UNASSIGNED：
UNASSIGNED：遗传性血小板减少症（ITs）是一种罕见的先天性出血性疾病，其临床表现不同，预后不同。临床医生对ITs知之甚少，经常误诊为最常见的血小板减少症。
UNASSIGNED：“患有遗传性血小板疾病监测的儿童”研究（CHIPS）是一项回顾性-前瞻性观察性队列研究，于2003年1月至2022年1月在意大利小儿血液学和肿瘤学协会（AIEOP）下属的17个中心进行。这项研究的主要目的是收集意大利儿童遗传性血小板减少症患者的临床和实验室数据。次要目标是计算意大利儿科人群中IT的患病率，并评估我们研究队列中不同类型突变的频率和基因型-表型相关性。
未经评估：共有139名儿童，ITs（82名男性-57名女性）入组。意大利的ITs患病率从2010年的每100,000名儿童中0.7人到2022年的每100,000名儿童中2人不等。血小板减少症发作与诊断ITs之间的中位时间为1年（范围0-18年）。据报道，有90例患者（65％）有血小板减少症家族史。在139名患有ITs的儿童中，在73名（53％）儿童中，几乎发现了一种缺陷基因。在61名患者中已鉴定出致病性突变。其中,2例患者还携带不确定意义（VUS）的变体，和其他4个有2个VUS变体。在另外8名患者（6％）中发现了VUS变异，其中4个带有一个以上的变体VUS。3名患者（2％）具有可能的致病性变异，而在1名患者（1％）中鉴定出变异，该变异最初具有不确定的意义，但后来被分类为良性。此外,在17名患者中，基因诊断不可用，但是他们的家族史和临床/实验室特征强烈表明存在特定的遗传原因。在49名儿童（35％）中，未发现遗传缺陷。在97名患者(70%)中，血小板减少症与其他临床上明显的疾病无关.然而,42名儿童（30％）有一个或多个额外的临床改变。
UNASSIGNED：我们的研究提供了意大利儿童人群中IT的描述性集合。
UNASSIGNED: UNASSIGNED: Inherited thrombocytopenias (ITs) are rare congenital bleeding disorders characterized by different clinical expression and variable prognosis. ITs are poorly known by clinicians and often misdiagnosed with most common forms of thrombocytopenia.
UNASSIGNED: \"CHildren with Inherited Platelet disorders Surveillance\"
study (CHIPS) is a retrospective - prospective observational cohort
study conducted between January 2003 and January 2022 in 17 centers affiliated to the Italian Association of Pediatric Hematology and Oncology (AIEOP). The primary objective of this
study was to collect clinical and laboratory data on Italian pediatric patients with inherited thrombocytopenias. Secondary objectives were to calculate prevalence of ITs in Italian pediatric population and to assess frequency and genotype-phenotype correlation of different types of mutations in our
study cohort.
UNASSIGNED: A total of 139 children, with ITs (82 male - 57 female) were enrolled. ITs prevalence in Italy ranged from 0.7 per 100,000 children during 2010 to 2 per 100,000 children during 2022. The median time between the onset of thrombocytopenia and the diagnosis of ITs was 1 years (range 0 - 18 years). A family history of thrombocytopenia has been reported in 90 patients (65%). Among 139 children with ITs, in 73 (53%) children almost one defective gene has been identified. In 61 patients a pathogenic mutation has been identified. Among them, 2 patients also carry a variant of uncertain significance (VUS), and 4 others harbour 2 VUS variants. VUS variants were identified in further 8 patients (6%), 4 of which carry more than one variant VUS. Three patients (2%) had a likely pathogenic variant while in 1 patient (1%) a variant was identified that was initially given an uncertain significance but was later classified as benign. In addition, in 17 patients the genetic diagnosis is not available, but their family history and clinical/laboratory features strongly suggest the presence of a specific genetic cause. In 49 children (35%) no genetic defect were identified. In ninetyseven patients (70%), thrombocytopenia was not associated with other clinically apparent disorders. However, 42 children (30%) had one or more additional clinical alterations.
UNASSIGNED: Our
study provides a descriptive collection of ITs in the pediatric Italian population.
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