An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
Journal of Korean Medical Science
;
: 1682-1686, 2013.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteoporose
/
Densidade Óssea
/
Cetoacidose Diabética
/
Anormalidades Craniofaciais
/
Síndrome de Hajdu-Cheney
/
Diabetes Mellitus Tipo 1
/
Receptor Notch2
/
Glicosúria
/
Corpos Cetônicos
/
Mutação
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2013
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS