An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
Journal of Korean Medical Science
;
: 1682-1686, 2013.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Osteoporosis
/
Densidad Ósea
/
Cetoacidosis Diabética
/
Anomalías Craneofaciales
/
Síndrome de Hajdu-Cheney
/
Diabetes Mellitus Tipo 1
/
Receptor Notch2
/
Glucosuria
/
Cuerpos Cetónicos
/
Mutación
Límite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2013
Tipo del documento:
Artículo
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