Khanna Rajeev, Alam Seema, Sherwani Rana, Arora Shivali, Arora N K, Malik Ashraf
Department of Pediatrics, J.N. Medical College, AMU, Aligarh 202002, India.
Indian J Gastroenterol. 2006 Jul-Aug;25(4):191-3.
To determine the frequency of alpha-1 antitrypsin (AAT) deficiency in children with chronic liver disease (CLD) and neonatal cholestasis syndrome (NCS).
All children with NCS (n=23) or CLD (n=35) attending the Pediatric Gastroenterology Clinic between November 2003 and July 2005 were screened for AAT deficiency using phenotyping through isoelectric focusing of plasma.
Of the 58 children studied, 57 had normal PiMM phenotype. One child with CLD had the M1E type of normal variant. None of the patients had the abnormal phenotype PiZZ.
AAT deficiency is infrequent among children with CLD and NCS in our region.
确定慢性肝病（CLD）和新生儿胆汁淤积综合征（NCS）患儿中α-1抗胰蛋白酶（AAT）缺乏症的发生率。
对2003年11月至2005年7月期间在儿科胃肠病诊所就诊的所有NCS患儿（n = 23）或CLD患儿（n = 35），采用血浆等电聚焦表型分析筛查AAT缺乏症。
在研究的58名儿童中，57名具有正常的PiMM表型。1名CLD患儿具有正常变异的M1E型。所有患者均无异常表型PiZZ。
在我们地区，CLD和NCS患儿中AAT缺乏症并不常见。
