title: [α1-Antitrypsin deficiency].
abstract: α1-Antitrypsin deficiency (AATD) is the commonest genetic risk factor for developing chronic obstructive pulmonary disease. In 2015, AATD has been categorized as one of intractable diseases called "Nanbyo" in Japan. The prevalence of AATD is extremely low in Japanese compared with Caucasians in North America and Europe. According to recent nationwide epidemiological survey, the prevalence of AATD in Japan was estimated to be 24 patients with a 95% confidence interval. The mutation PI*S(iiyama) is commonly found in the Japanese patients with AATD, whereas PI*Z is the most frequent mutation associated with severe deficiency in Caucasians. The availability of AAT augmentation therapy in Japan is expected. This paper reviews the diagnosis and treatment in AATD.
authors.forename: Toyohiro
authors.initials: T
authors.lastname: Hirai
mesh_terms: D044466:Asian People; D006801:Humans; D007564:Japan / Q000453:epidemiology; D009154:Mutation; D015995:Prevalence; D029424:Pulmonary Disease, Chronic Obstructive / Q000209:etiology*; D012307:Risk Factors; D012720:Severity of Illness Index; D044465:White People; D000515:alpha 1-Antitrypsin / Q000008:administration & dosage / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D000515:alpha 1-Antitrypsin