Severe hypertriglyceridemia in an infant with red cell pyruvate kinase deficiency.
Indian Pediatr
;
2007 Apr; 44(4): 303-5
Artigo
em Inglês
| 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:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Piruvato Quinase
/
Síndrome
/
Feminino
/
Humanos
/
Hipertrigliceridemia
/
Fatores de Risco
/
Talassemia beta
/
Eritrócitos
/
Lactente
/
Anemia Hemolítica Congênita
Tipo de estudo:
Estudo de etiologia
/
Fatores de risco
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2007
Tipo de documento:
Artigo
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