肾病综合征合并Duchenne型肌营养不良症1例病例报告

【摘要】 目的 研究肾病综合征合并Duchenne型肌营养不良症患儿的临床特点，探讨肾病综合征与Duchenne型肌营养不良症的可能关系。方法 对2014年5月就诊于湖南省儿童医院肾内科的一例肾病综合征合并Duchenne型肌营养不良症患儿的临床特点、肾脏病理、基因诊断及对激素治疗的反应进行总结。结果 ①临床特点：6岁男孩，有1兄20岁，身体健康，家庭中两系3 代无类似疾病者。该患儿肾病综合征频繁复发，伴有谷草转氨酶、丙转氨酶、肌酸激酶、乳酸脱氢酶等肝酶及肌酶显著升高；肾脏病理为轻度系膜增生性肾小球肾炎。②遗传学检查：染色体核型分析无异常；dystrophy基因52号外显子缺失。结论 肾病综合征合并Duchenne型肌营养不良症患儿表现为难治性肾病，dystrophy基因52号外显子缺失与NS发病无直接联系，但有可能与NS频繁复发有关联，需要进一步研究。

Nephrotic syndrome in a child with Duchenne muscular dystrophy

Abstract Objective To study the clinical features in nephrotic syndrome with Duchenne muscular dystrophy, To explore the possible relationship between nephrotic syndrome and Duchenne muscular dystrophy. Methods The clinical features, renal pathology, gene diagnosis and the response to steroid of one NS patient combined with DMD were analyzed and smnmarized,who was hospitalized in Hunan Children’s Hospital in May 2014 . Results ① Clinical characteristics: The patient was a 10-year-old boy. There was no family history of similar diseases; his brother was 20 years old, healthy. The patient with nephrotic syndrome frequency relapse, accompanied by aspartate aminotransferase, alanine aminotransferase, creatine kinase, lactate dehydrogenase increased sharply; the renal pathology was mild mesangial proliferative glomerulonephritis. ②Genetic analysis: Duchenne -type Muscular Dystrophy with exon 52 of dystrophin gene deletion, Chromosome karyotype analysis was normal. Conclusion Nephrotic syndrome with Duchenne muscular dystrophy in this patient with refractory nephropathy, exon 52 of dystrophy gene deletion and the pathogenesis of NS has no direct contact, but it may be related to the frequent relapse of NS, which needs further study.