Severe hypertriglyceridemia in an infant with red cell pyruvate kinase deficiency.
Indian Pediatr
;
2007 Apr; 44(4): 303-5
Artículo
en Inglés
| IMSEAR
| ID: sea-13242
ABSTRACT
Severe hypertriglyceridemia has been observed in infants with beta-thalassemia major, an association termed hypertriglyceridemia-thalassemia syndrome. The pathophysiological basis for this association has remained unclear. We describe 6-month-old American girl with red cell pyruvate kinase (PK) deficiency, failure to thrive, and marked hypertriglyceridemia (=1500 mg/dL). The hyperlipidemia resolved with hypertransfusion therapy. At age 18 months she underwent a splenectomy and has remained transfusion-independent with normal serum triglyceride levels. We suggest that severe hemolysis and chronic wasting are probably responsible for the hypertriglyceridemia seen in infants with thalassemia or PK deficiency.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Piruvato Quinasa
/
Síndrome
/
Femenino
/
Humanos
/
Hipertrigliceridemia
/
Factores de Riesgo
/
Talasemia beta
/
Eritrocitos
/
Lactante
/
Anemia Hemolítica Congénita
Tipo de estudio:
Estudio de etiología
/
Factores de riesgo
Idioma:
Inglés
Revista:
Indian Pediatr
Año:
2007
Tipo del documento:
Artículo
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