Department of Pediatric Nephrology, Tokyo Women's Medical University, 8-1, Kawada-cho, Shinjuku-ku, Tokyo, Japan.
Department of Pediatrics, Odawara Municipal Hospital, 46, Kuno, Odawara, Kanagawa, Japan.
CEN Case Rep. 2023 Nov;12(4):419-422. doi: 10.1007/s13730-023-00786-7. Epub 2023 Mar 31.
MYH9-related disease is an autosomal dominant disorder characterized by macrothrombocytopenia, nephropathy, inclusion bodies in leukocytes, sensorineural hearing loss, and cataract. Severe cases require kidney replacement therapy in the patient's second decade of life; thrombocytopenia constitutes a major risk factor for hemorrhagic complications during dialysis initiation or kidney transplantation. Prophylactic platelet transfusion prior to surgery is commonly administered to affected patients in these cases. However, transfusion in such patients has limitations other than the general risk of allergic reactions and blood-borne infections; it may also trigger alloimmunization, leading to platelet transfusion resistance or the development of anti-donor antibodies in potential kidney transplant recipients. Here, we describe prophylactic administration of eltrombopag, an oral thrombopoietin receptor agonist, prior to laparoscopic peritoneal dialysis catheter placement in a 15-year-old girl with MYH9-related disease. Her platelet count was approximately 30 × 10/μL at baseline; it increased to 61 × 10/μL on the day before surgery, thereby avoiding the need for platelet transfusions. There were no major bleeding or adverse events associated with eltrombopag administration. Thus, eltrombopag may be a safe and effective alternative to prophylactic platelet transfusions in patients with MYH9-related disease.
MYH9 相关疾病是一种常染色体显性遗传疾病，其特征为巨血小板减少症、肾病、白细胞包涵体、感觉神经性听力损失和白内障。严重病例需要在患者二十岁出头时进行肾脏替代治疗；血小板减少症是透析开始或肾移植期间出血并发症的主要危险因素。在这些情况下，通常会对受影响的患者进行预防性血小板输注。然而，除了过敏反应和血源感染的一般风险外，此类患者的输血还有其他限制；它也可能引发同种免疫，导致血小板输注抵抗或潜在肾移植受者产生抗供体抗体。在这里，我们描述了在一名 15 岁患有 MYH9 相关疾病的女孩中，在进行腹腔镜腹膜透析导管放置之前，预防性给予艾曲泊帕（一种口服血小板生成素受体激动剂）。她的血小板计数在基线时约为 30×10/μL；在手术前一天增加到 61×10/μL，从而避免了血小板输注的需要。艾曲泊帕给药无严重出血或不良反应。因此，艾曲泊帕可能是 MYH9 相关疾病患者预防性血小板输注的一种安全有效的替代方法。
