Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia - Q0gaia allele

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• 作者：M.J. Oliveira^a ; ^{maria.joaooliveira@chvng.min-saude.pt" class="auth_mail" title="E-mail the corresponding author} ; S. Seixas^b ; ^c ; I. Ladeira^a ; R. Monteiro^a ; T. Shiang^a ; M. Guimarã ; es^a ; R. Lima^a
• 关键词：Alpha-1 antitrypsin deficiency ; Null allele ; COPD
• 刊名：Revista Portuguesa de Pneumologia (English Edition)
• 出版年：2015
• 出版时间：November-December 2015
• 年：2015
• 卷：21
• 期：6
• 页码：341-343

文摘

Severe alpha-1 antitrypsin deficiency (AATD) is generally associated with PI*ZZ genotype and less often with combinations of PI*Z, PI*S, and other rarer deficiency or null (Q0) alleles. Severe AATD predisposes patients to various diseases, including pulmonary emphysema. Presented here is a case report of a young man with COPD and AATD. The investigation of the AATD showed a novel mutation p.Leu263Pro (c.860T>C), which was named Q0gaia (Pi*ZQ0gaia). Q0gaia is associated with very low or no detectable serum concentrations of AAT.