Open AccessHeritable amegacariocytic thrombocytopenia: description of a clinical case
Author(s) -
V.М. Dudnyk,
V.H. Furman,
О. V. Kutsak,
O. I. Izyumets
Publication year - 2022
Publication title -
vìsnik vìnnicʹkogo nacìonalʹnogo medičnogo unìversitetu
Language(s) - English
Resource type - Journals
eISSN - 2522-9354
pISSN - 1817-7883
DOI - 10.31393/reports-vnmedical-2022-26(1)-04
Subject(s) - pancytopenia , medicine , differential diagnosis , disease , pediatrics , intensive care medicine , pathology , dermatology , bone marrow
Annotation. Features of the clinical course and differential diagnosis of hereditary thrombocytopenia, characterized by the development of pancytopenia in childhood, are described. It was found that the main manifestation of this pathology is hemorrhagic syndrome, accompanied by the presence of polymorphic, polychrome, asymmetric hemorrhagic rashes, frequent bleeding from the mucous membranes. The Mpl gene (1p34) was sequestered to confirm the diagnosis and establish the genomic mutation. Complex diagnosis of this disease requires a comprehensive and interdisciplinary approach involving a coordinated team of hematologists, geneticists, immunologists, neurosurgeons and ophthalmologists.