遗传性血小板疾病 (IPD) 代表一组异质性疾病，包括定量（血小板减少症或血小板增多症）和定性（血小板病）缺陷。为了更好地了解特定疾病的患病率、发病机制和临床后果，改善 IPD 患者的诊断和治疗，并支持遗传、分子和生理学基础上的转化研究，THROMKIDplus 研究小组目前由 24 个地点组成德国、奥地利和瑞士决定建立一个患者登记处以及相关的儿童生物材料库。该登记被设计为一项回顾性、前瞻性、多中心观察性研究，预计于 2023 年下半年启动。患者的血涂片、血浆、血小板颗粒和 DNA 将存储在经过认证的生物材料库中，用于未来的转化研究项目。主要纳入标准是 (1) 经过 THROMKIDplus 能力中心评估后诊断为或高度怀疑 IPD 和 (2) 年龄为 0 至 17 岁的患者。根据良好的临床实践和当前的数据保护法案，使用 MARVIN 平台收集有关患者病史、实验室参数、出血倾向标准化记录和先天性缺陷的初始和后续数据，MARVIN 平台是德国支持的广泛使用的数据管理系统。儿科肿瘤血液学协会 (GPOH)。 THROMKIDplus 研究小组打算回顾性招募约 200 名患者，每年前瞻性招募约 50 名患者。Thieme。版权所有。

Inherited platelet disorders (IPDs) represent a heterogeneous group of disorders that include both quantitative (thrombocytopenia or thrombocytosis) and qualitative (thrombocytopathy) defects. To gain better knowledge about the prevalence, pathogenesis, and clinical consequences of specific diseases, to improve diagnosis and treatment of patients with IPD, and to support translational research on a genetic, molecular, and physiological basis, the THROMKIDplus study group currently comprising 24 sites in Germany, Austria, and Switzerland decided to establish a patient registry with associated biomaterial banking for children. This registry is designed as a retrospective-prospective, multicenter observational study and supposed to launch in the second half of 2023. Blood smears, plasma, platelet pellets, and DNA of patients will be stored in certified biomaterial banks for future translational research projects. The main inclusion criteria are (1) diagnosis of or highly suspected IPD after assessment of a THROMKIDplus competence center and (2) patients aged 0 to 17 years. Initial and follow-up data on patient history, laboratory parameters, standardized documentation of bleeding tendency, and congenital defects are collected according to good clinical practice and current data protection acts by using the MARVIN platform, a broadly used data management system supported by the German Society for Pediatric Oncology Hematology (GPOH). The THROMKIDplus study group intends to enroll ∼200 patients retrospectively and an annual amount of ∼50 patients prospectively.Thieme. All rights reserved.