PDF(Pubmed)
Abstract：
Leukocyte adhesion deficiency-III (LAD-III) is a rare recessive autosomal disorder characterized by bleeding syndrome of Glanzmann-type and life-threatening infections. The main etiology of this condition is variations in the FERMT3 gene, which encodes kindlin-3, an integrin-binding protein. This protein is responsible for the activation of fibrinogen receptors and integrin-mediated hematopoietic cell adhesion. So far, only limited cases of LAD-III have been reported. This case report discusses a two-year-old male infant from the Asir region, Saudi Arabia, who was referred to the pediatric hematology service due to recurrent ecchymosis and epistaxis. He was born at full term with a history of transient tachypnea of the newborn and recurrent bronchiolitis. The patient exhibited normal platelet count and coagulation profiles alongside a familial history of bleeding disorders, including a cousin with a similar condition. The patient also presented with hypospadias and café-au-lait spots. Laboratory findings revealed anemia, microcytosis, and hypochromia indicative of iron deficiency anemia. Whole exome sequencing (WES) identified a homozygous variant of uncertain significance in the FERMT3 gene, associated with autosomal recessive LAD-III. The patient was subsequently referred to an immunology subspecialty for further investigation and bone marrow transplant preparation. This case underscores the importance of comprehensive clinical and genetic evaluations in pediatric patients with unexplained bleeding tendencies.
摘要：
白细胞粘附缺陷-III（LAD-III）是一种罕见的隐性常染色体疾病，其特征是Glanzmann型出血综合征和危及生命的感染。这种情况的主要病因是FERMT3基因的变异，它编码kindlin-3，一种整合素结合蛋白。该蛋白质负责纤维蛋白原受体的活化和整联蛋白介导的造血细胞粘附。到目前为止,仅报道了有限的LAD-III病例.本病例报告讨论了一名来自Asir地区的两岁男婴，沙特阿拉伯,他因复发性瘀斑和鼻出血而被转诊至儿科血液科。他足月出生，有新生儿短暂呼吸急促和反复发作的细支气管炎史。患者表现出正常的血小板计数和凝血特征以及出血性疾病的家族病史。包括一个有类似情况的表弟.该患者还出现尿道下裂和咖啡色斑点。实验室发现显示贫血,微胞嘧啶,和低铬表明缺铁性贫血。全外显子组测序（WES）鉴定了FERMT3基因中不确定意义的纯合变体，与常染色体隐性LAD-III相关。随后将患者转诊到免疫学亚专科进行进一步研究和骨髓移植准备。此病例强调了对无法解释的出血倾向的儿科患者进行全面临床和遗传评估的重要性。
