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α1‐Antitrypsin deficiency is not an important cause of childhood liver diseases in a multi‐ethnic Southeast Asian population
Author(s) -
Lee Way Seah,
Yap Sook Fan,
Looi Lai Meng
Publication year - 2007
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.2007.01135.x
Subject(s) - medicine , cholestasis , neonatal cholestasis , etiology , pediatrics , population , gastroenterology , prospective cohort study , biliary atresia , liver transplantation , environmental health , transplantation
Aim: We conducted a prospective study to determine the role of α1‐antitrypsin (α1AT) 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 α1AT level and phenotype. α1AT 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 α1AT level below 80 mg/dL. All had marginally low level (range 57–79 mg/dL), but none had a clinical diagnosis of α1AT deficiency. One patient had PiZ‐ heterozygous phenotype (α1AT level 217 mg/dL) while another patient had PiMS heterozygous. Conclusions: α1AT 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 α1AT phenotype is not recommended if there is no family history of neonatal cholestasis of uncertain aetiology, or if α1AT level is above 80 mg/dL.