학술논문
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry
Document Type
Academic Journal
Author
Vaisbich, Maria Helena; Andrade, Luis Gustavo Modelli de; Diego Neves, Precil Miranda de Menezes; Palma, Lilian Monteiro Pereira; Castro, Maria Cristina Ribeiro de; Silva, Cassiano Augusto Braga; Izabel Barbosa, Maria Neves de Holanda; Penido, Maria Goretti Moreira Guimaraes; Neto, Oreste Angelo Ferra; Sobral, Roberta Mendes Lima; Miranda, Silvana Maria Carvalho; Araujo, Stanley de Almeida; Pietrobom, Igor Gouveia; Takase, Henrique Mochida; Ribeiro, Claudia; Silva, Rafael Marques da; Carvalho, Cesar Augusto Almeida de; Machado, David Jose Barros; Mateus Simoes Silva, Ana Teixeira e.; Silva, Andreia Ribeiro da; Russo, Enzo Ricardo; Barros, Flavio Henrique Soares; Nasserala, Jarinne Camilo Landim; Oliveira, Luciana Schmitt Cardon de; Sylvestre, Lucimary de Castro; Weissheimer, Rafael; Bianchini, Gilson; Barreto, Fellype de Carvalho; Veloso, Valeria Soares Pigozzi; Fortes, Patricia Marques; Colares, Vinicius Sardao; Gomes, Jaelson Guilhem; Leite, Andre Falcao Pedrosa; Mesquita, Pablo Girardelli Mendonga
Source
Clinical Kidney Journal. August, 2022, Vol. 15 Issue 8, p1601, 11 p.
Subject
Language
English
ISSN
2048-8505
Abstract
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 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 CFH and the CFHR1-3 deletion with no preference of age, a peculiar pattern of Brazilian patients. Keywords: atypical hemolytic uremic syndrome, Brazil, eculizumab, genetic, rare diseases
INTRODUCTION Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy caused by the inability to self-regulate the alternative complement pathway. As consequence of this pathway imbalance, a massive membrane attack [...]
INTRODUCTION Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy caused by the inability to self-regulate the alternative complement pathway. As consequence of this pathway imbalance, a massive membrane attack [...]