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[慢性肉芽肿病与麦克劳德表型。一例病例描述]

[Chronic granulomatous disease and McLeod phenotype. Description of a case].

作者信息

Saggese G, Baroncelli G I, Bertelloni S, Gualtieri M, Carlotti C, Cinquanta L

机构信息

Istituto di Clinica Pediatrica, Università degli Studi di Pisa.

出版信息

Minerva Pediatr. 1990 Apr;42(4):151-6.

PMID:2377152
Abstract

Chronic granulomatous disease (CGD) is a genetic syndrome, mostly inherited as an X-linked recessive trait, characterized by severe and recurrent infections due to defective neutrophil leukocytes and monocytes respiratory burst and microbicidal activity. Consequently, the affected patients are prone to infections by catalase-positive bacteria and fungi. The Authors describe a case of X-linked CGD with red cells of the rare McLeod phenotype. These red cells show acanthocytosis and are not reacting with anti-Kx antibody. Moreover, the Authors discussed the diagnosis and chemotherapy of CGD in addition to biochemical and clinical characterization of McLeod phenotype.

摘要

慢性肉芽肿病(CGD)是一种遗传综合征,大多呈X连锁隐性遗传,其特征是由于中性粒细胞和单核细胞呼吸爆发及杀菌活性缺陷而导致严重且反复的感染。因此,受影响的患者易感染过氧化氢酶阳性细菌和真菌。作者描述了一例伴有罕见麦克劳德(McLeod)表型红细胞的X连锁CGD病例。这些红细胞显示棘状红细胞增多,且不与抗Kx抗体发生反应。此外,作者除了讨论麦克劳德表型的生化和临床特征外,还探讨了CGD的诊断和化疗。

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