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Autoimmune haematological disorders in two Italian children with Kabuki Syndrome

Kabuki syndrome (also called Niikawa-Kuroki syndrome) is a rare genetic disease described for the first time in Japan, characterised by anomalies in multiple organ systems and often associated with autoimmune disorders and impaired immune response. We herein report the clinical history, the therapeu...

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Detalles Bibliográficos
Autores principales: Giordano, Paola, Lassandro, Giuseppe, Sangerardi, Maria, Faienza, Maria Felicia, Valente, Federica, Martire, Baldassarre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917534/
https://www.ncbi.nlm.nih.gov/pubmed/24460868
http://dx.doi.org/10.1186/1824-7288-40-10
Descripción
Sumario:Kabuki syndrome (also called Niikawa-Kuroki syndrome) is a rare genetic disease described for the first time in Japan, characterised by anomalies in multiple organ systems and often associated with autoimmune disorders and impaired immune response. We herein report the clinical history, the therapeutic approach and the outcome of two children with Kabuki syndrome who developed autoimmune haematological disorders (haemolytic anaemia and immune thrombocytopenia). Factors regarding differential diagnosis and interventions in better management of this syndrome and its complications are discussed. This is the first report of Italian children with autoimmune haematological disorders complicating Kabuki syndrome.