西南地区小儿无腹泻溶血尿毒综合征39例临床分析

目的：探讨西南地区无腹泻溶血尿毒综合征（D-HUS）的临床特征、分子遗传学信息、治疗及转归情况。方法：回顾性分析西南地区39例D-HUS患儿的病历资料，统计包括人口学资料、临床表现、辅助检查、分子遗传学信息、治疗及随访等情况。补体基因检测采用二代测序及Sanger测序。根据统计结果分析HUS的发病和临床特征。结果：西南地区D-HUS患儿呈散发，发病季节以夏季为主，好发于学龄期儿童。临床表现以急性肾衰竭、溶血、出血为主，消化系统和神经系统症状为常见的肾外表现。确诊肺炎链球菌相关HUS 1例；5例行补体基因检测，3例阳性，分别为CFI基因突变、CFHR4基因突变及CFHR1/CFHR4基因片段疑似纯合缺失。急性期治疗以对症、抗感染、成分血输注及血液净化为主；12例行血浆置换，治疗前后血红蛋白、血小板、血肌酐、尿素氮、乳酸脱氢酶、总胆红素及间接胆红素水平差异有统计学意义（P<0.05）。随访19例，完全缓解14例，部分缓解2例，复发1例，慢性治疗1例，死亡1例。结论：不同病因D-HUS诊治方式及预后不尽相同，临床诊断HUS后尽早明确病因行针对性治疗，对改善急性期症状及远期预后有重要意义。

Clinical Analysis of 39 Children with Non-Diarrhea Hemolytic Uremic Syndrome in Southwest China

Objective: To probe into the clinical features, molecular genetic information, treatment, and outcomes of children with non-diarrhea hemolytic uremic syndrome (D-HUS) in southwest China. Methods: The medical records of 39 children with D-HUS in southwest China were retrospectively analyzed, including demographic data, clinical manifestations, auxiliary examinations, molecular genetic information, treatment, and follow-up, etc. Next generation sequencing and Sanger sequencing were used for complement genes screening. The incidence and clinical features of HUS were analyzed according to the statistical results. Results: Children with D-HUS in the southwestern China were sporadic, the peak season was summer, and the onset number of school-age children took the lead. The clinical manifestations were mainly acute renal failure, hemolysis, and hemorrhage. Digestive and nervous system symptoms were the common extralaral manifestations. One case of HUS related Streptococcus pneumoniae was diagnosed, 5 cases were tested for complement gene and 3 cases were positive, including CFI gene mutation, CFHR4 gene mutation and suspected homozygous deletion of CFHR1/CFHR4 gene fragment. Symptomatic and anti-infective treatment, component blood transfusion and hemopurification were the main treatments for acute phase. Totally 12 patients received plasma exchange. The differences of hemoglobin, platelet, serum creatinine, blood urea nitrogen, lactate dehydrogenase, total bilirubin and indirect bilirubin before and after plasma exchange were statistically significant (P<0.05). A total of 19 cases were followed up, 14 cases were completely relieved, 2 cases were partially relieved, 1 case had recurrence, 1 case was chronic treatment, and 1 case died. Conclusion: The diagnosis and treatment methods and prognosis of D-HUS are different for different etiology. Early diagnosis of HUS and targeted treatment are of great significance to improve acute symptoms and long-term prognosis.