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Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12710/17882
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dc.contributor.authorTurcan, Doina
dc.contributor.authorAndrieș, Lucia
dc.contributor.authorDorif, Alexandr
dc.contributor.authorSacara, Victoria
dc.date.accessioned2021-06-17T17:07:09Z
dc.date.available2021-06-17T17:07:09Z
dc.date.issued2021
dc.identifier.issn2587-3466
dc.identifier.issn2587-3458
dc.identifier.urihttps://doi.org/10/38045/ohrm.2021.3.10
dc.identifier.urihttp://repository.usmf.md/handle/20.500.12710/17882
dc.identifier.urihttps://journal.ohrm.bba.md/index.php/journal-ohrm-bba-md/article/view/141/99
dc.descriptionInstitute of Mother and Child, Republic of Moldova, Nicolae Testemitanu State University of Medicine and Pharmacy, Republic of Moldovaen_US
dc.description.abstractIntroduction. Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene which encodes the WAS protein (WASp) – a key regulator of actin polymerization in hematopoietic cells. Mutations within the WASp gene result in a wide heterogeneity of clinical disease, ranging from ‘classical WAS’ to mild asymptomatic thrombocytopenia (X-linked thrombocytopenia [XLT]), or congenital neutropenia (X-lined neutropenia [XLN]). Case presentation. This present paper reports a phenotypical and laboratory description of two children diagnosed with WAS and one child diagnosed with XLT. The first case was a six months old male with septicemia, thrombocytopenia, eczema and petechial rash. The second case was a 2 years old boy presenting with complaints of recurrent infections, eczema and thrombocytopenia with small platelet size. The third case was a 16 years old boy who presented with thrombocytopenia and recurrent sinopulmonary infections. Conclusions. Due to a wide spectrum of clinical findings, the diagnosis of WAS/XLT should be considered in any male patient presenting with petechiae, bruises, and congenital or early-onset thrombocytopenia associated with small platelet size.en_US
dc.description.abstractIntroducere. Sindromul Wiskott-Aldrich este o afecțiune rară X-linkată, caracterizată prin microtrombocitopenie, eczeme și infecții recurente. Acesta este cauzat de mutații ale genei WAS, care codifică proteina WAS (WASp) - un regulator cheie al polimerizării actinei în celulele hematopoietice. Mutațiile din gena WASp generează o eterogenitate largă a bolii clinice, variind de la „WAS clasic” la trombocitopenie asimptomatică ușoară (trombocitopenie X-linkată [XLT]) sau la neutropenie congenitală (neutropenie X-linkată [XLN]). Prezentarea cazului. Este raportată descrierea, fenotipică și de laborator, a doi copii diagnosticați cu WAS și a unui copil diagnosticat cu XLT. În primul caz, un băiat în vârstă de șase luni, cu septicemie, trombocitopenie, eczemă și erupții de tip peteșii. În al doilea caz, un băiat de 2 ani, care a prezentat acuze de infecții recurente, eczemă și trombocitopenie, cu dimensiune mică a trombocitelor. Iar în al treilea caz, un băiat de 16 ani, care s-a adresat cu acuze de infecții sinopulmonare recurente și trombocitopenie. Concluzii. Datorită spectrului larg de manifestări clinice, diagnosticul WAS/XLT trebuie luat în considerare la orice pacient de sex masculin, care prezintă erupții de tip peteșii, echimoze și trombocitopenie congenitală sau cu debut precoce, asociată cu o dimensiune mică a trombocitelor.en_US
dc.language.isoenen_US
dc.publisherAsociația de Biosiguranță și Biosecuritate din Republica Moldovaen_US
dc.relation.ispartofOne Health & Risk Managementen_US
dc.subjectWiskott Aldrich syndromeen_US
dc.subjectXlinked thrombocytopeniaen_US
dc.subjectimmunodeficiencyen_US
dc.subject.ddcCZU: [616.155.294+612.017.1]-053.2:575.224en_US
dc.titleAnalysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopeniaen_US
dc.title.alternativeAnaliza caracteristicilor clinice și molecular-genetice ale sindromului Wiskott-Aldrich și trombocitopenia X-linkatăen_US
dc.typeArticleen_US
Appears in Collections:One Health & Risk Management Vol. 2 No 3, 2021

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