Valentín Moreno Carbonell , Esther Hernández Frutos , María José Bartolomé Albístegui , Israel Arribas Montero , Florentino Barbadillo Izquierdo , María Luisa Bartolomé Cano
{"title":"Agranulocitosis en niña de 6 años. ¿Qué hay detrás?","authors":"Valentín Moreno Carbonell , Esther Hernández Frutos , María José Bartolomé Albístegui , Israel Arribas Montero , Florentino Barbadillo Izquierdo , María Luisa Bartolomé Cano","doi":"10.1016/j.labcli.2017.11.003","DOIUrl":null,"url":null,"abstract":"<div><p>Kabuki syndrome (KS) is a rare genetic disease that usually involves significant cardiac and immunological disorders. Most patients are diagnosed in the first years of life, despite the fact that the age of onset is not well-defined. Affected patients have recurrent infections due to their immunosuppression, and may reach a state of agranulocytosis. Although their prognosis is quite favourable, their life expectancy is determined by these types of complications. Therefore, to understand its particular analytical characteristics is interesting from the point of view of the Haematology Laboratory to contribute to their diagnosis and follow-up. The case is presented of a patient diagnosed with KS.</p></div>","PeriodicalId":101105,"journal":{"name":"Revista del Laboratorio Clínico","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.labcli.2017.11.003","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista del Laboratorio Clínico","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1888400817301216","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Kabuki syndrome (KS) is a rare genetic disease that usually involves significant cardiac and immunological disorders. Most patients are diagnosed in the first years of life, despite the fact that the age of onset is not well-defined. Affected patients have recurrent infections due to their immunosuppression, and may reach a state of agranulocytosis. Although their prognosis is quite favourable, their life expectancy is determined by these types of complications. Therefore, to understand its particular analytical characteristics is interesting from the point of view of the Haematology Laboratory to contribute to their diagnosis and follow-up. The case is presented of a patient diagnosed with KS.
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