## To the Editor: Chronic granulomatous disease (CGD) is a rare genetic disorder of phagocyte oxidative metabolism. In addition to infectious complications, granulomatous lesions can involve the gastrointestinal (GI) tract and can mimic ulcerative colitis or Crohn's disease. 1,2 Crohn's-like manife
Prenatal diagnosis of chronic granulomatous disease
โ Scribed by Matthay, Katherine K. ;Golbus, Mitchell S. ;Wara, Diane W. ;Mentzer, William C. ;Karp, Laurence E.
- Publisher
- John Wiley and Sons
- Year
- 1984
- Tongue
- English
- Weight
- 515 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0148-7299
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โฆ Synopsis
A luminol enhanced chemiluminescence micromethod has been adapted for use in prenatal diagnosis of chronic granulomatous disease (CGD). After validation of the assay in normal adults, newborns, fetuses, CGD carriers, and CGD patients, the fetuses of two pregnant CGD carriers were tested after fetoscopic aspiration of fetal blood. Normal neutrophil chemiluminescence and nitroblue tetrazolium slide tests were followed by delivery of two healthy infants whose normality was confirmed. Amniocytes proved useless for the prenatal diagnosis of CGD. They were found to have negligible nitroblue tetrazolium reduction, oxygen metabolism, and oxygen dependence.
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The molecular and biochemical characterization of many components of the phagocyte oxidase complex that generates superoxide have greatly advanced our understanding of this important pathway. Genetic defects in one or more of the components of this host defense system result in the chronic granuloma
Chronic granulomatous disease (CGD) is a clinical syndrome, the unifying characteristics of which are a severe predisposition to bacterial and fungal infections, an impaired ability of phagocytic leukocytes to kill certain microorganisms and the failure of these cells to produce microbicidal oxygen