Alpha-1 antitrypsin deficiency with severe pulmonary emphysema.
نویسندگان
چکیده
Alpha-1 antitrypsin (AAT) deficiency is a hereditary disorder characterized by an early onset of emphysema. While this disease is common in the Caucasian population, it is quite rare in Japan. To date, only 15 traits have been reported and it can be speculated that many cases of this genetic deficiency may have been overlooked. We report an additional case of AAT deficiency with severe emphysema that is genetically determined as S(iiyama) variant by allele-specific polymerase chain reaction (PCR) analysis.
منابع مشابه
Survival of patients with severe alpha 1-antitrypsin deficiency with special reference to non-index cases.
BACKGROUND Previous estimates of the survival times of patients with alpha 1-antitrypsin deficiency have been based on selected patients. METHODS The survival times of 397 patients with severe alpha 1-antitrypsin deficiency identified by pulmonary impairment (index cases) or through family studies (non-index cases) were compared. RESULTS The overall median survival time was 54.5 years with ...
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عنوان ژورنال:
- Internal medicine
دوره 43 3 شماره
صفحات -
تاریخ انتشار 2004