Immune thrombocytopenia in Kabuki syndrome, a comparison with non-Kabuki cases in the UK paediatric ITP registry

Immune thrombocytopenia in Kabuki syndrome, a comparison with non-Kabuki cases in the UK paediatric ITP registry

Abstract Background This 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 ra...

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Bibliographic Details
Main Authors: Lianna Reynolds, Benjamin Williams, Gerard Gurumurthy, John Grainger
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Kabuki
Thrombocytopenia
ITP
Genetics
Online Access:https://doi.org/10.1186/s13023-025-03743-y
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Summary:Abstract Background This 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. Results Of 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. Conclusions Our 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.
ISSN:1750-1172

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