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

Platelets. 2023 Dec;34(1):2249562. doi: 10.1080/09537104.2023.2249562.ABSTRACTKabuki 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 the patient's peripheral blood showed c.5775_5778del (p. Leu1926LysfsTer120) heterozygous mutation in the KMT2D gene, which was not reported before.PMID:37620992 | DOI:10.1080/09537104.2023.2249562

Source: Platelets - August 24, 2023 Category: Hematology Authors: Peng Peng Ying Pan Xueqing Lu Hui Xu Ziwei Zhou Yuanqing He Huiru Wang Changcheng Zheng Li Zhou Source Type: research