Conclusion: The incidence of AAT deficiency is very low in Iran; therefore, screening for AAT is not recommended for patients with neonatal cholestasis in Iran.
📌 3 Maddede Bu Makale
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Amaç & Hipotez: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.
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Temel Bulgular & Veri:Among those who underwent biopsies, the re- sults revealed neonatal hepatitis in 19, bile duct paucity in 1, steatohepatitis in 1, bile duct proliferation in 1, cirrho- sis in 2, fibrosis in 2, and extrahepatic biliary atresia in 1 patient.
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Sonuç & Katkı:Conclusion: The incidence of AAT deficiency is very low in Iran; therefore, screening for AAT is not recommended for patients with neonatal cholestasis in Iran.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Özet
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 per- formed to analyze AAT deficiency in this group of patients. Materials and Methods: DNA samples from patients with neonatal cholestasis were investigated for Pi S and Pi Z alleles, using polymerase chain reaction restriction fragment length polymorphism. Results: Thirty patients with neonatal cholestasis were enrolled. Among those who underwent biopsies, the re- sults revealed neonatal hepatitis in 19, bile duct paucity in 1, steatohepatitis in 1, bile duct proliferation in 1, cirrho- sis in 2, fibrosis in 2, and extrahepatic biliary atresia in 1 patient. No mutant allele was found in any patient. Conclusion: The incidence of AAT deficiency is very low in Iran; therefore, screening for AAT is not recommended for patients with neonatal cholestasis in Iran.
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Bu Makaleye Atıf Yap
MOTAMED, F., MEHRABANİ, S., MONAEMZADEH, M., ASHTIANİ, M. T. H., HOSSEİNVERDİ, S., HOUSMAND, M., ARYANİ, O., NAJAFİ, M., FRAHMAND, F., KİANİ, M. A., KHODADAD, A., FALLAHİ, G. H., REZAEI, N., KHATAMİ, G. (2015). Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis. Turkish Journal of Gastroenterology, Cilt: 26 - Sayı: 3, 251–253. https://ajindex.com/articles/409387
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