Larrocha C, Fernández de Castro M, Fontan G, Viloria A, Fernández-Chacón J L, Jiménez C
Scand J Haematol. 1982 Nov;29(5):389-97. doi: 10.1111/j.1600-0609.1982.tb00613.x.
12 cases of hereditary myeloperoxidase (MPO) deficiency are reported. Histochemical stainings, lysosomal enzyme determinations, electron microscopic study of MPO and granulocytic function were performed. Family studies on 2 generations were carried out in 5 patients and histochemical stainings and biochemical lysosomal enzyme determinations were done. MPO deficiency was found to follow autosomal recessive inheritance and only rarely to have clinical effects.
报告了12例遗传性髓过氧化物酶(MPO)缺乏症病例。进行了组织化学染色、溶酶体酶测定、MPO的电子显微镜研究以及粒细胞功能研究。对5例患者进行了两代人的家系研究,并进行了组织化学染色和生化溶酶体酶测定。发现MPO缺乏症遵循常染色体隐性遗传,且很少产生临床影响。