Complex glycerol kinase deficiency: two case report and literature review / 临床儿科杂志
Journal of Clinical Pediatrics
;
(12): 197-201, 2018.
Artículo
en Chino
| WPRIM
| ID: wpr-694666
ABSTRACT
Objective To explore the clinical and genetic characteristics of complex glycerol kinase deficiency (GKD). Methods The clinical data of 2 cases of complex GKD were analyzed and the related literatures were reviewed. Results Both cases were male onset in neonatal period, and had hypocorticalism (hyponatremia, hyperkalemia, dehydration), hypercreatine kinasemia, and pseudotriglyceridemia. Gene detection suggested that there was gene deletion in chromosome Xp21 region. In the follow-up, one case had good control of the disease and one died of infection. Conclusions Complex GKD is an X-linked recessive hereditary disease. It is rare and complicated, and is easily misdiagnosed. Early diagnosis and treatment are beneficial to improve the prognosis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio pronóstico
/
Estudio de tamizaje
Idioma:
Chino
Revista:
Journal of Clinical Pediatrics
Año:
2018
Tipo del documento:
Artículo
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