Clinical Reviews
Chronic diarrhea, hepatomegaly and elevated serum transaminases: a case report
Authors:
Aguilar Domingo Ma, Hernangómez Cuesta MTJb, Escuriet Ojeda JMc, Victoria Jimeno Cd
Reference of this article.:
Aguilar Domingo M, Hernangómez Cuesta MTJ, Escuriet Ojeda JM, Victoria Jimeno C. Diarrea crónica, hepatomegalia e hipertransaminemia: a propósito de un caso. Rev Pediatr Aten Primaria. 2007;9: 231-5.
Published in Internet: 30/06/2007
Abstract:
We report a case of a 2-year-old girl with severe A1AT (alfa 1 antitrypsin deficiency), who developed diarrhea, elevated serum liver enzymes and hepatomegaly without any other clinical conditions that may accompany A1AT deficiency. During the first two decades of life, liver dysfunction is the major threat to the health of alpha-1-antitrypsin affected individuals, and pulmonary dysfunction is not a major concern. A1AT deficiency is approximately as common as cystic fibrosis, and today becomes imperative to identify affected individuals due to the availability of specific therapy for A1AT deficiency. The diagnosis of severe A1AT deficiency is confirmed by demonstrating a serum level below 80 mg/dL (11 µmol/L) in combination with a severe deficient genotype.Keywords: Chronic diarrhea. Liver disease. Hepatomegaly. Elevated serum transaminases. Alpha-1-antitrypsin deficiency.
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