title: A case of familial pulmonary mycobacterium avium complex disease.
abstract: We report one Japanese familial line in which there were three pulmonary MAC patients and one suspected patient over two generations, most of whom were diagnosed with the nodular/bronchiectatic type. In all patients, life circumstances and bacterial strains differed at the time of diagnosis. This suggests that the genes thought to affect patient susceptibility to pulmonary MAC disease may be involved in this family line. Comprehensive genotypic analysis of the CFTR gene, HLA typing, and analysis of the NRAMP1 polymorphisms were performed in seven members of this family. The results suggest that female sex and menopause might be associated with onset of pulmonary MAC of the nodular/bronchiectatic type, and HLA-A26 antigen and diabetes mellitus might be involved in disease exacerbations.
authors.affiliation: Department of Respiratory Medicine, National Hospital Organization, Ibaraki-Higashi National Hospital. brwck573@yahoo.co.jp
authors.forename: Masashi
authors.initials: M
authors.lastname: Matsuyama
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Miura
authors.forename: Takumi
authors.initials: T
authors.lastname: Kiwamoto
authors.forename: Ataru
authors.initials: A
authors.lastname: Moriya
authors.forename: Nariaki
authors.initials: N
authors.lastname: Kokuho
authors.forename: Kei
authors.initials: K
authors.lastname: Shimizu
authors.forename: Shigeo
authors.initials: S
authors.lastname: Otsuka
authors.forename: Minako
authors.initials: M
authors.lastname: Hijikata
authors.forename: Naoto
authors.initials: N
authors.lastname: Keicho
authors.forename: Kenji
authors.initials: K
authors.lastname: Hayashihara
authors.forename: Takefumi
authors.initials: T
authors.lastname: Saito
mesh_terms: D000328:Adult; D000368:Aged; D027682:Cation Transport Proteins / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D015234:HLA-A Antigens / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D008593:Menopause; D008875:Middle Aged; D015270:Mycobacterium avium-intracellulare Infection / Q000235:genetics* / Q000276:immunology / Q000382:microbiology; D010375:Pedigree; D012307:Risk Factors; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D015234:HLA-A Antigens; D000099173:Natural Resistance-associated Macrophage Protein 1; C505032:CFTR protein, human; C039683:HLA-A*26 antigen