Motamed Farzaneh, Mehrabani Sanaz, Monajemzadeh Maryam, Haghi Ashtiani Mohammad Taghi, Hosseinverdi Sima, Houshmand Masoud, Aryani Omid, Najafi Mehri, Farahmand Fatemeh, Kiani Mohammad Ali, Khodadad Ahmad, Fallahi Gholam Hossein, Khatami Gholamreza, Rezaei Nima
Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Turk J Gastroenterol. 2015 May;26(3):251-3. doi: 10.5152/tjg.2015.6339.
BACKGROUND/AIMS: There is little data concerning the incidence of alpha-1-antitrypsin"(AAT) deficiency, the most common genetic cause of liver disease, among children with neonatal cholestasis in Iran. Thus, this study was performed to analyze AAT deficiency in this group of patients.
DNA samples from patients with neonatal cholestasis were investigated for Pi S and Pi Z alleles, using polymerase chain reaction-restriction fragment length polymorphism.
Thirty patients with neonatal cholestasis were enrolled. Among those who underwent biopsies, the results revealed neonatal hepatitis in 19, bile duct paucity in 1, steatohepatitis in 1, bile duct proliferation in 1, cirrhosis in 2, fibrosis in 2, and extrahepatic biliary atresia in 1 patient. No mutant allele was found in any patient.
The incidence of AAT deficiency is very low in Iran; therefore, screening for AAT is not recommended for patients with neonatal cholestasis in Iran.
背景/目的：在伊朗新生儿胆汁淤积症患儿中，关于α-1-抗胰蛋白酶（AAT）缺乏症（肝病最常见的遗传病因）的发病率数据很少。因此，本研究旨在分析该组患者中的AAT缺乏症。
采用聚合酶链反应-限制性片段长度多态性方法，对新生儿胆汁淤积症患者的DNA样本进行Pi S和Pi Z等位基因检测。
纳入30例新生儿胆汁淤积症患者。在接受活检的患者中，结果显示19例为新生儿肝炎，1例为胆管稀少，1例为脂肪性肝炎，1例为胆管增生，2例为肝硬化，2例为纤维化，1例为肝外胆管闭锁。未在任何患者中发现突变等位基因。
伊朗AAT缺乏症的发病率非常低；因此，不建议对伊朗新生儿胆汁淤积症患者进行AAT筛查。
