巴西非典型溶血尿毒综合征患者的基线特征与病情演变：巴西非典型溶血尿毒综合征注册研究的首次报告
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry.
作者信息
Vaisbich Maria Helena, de Andrade Luís Gustavo Modelli, de Menezes Neves Precil Diego Miranda, Palma Lílian Monteiro Pereira, de Castro Maria Cristina Ribeiro, Silva Cassiano Augusto Braga, de Holanda Barbosa Maria Izabel Neves, Penido Maria Goretti Moreira Guimarães, Neto Oreste Ângelo Ferra, Sobral Roberta Mendes Lima, Miranda Silvana Maria Carvalho, de Almeida Araújo Stanley, Pietrobom Igor Gouveia, Takase Henrique Mochida, Ribeiro Cláudia, da Silva Rafael Marques, de Carvalho César Augusto Almeida, Machado David José Barros, E Silva Ana Mateus Simões Teixeira, da Silva Andreia Ribeiro, Russo Enzo Ricardo, Barros Flávio Henrique Soares, Nasserala Jarinne Camilo Landim, de Oliveira Luciana Schmitt Cardon, de Castro Sylvestre Lucimary, Weissheimer Rafael, Nascimento Sueli Oliveira, Bianchini Gilson, de Carvalho Barreto Fellype, Veloso Valéria Soares Pigozzi, Fortes Patrícia Marques, Colares Vinicius Sardão, Gomes Jaelson Guilhem, Leite André Falcão Pedrosa, Mesquita Pablo Girardelli Mendonça, Vieira-Neto Osvaldo Merege
机构信息
Pediatric Nephrology Service, Child Institute, University of São Paulo, São Paulo, Brazil.
Nephrology Division, Department of Internal Medicine, Universidade Estadual Paulista (UNESP), Botucatu, Brazil.
出版信息
Clin Kidney J. 2022 Apr 11;15(8):1601-1611. doi: 10.1093/ckj/sfac097. eCollection 2022 Aug.
BACKGROUND
Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease. Therefore, studies involving large samples are scarce, making registries powerful tools to evaluate cases. We present herein the first analysis of the Brazilian aHUS Registry (BRaHUS).
METHODS
Analysis of clinical, laboratory, genetic and treatment data from patients inserted in the BRaHUS, from 2017 to 2020, as an initiative of the Rare Diseases Committee of the Brazilian Society of Nephrology.
RESULTS
The cohort consisted of 75 patients (40 adults and 35 pediatric). There was a predominance of women (56%), median age at diagnosis of 20.7 years and a positive family history in 8% of cases. Renal involvement was observed in all cases and 37% had low C3 levels. In the <2 years of age group, males were predominant. Children presented lower levels of hemoglobin ( = .01) and platelets ( = .003), and higher levels of lactate dehydrogenase (LDH) ( = .004) than adults. Genetic analysis performed in 44% of patients revealed pathogenic variants in 66.6% of them, mainly in and the -3 deletion. Plasmapheresis was performed more often in adults ( = .005) and 97.3% of patients were treated with eculizumab and its earlier administration was associated with dialysis-free after 3 months ( = .08).
CONCLUSIONS
The cohort of BRaHUS was predominantly composed of female young adults, with renal involvement in all cases. Pediatric patients had lower hemoglobin and platelet levels and higher LDH levels than adults, and the most common genetic variants were identified in and the deletion with no preference of age, a peculiar pattern of Brazilian patients.
背景
非典型溶血尿毒综合征（aHUS）是一种极为罕见的疾病。因此，涉及大样本的研究稀缺，使得登记处成为评估病例的有力工具。我们在此展示巴西非典型溶血尿毒综合征登记处（BRaHUS）的首次分析。
方法
作为巴西肾脏病学会罕见病委员会的一项举措，对2017年至2020年纳入BRaHUS的患者的临床、实验室、基因和治疗数据进行分析。
结果
该队列由75名患者组成（40名成人和35名儿童）。女性占主导（56%），诊断时的中位年龄为20.7岁，8%的病例有阳性家族史。所有病例均观察到肾脏受累，37%的患者C3水平较低。在2岁以下年龄组中，男性占主导。儿童的血红蛋白水平（P = 0.01）和血小板水平（P = 0.003）低于成人，而乳酸脱氢酶（LDH）水平（P = 0.004）高于成人。对44%的患者进行的基因分析显示，其中66.6%存在致病变异，主要在[具体基因]和 -3缺失。血浆置换在成人中更常进行（P = 0.005），97.3%的患者接受了依库珠单抗治疗，其早期给药与3个月后无需透析相关（P = 0.08）。
结论
BRaHUS队列主要由年轻女性组成，所有病例均有肾脏受累。儿童患者的血红蛋白和血小板水平低于成人，LDH水平高于成人，最常见的基因变异在[具体基因]和[具体基因]缺失中被识别，无年龄偏好，这是巴西患者的一种特殊模式。
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