Multiple Leukocyte Abnormalities in Chronic Granulomatous Disease: A Familial Study
| Autor: | Rutenberg Wd, Doberstyn Eb, Mei C. Yang, Joseph A. Bellanti |
|---|---|
| Rok vydání: | 1977 |
| Předmět: |
Adult
Male Blood Bactericidal Activity Adolescent Period (gene) Dehydrogenase Glucosephosphate Dehydrogenase Biology Pentose phosphate pathway Reductase Granulomatous Disease Chronic Pathogenesis Chronic granulomatous disease Phagocytosis Leukocytes medicine Humans Family Child Aged chemistry.chemical_classification Glutathione Peroxidase Nitroblue Tetrazolium Glutathione peroxidase Middle Aged medicine.disease Pedigree Glutathione Reductase Enzyme chemistry Child Preschool Pediatrics Perinatology and Child Health Immunology Phagocyte Bactericidal Dysfunction Female NADP |
| Zdroj: | Pediatric Research. 11:158-163 |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-197703000-00002 |
| Popis: | Summary: A variety of leukocyte enzyme activities were studied in an 11-year-old female with chronic granulomatous disease (CGD) and several members of her family. Leukocyte glucose-6-phosphate dehydrogenase (G-6-PD) activity was 17 nmol/min/mg protein in the patient; two brothers with symptoms of recurrent bacterial infections have G-6-PD activities of 58 and 37 nmol/min/mg protein; the activites of this enzyme in both parents, maternal grandmother, and one additional brother were within normal limits. Storage at 4° or heating at 37° over a 120-min period revealed a marked lability of G-6-PD activity in the patient's cells which could not be stabilized by the addition of NADP and 2-mcrcaptoethanol; this lability was not seen in other family members tested. Activities of leukocyte glutathionc reductase were reduced in both parents and the two affected male siblings with values of 18, 23, 23, and 24 nmol/min/mg protein, respectively. Activities of leukocyte glutathione peroxidase were reduced in all of the immediate family members tested, with values ranging from 11.2 to 43 nmol/min/mg protein; the activity of this enzyme in the patient was 38.5. Leukocyte NADP content in the patient, father, and two affected male siblings were 16.5, 23.4, 22.2, and 28.2 nmol/15 min/107 leukocytes, respectively. Speculation: Chronic granulomatous disease represents a heterogenous collection of leukocyte enzymatic abnormalities which result in a clinical picture of recurrent bacterial infection. The final common pathway in the pathogenesis of the disorder derives from defective H2O2 production owing to a variety of enzymatic abnormalities within or linked to the hexose monophosphate shunt (HMP). The studies of the kindred in the present report lend further support for the central role of NADP as a controlling mechanism of normal leukocyte bactericidal function. |
| Databáze: | OpenAIRE |
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