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Article

Treatment of immune thrombocytopenia with hetrombopag olamine tablets in a Kabuki syndrome patient with new KMT2D mutations.

Platelets - 1 Dec 2023

Peng Peng, Pan Ying, Lu Xueqing, Xu Hui, Zhou Ziwei, He Yuanqing, Wang Huiru, Zheng Changcheng, Zhou Li

Abstract excerpt

Kabuki syndrome (KS) is a rare multisystem-affecting genetic disorder, and usually accompanied with autoimmune disorders such as immune thrombocytopenic purpura (ITP). Here, we report a 16-year-old patient with Kabuki syndrome with ITP and observe the therapeutic effect of TPO agonist hetrombopag olamine tablets. The duration of maintenance therapy and follow up were both 17 months. Whole exon sequencing (WES) of...

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Identifiers

PMID: 37620992
DOI: 10.1080/09537104.2023.2249562

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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