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Autoimmune haematological disorders in two Italian children with Kabuki syndrome.

Authors
  • Giordano, Paola
  • Lassandro, Giuseppe
  • Sangerardi, Maria
  • Faienza, Maria Felicia
  • Valente, Federica
  • Martire, Baldassarre
Type
Published Article
Journal
Italian Journal of Pediatrics
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Jan 01, 2014
Volume
40
Pages
10–10
Identifiers
DOI: 10.1186/1824-7288-40-10
PMID: 24460868
Source
Medline
License
Unknown

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.

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