CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROME
| Autor: | Belykh Natalia Anatolievna, Glotova Inna Aleksandrovna, Deeva Yuliya Vitalievna, Piznyur Inna Vladimirovna |
|---|---|
| Jazyk: | English<br />Russian |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Паёми Сино, Vol 26, Iss 4, Pp 700-709 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2074-0581 2959-6327 |
| DOI: | 10.25005/2074-0581-2024-26-4-700-709 |
| Popis: | Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disorder characterized by a triad of symptoms: immunodeficiency, thrombocytopenia, and eczema. It arises from a mutation in the gene encoding the WAS protein (WASp). The disease can present with varying degrees of severity, ranging from classic WAS, which features a severe phenotype, to milder forms, such as X-linked thrombocytopenia and X-linked neutropenia. WAS primarily affects boys, although it can occur in isolated cases in girls, and it does not show any significant ethnic or geographic predisposition. This article discusses a clinical case of WAS identified in two siblings from the same family. In this study, we analyzed primary medical documentation and conducted a literature review. The syndrome is relevant for healthcare providers across various specialties, as it requires a comprehensive approach to diagnosis and ongoing monitoring. Medical genetic diagnostics play a crucial role in the diagnosis, while treatment may involve hematopoietic stem cell transplantation from a compatible donor. Additionally, this condition can be detected prenatally through appropriate medical consultation for the family. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|