减肥手术治疗一例肌球蛋白重链9相关疾病(MYH9RD)

Sa-Hong Kim, Kyoyoung Park, Chungyoon Kim, Jeesun Kim, Seong-Ho Kong, Hyuk-Joon Lee, Han-Kwang Yang, Do-Joong Park
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引用次数: 0

摘要

肌球蛋白重链9相关疾病(MYH9RD)是一种罕见的常染色体显性遗传病,由MYH9突变引起,可导致大量血小板减少、肾并发症如局灶节段性肾小球硬化(FSGS)和其他全身性表现。我们报告一例28岁男性MYH9RD,体重指数超过47 kg/m2,成功行腹腔镜袖胃切除术。尽管存在大量血小板减少引起的出血倾向和FSGS引起的肾脏损害的挑战,但周密的术前评估和管理,包括血小板输注,使手术顺利进行,无并发症。患者体重显著减轻,从术前147.6 kg降至术后1年90.15 kg,高血压和代谢指标(包括天冬氨酸转氨酶/丙氨酸转氨酶、血红蛋白A1c、甘油三酯和低密度脂蛋白水平)均有所改善。虽然MYH9RD与病态肥胖没有直接关系,但该病例强调,全面的术前评估和风险管理可以为MYH9RD患者的减肥手术带来成功的结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Bariatric Surgery for a Patient With Myosin Heavy Chain 9-Related Disorders (MYH9RD): A Case Report.

Myosin heavy chain 9-related disorders (MYH9RD) are rare autosomal dominant genetic conditions caused by MYH9 mutations, leading to macrothrombocytopenia, renal complications such as focal segmental glomerulosclerosis (FSGS), and other systemic manifestations. We report a case of 28-year-old male with MYH9RD and body mass index exceeding 47 kg/m2, who successfully underwent laparoscopic sleeve gastrectomy. Despite challenges from bleeding tendency caused by macrothrombocytopenia and renal impairment caused by FSGS, thorough preoperative evaluation and management, including platelet transfusion, enabled surgery to proceed without complications. The patient achieved significant weight loss, from 147.6 kg preoperatively to 90.15 kg at 1 year postoperatively, with improvements in hypertension and metabolic parameters, including aspartate aminotransferase/alanine aminotransferase, hemoglobin A1c, triglycerides, and low-density lipoprotein levels. While MYH9RD is not directly associated with morbid obesity, this case highlights that comprehensive preoperative evaluation and risk management can lead to successful outcomes in bariatric surgery for MYH9RD patients.

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