation
Limits:
Adult
/
Humans
/
Male
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2013
Type:
Article
Similar
MEDLINE
...
LILACS
LIS