Coexistence of Gilbert Syndrome and Hereditary Spherocytosis in a Child Presenting with Extreme Jaundice / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
;
: 266-269, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-195959
ABSTRACT
Gilbert syndrome is the most common inherited disorder of bilirubin glucuronidation. It is characterized by intermittent episodes of jaundice in the absence of hepatocellular disease or hemolysis. Hereditary spherocytosis is the most common inherited hemolytic anemia and is characterized by spherical, osmotically fragile erythrocytes that are selectively trapped by the spleen. The patients have variable degrees of anemia, jaundice, and splenomegaly. Hereditary spherocytosis usually leads to mild-to-moderate elevation of serum bilirubin levels. Severe hyperbilirubinemia compared with the degree of hemolysis should be lead to suspicion of additional clinical conditions such as Gilbert syndrome or thalassemia. We present the case of a 12-year-old boy with extreme jaundice and nausea. The diagnosis of hereditary spherocytosis was confirmed by osmotic fragility test results and that of Gilbert syndrome by genetic analysis findings.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fragilidade Osmótica
/
Baço
/
Esplenomegalia
/
Talassemia
/
Bilirrubina
/
Diagnóstico
/
Eritrócitos
/
Doença de Gilbert
/
Hemólise
/
Hiperbilirrubinemia
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Pediatric Gastroenterology, Hepatology & Nutrition
Ano de publicação:
2014
Tipo de documento:
Artigo
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