Academic Journal
Phenotypic polymorphism in Wiskott-Aldrich syndrome in children
| العنوان: | Phenotypic polymorphism in Wiskott-Aldrich syndrome in children |
|---|---|
| المؤلفون: | Cebotari, C., Băluțel, T., Popovici, E., Попович, Е., Tomacinschi, C., Palega, D., Şciuca, S.S., Щука, С. |
| المصدر: | Cercetarea în biomedicină și sănătate: calitate, excelență și performanță |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Wiskott-Aldrichsyndrome, thrombocytopenia, dermatitis, sindrom Wiskott-Aldrich, trombocitopenie, dermatită |
| الوصف: | Background. Wiskott-Aldrich syndrome is a rare, X-linked recisive pathology characterized by the triad: thrombocytopenia, dermatitis and recurrent infections. Lung damage in this syndrome evolves with risks of recurrences, pleuro-pulmonary complications, caused by polyresistive infections. Objective of the study. Clinical case presentation of a child diagnosed with Wiskott-Aldrich syndrome, due to the classic symptoms with hemorrhagic manifestations, thrombocytopenia, dermatitis and severe respiratory disorders. Material and Methods. The patient was investigated by hemoleukogram, serological tests with evaluation of congenital and atypical infections, immunological tests IgE, IgA, IgM, IgG, bacteriological tests of the nasopharynx, computed tomography of the lung, genetic investigations. Results. A 5-year-old child on the objective examination shows hemorrhagic rashes and eczema on the face, arms and elbows. The hemoleukogram in different periods of age shows a low number of platelets. Immunological investigations reveal elevated concentrations of total IgE. IgA, IgG, IgM were reduced. Bacteriological examination of the nasopharynx determines the presence of polyresistant flora: Staphylococcus aureus, Streptococcus ß-haemolyticus, Klebsiella pneumonia. Pneumocystis carini jiroveci was identified by microscopic examination. Genetic investigations by the direct sequencing method determined the mutation c.274-2A G in intron 2, of the WASP gene. Conclusion. Early diagnosis, careful clinical-paraclinical evaluation leads to a low rate of bronchopulmonary recurrences and infectious complications and a longer life expectan ; Introducere. Sindromul Wiskott-Aldrich este o patologie rară, X-linkată recisivă, caracterizată prin triada trombocitopenie, dermatită și infecții recurente. Afectarea pulmonară în acest sindrom evoluează cu riscuri de recurențe, complicații pleuro-pulmonare, cauzate de infecții polirezistente. Scopul lucrării. Prezentarea unui caz clinic al unui copil diagnosticat cu sindromul Wiskott-Aldrich, ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | https://ibn.idsi.md/vizualizare_articol/144866 |
| الاتاحة: | https://ibn.idsi.md/vizualizare_articol/144866 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.EF89B246 |
| قاعدة البيانات: | BASE |
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