Autoimmune haematological disorders in two Italian children with Kabuki syndrome.

TitleAutoimmune haematological disorders in two Italian children with Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2014
AuthorsGiordano P, Lassandro G, Sangerardi M, Faienza MF, Valente F, Martire B
JournalItal J Pediatr
Volume40
Pagination10
Date Published2014
ISSN1824-7288
Abstract

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.

DOI10.1186/1824-7288-40-10
Alternate JournalItal J Pediatr
Citation Key1422
PubMed ID24460868