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[α1-Antitrypsin deficiency].

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    This summary is machine-generated.

    Alpha-1 antitrypsin deficiency (AATD) is a genetic risk factor for COPD. This review covers AATD diagnosis and treatment in Japan, noting its low prevalence and common PI*S(iiyama) mutation.

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    Area of Science:

    • Pulmonology
    • Genetics
    • Epidemiology

    Background:

    • Alpha-1 antitrypsin deficiency (AATD) is the most frequent genetic risk factor for chronic obstructive pulmonary disease (COPD).
    • In Japan, AATD is recognized as an intractable disease ('Nanbyo') and exhibits a lower prevalence compared to Caucasian populations.
    • A recent survey estimated the prevalence of AATD in Japan to be 24 individuals.

    Purpose of the Study:

    • To review the current diagnostic approaches for AATD in Japan.
    • To discuss available and anticipated treatments for AATD.
    • To highlight the epidemiological characteristics of AATD in the Japanese population.

    Main Methods:

    • Literature review of AATD diagnosis and treatment.
    • Analysis of epidemiological data specific to Japan.
    • Comparison of genetic mutations prevalent in Japan versus Caucasian populations.

    Main Results:

    • The PI*S(iiyama) mutation is common in Japanese AATD patients, contrasting with the PI*Z mutation prevalent in Caucasians.
    • The estimated prevalence of AATD in Japan is significantly lower than in Western countries.
    • AAT augmentation therapy is anticipated to become available in Japan.

    Conclusions:

    • AATD diagnosis and management in Japan require tailored approaches considering local epidemiology and common mutations.
    • Understanding the genetic variations like PI*S(iiyama) is crucial for accurate diagnosis and effective treatment strategies.
    • The expected availability of AAT augmentation therapy offers new hope for managing AATD in Japan.