Type 2 Gaucher\'s disease in a Malian family
| Autor: | Guinto Cheick Oumar, Moussa Traoré, Jeannette Traoré, Toumani Sidibé, Mariam Sylla |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities education.field_of_study Pediatrics medicine.medical_specialty Gaucher Disease business.industry Transmission (medicine) Siblings beta-Glucosidase Population Black People General Medicine Disease medicine.disease West africa Black or African American Gaucher's disease Sambucus medicine Humans education business Biomedical sciences |
| Zdroj: | African Journal of Health Sciences; Vol 11, No 1 (2004); 67-69 |
| ISSN: | 1022-9272 |
| DOI: | 10.4314/ajhs.v11i1.30780 |
| Popis: | Gaucher's disease is a recessive autosomal disorder caused by an inherited deficiency of betaglucocerebrosidase. We report here the case of an 8 month old child, fourth in a family of four children, who presents the neuropathic form of the disease. The dosages of betaglucosidase activity using C14 techniques have confirmed the diagnosis, and allowed the detection of the disease in the elder brother. Both parents were considered as responsible for the transmission of this disease to their progeny. The type 2 Gaucher's disease is rare in black population, and may be associated with phenotypes heterogeneity. African Journal of Health Sciences Vol.11(1&2) 2004: 67-69 |
| Databáze: | OpenAIRE |
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