Department of Pediatric Nephrology, Tokyo Women's Medical University, 8-1, Kawada-Cho, Shinjuku-Ku, Tokyo, 162-8666, Japan.
Department of Nephrology and Rheumatology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Clin Exp Nephrol. 2024 Jan;28(1):40-49. doi: 10.1007/s10157-023-02404-3. Epub 2023 Sep 21.
MYH9-related disease (MYH9-RD) is characterized by congenital macrothrombocytopenia, Döhle body-like granulocyte inclusions, and nephropathy, which may progress to end-stage kidney disease (ESKD). However, information on the effects of renin-angiotensin system (RAS) inhibitors on kidney survival is currently lacking and the outcomes of kidney replacement therapy (KRT) in MYH9-RD are largely unknown.
We conducted a cross-sectional nationwide survey by sending questionnaires to 145 institutions in Japan and analyzed data for 49 patients.
The median patient age was 27 years. Genetic analysis was performed in 37 (76%) patients. Twenty-four patients (65%) had MYH9 variants affecting the motor domain of non-muscle myosin heavy chain-IIA, and these patients had poorer kidney survival than those with variants affecting the tail domain (P = 0.02). There was no significant difference in kidney survival between patients treated with and without RAS inhibitors. Hemodialysis and peritoneal dialysis were performed in 16 and 7 patients, respectively. There were no major bleeding complications during the perioperative period or during follow-up, except for one patient. Most of the 11 patients who underwent kidney transplantation required perioperative red cell concentrate transfusions, but there was no graft loss during the median posttransplant observational period of 2.0 (interquartile range, 1.3-6.8) years.
Our study demonstrated no beneficial effect of RAS inhibitors on kidney function in patients with MYH9-RD, indicating the need for further studies with more patients. All modalities of KRT are feasible options for MYH9-RD patients who progress to ESKD, with adequate attention to bleeding complications.
肌球蛋白重链 9 相关疾病（MYH9-RD）的特征是先天性巨血小板减少症、Döhle 体样嗜中性粒细胞包涵体和肾病，可能进展为终末期肾病（ESKD）。然而，目前缺乏关于肾素-血管紧张素系统（RAS）抑制剂对肾脏生存的影响的信息，并且 MYH9-RD 患者的肾脏替代治疗（KRT）结果在很大程度上尚不清楚。
我们通过向日本 145 个机构发送问卷进行了一项横断面全国性调查，并对 49 名患者的数据进行了分析。
中位患者年龄为 27 岁。对 37 名（76%）患者进行了基因分析。24 名（65%）患者的 MYH9 变体影响非肌肉肌球蛋白重链-IIA 的运动结构域，这些患者的肾脏生存状况比影响尾部结构域的患者差（P=0.02）。接受和未接受 RAS 抑制剂治疗的患者的肾脏生存无显著差异。16 名患者接受血液透析，7 名患者接受腹膜透析。除 1 名患者外，围手术期或随访期间无重大出血并发症。11 名接受肾移植的患者中，大多数需要围手术期红细胞浓缩剂输血，但在中位 2.0 年（四分位距，1.3-6.8）的移植后观察期内无移植物丢失。
我们的研究表明，RAS 抑制剂对 MYH9-RD 患者的肾功能没有有益影响，表明需要更多患者的进一步研究。对于进展为 ESKD 的 MYH9-RD 患者，所有 KRT 方式都是可行的选择，但需要充分注意出血并发症。
