儿童散发性MYH9相关疾病1例报告  

Sporadic MYH9 related diseases in children:a case report

作　　者：张丽宁 孙蕾 匡新宇 王平 康郁林[1] 吴滢[1] 黄文彦 ZHANG Lining;SUN Lei;KUANG Xinyu;WANG Ping;KANG Yulin;WU Ying;HUANG Wenyan(Department of Nephrology and Rheumatology,Shanghai Children’s Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai,200333,China)

机构地区：[1]上海市儿童医院,上海交通大学医学院附属儿童医院肾脏风湿科,上海200333

出　　处：《临床儿科杂志》2022年第8期623-626,共4页Journal of Clinical Pediatrics

摘　　要：非肌性肌球蛋白重链9相关疾病(MYH9-RD)是遗传性血小板减少症的病因之一,常伴有肾脏损害、感觉神经性耳聋、白内障等血液系统以外的表现。患儿,女,13岁,血小板减少12年余,血尿、蛋白尿4年余。外周血涂片镜检存在血小板数量下降(10~30)×10^(9)/L,血小板体积增大。尿常规示蛋白+++,红细胞(15~17)/HP,24小时尿蛋白定量4.34 g[相当于76 mg/(kg·d)]。纯音阈测定提示高频听力受损,眼科检查提示存在早发性白内障。基因检测证实患儿存在MYH9基因c.2104C>T(p.R702C)位点杂合突变,为已见文献报道的致病性变异,家系验证患儿父母、哥哥均为野生型。明确诊断为MYH9-RD。先后予缬沙坦、环孢素治疗,患儿肾脏损害持续性进展,并进展至CKD2期。白内障及听力损害亦进行性加重。对于难治性血小板减少的患儿需警惕MYH9-RD可能,基因检测有助于早期明确断。Nonmuscle myosin heavy chain 9 related diseases(MYH9-RD)are part of the causes of hereditary thrombocytopenia,and are often accompanied by renal injury,sensorineural deafness,cataract and other manifestations other than blood system.The patient was a 13-year-old girl with thrombocytopenia for more than 12 years and hematuria and proteinuria for more than 4 years.Peripheral blood smear microscopy showed a decrease in platelet count[(10-30)×10^(9)/L]and an increase in platelet volume.Urine routine examination showed protein(+++)and erythrocyte(15-17/HP).The 24-hour urine protein quantification was 4.34 g[equivalent to 76 mg/(kg·d)].Pure tone threshold measurement suggested high-frequency hearing impairment,and ophthalmic examination showed early-onset cataract.Genetic testing confirmed that the child had a heterozygous variation at c.2104c>t(p.r702c)of MYH9 gene,which was a reported pathogenic variation.Pedigree verification indicated that both parents and elder brother were wild type.MYH9-RD was subsequently diagnosed.Although the child was treated with valsartan and cyclosporine successively,renal damage continued to progress and entered to CKD2 stage.Cataract and hearing impairment were also worsened.For children with refractory thrombocytopenia,it is necessary to be alerted to the possibility of MYH9-RD,and genetic testing is helpful for early diagnosis.

关 键 词：非肌性肌球蛋白重链9相关疾病 MYH 9基因 儿童 

分 类 号：R725.9[医药卫生—儿科]