alpha1-Antitrypsin deficiency is not an important cause of childhood liver diseases in a multi-ethnic Southeast Asian population.
OBJECTIVE
We conducted a prospective study to determine the role of alpha1-antitrypsin (alpha1AT) deficiency in the pathogenesis of neonatal cholestasis and other childhood liver diseases in a multi-ethnic Southeast Asian population.


METHODS
Prospective patients with neonatal cholestasis (group 1), other liver diseases (group 2) and children with other medical conditions (group 3) referred to the Paediatric Unit, University of Malaya Medical Centre, Malaysia, from May 2002 to June 2005, were screened for alpha1AT level and phenotype. alpha1AT level below 80 mg/dL was considered as low.


RESULTS
Of the 114 patients (group 1, n = 53; group 2, n = 42; group 3, n = 19) screened, seven patients (6% of total; group 1, n = 1; group 2, n = 4; group 3, n = 2) had a alpha1AT level below 80 mg/dL. All had marginally low level (range 57-79 mg/dL), but none had a clinical diagnosis of alpha1AT deficiency. One patient had PiZ- heterozygous phenotype (alpha1AT level 217 mg/dL) while another patient had PiMS heterozygous.


CONCLUSIONS
alpha1AT deficiency is not an important cause of neonatal cholestasis and childhood liver diseases in Malaysian children. In Malaysian children with neonatal cholestasis or other liver diseases, routine assay for alpha1AT phenotype is not recommended if there is no family history of neonatal cholestasis of uncertain aetiology, or if alpha1AT level is above 80 mg/dL.
Lee
Way Seah
WS
Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur, Malaysia. leews@um.edu.my
Yap
Sook Fan
SF
Looi
Lai Meng
LM
D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000208:ethnology / Q000209:etiology* / Q000235:genetics; D005260:Female; D006785:Hospitals, University; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008107:Liver Diseases / Q000208:ethnology / Q000209:etiology* / Q000235:genetics; D008296:Malaysia / Q000453:epidemiology; D008297:Male; D010641:Phenotype; D011446:Prospective Studies; D000515:alpha 1-Antitrypsin / Q000097:blood; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000208:ethnology
D000515:alpha 1-Antitrypsin