ArticleOrphanet journal of rare diseases2025
Immune thrombocytopenia in Kabuki syndrome, a comparison with non-Kabuki cases in the UK paediatric ITP registry.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundThis study aims to compare the clinical presentation of Immune Thrombocytopenia (ITP) in children with Kabuki syndrome (KS) to those with sporadic ITP in the UK Paediatric ITP Registry. The Margot et al. analysis of a Kabuki database identified that children with KS had higher rates of chronic ITP and of other haematological abnormalities. This study aims to identify if children with KS do exhibit these features compared to the sporadic ITP population using data from the UK Paediatric ITP Registry between January 2006 and February 2020.
resultsOf 2013 ITP patients, five had a confirmed diagnosis of KS, representing a 0.25% prevalence (95% CI = 0.031 - 0.47%). The relative prevalence of ITP in KS was estimated at 79 (95% CI = 10-149, p < 0.0001). Clinical presentations were similar between KS and non-KS children, with non-significant differences in severity of bleeding and platelet counts. One KS patient exhibited chronic ITP and another presented with symptoms not exclusively attributable to thrombocytopenia.
conclusionsOur findings suggest that the clinical presentation and course of ITP in children with KS are comparable to those of general ITP patients. Despite the elevated risk of ITP in KS, the manifestations of the condition do not differ significantly.
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