Reynolds Lianna, Williams Benjamin, Gurumurthy Gerard, Grainger John
Royal Manchester Children's Hospital, Manchester, UK.
Greater Manchester Mental Health, Manchester, UK.
Orphanet J Rare Dis. 2025 May 26;20(1):249. doi: 10.1186/s13023-025-03743-y.
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.
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.
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.
本研究旨在比较英国儿科免疫性血小板减少症（ITP）登记处中，患有歌舞伎综合征（KS）的儿童与散发性ITP儿童的ITP临床表现。Margot等人对一个歌舞伎综合征数据库的分析发现，患有KS的儿童慢性ITP和其他血液学异常的发生率更高。本研究旨在利用2006年1月至2020年2月期间英国儿科ITP登记处的数据，确定与散发性ITP人群相比，患有KS的儿童是否确实表现出这些特征。
在2013例ITP患者中，5例确诊为KS，患病率为0.25%（95%CI=0.031-0.47%）。KS中ITP的相对患病率估计为79（95%CI=10-149，p<0.0001）。KS儿童和非KS儿童的临床表现相似，出血严重程度和血小板计数无显著差异。1例KS患者表现为慢性ITP，另1例表现出并非完全由血小板减少引起的症状。
我们的研究结果表明，患有KS的儿童ITP的临床表现和病程与一般ITP患者相当。尽管KS中ITP的风险升高，但该病的表现并无显著差异。
