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. 2022 Apr 11;15(8):1601-1611.
doi: 10.1093/ckj/sfac097. eCollection 2022 Aug.

Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry

Maria Helena Vaisbich  1 , Luís Gustavo Modelli de Andrade  2 , Precil Diego Miranda de Menezes Neves  3 , Lílian Monteiro Pereira Palma  4 , Maria Cristina Ribeiro de Castro  5 , Cassiano Augusto Braga Silva  6 , Maria Izabel Neves de Holanda Barbosa  7 , Maria Goretti Moreira Guimarães Penido  8 , Oreste Ângelo Ferra Neto  9 , Roberta Mendes Lima Sobral  10 , Silvana Maria Carvalho Miranda  11 , Stanley de Almeida Araújo  12 , Igor Gouveia Pietrobom  13 , Henrique Mochida Takase  14 , Cláudia Ribeiro  11 , Rafael Marques da Silva  15 , César Augusto Almeida de Carvalho  16 , David José Barros Machado  5 , Ana Mateus Simões Teixeira E Silva  17 , Andreia Ribeiro da Silva  18 , Enzo Ricardo Russo  19 , Flávio Henrique Soares Barros  20 , Jarinne Camilo Landim Nasserala  21 , Luciana Schmitt Cardon de Oliveira  22 , Lucimary de Castro Sylvestre  23 , Rafael Weissheimer  24 , Sueli Oliveira Nascimento  25 , Gilson Bianchini  26 , Fellype de Carvalho Barreto  26 , Valéria Soares Pigozzi Veloso  17 , Patrícia Marques Fortes  27 , Vinicius Sardão Colares  28 , Jaelson Guilhem Gomes  29 , André Falcão Pedrosa Leite  30 , Pablo Girardelli Mendonça Mesquita  31 , Osvaldo Merege Vieira-Neto  32
Affiliations

Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry

Maria Helena Vaisbich et al. Clin Kidney J. .

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 <2 years of age group, males were predominant. Children presented lower levels of hemoglobin (P = .01) and platelets (P = .003), and higher levels of lactate dehydrogenase (LDH) (P = .004) than adults. Genetic analysis performed in 44% of patients revealed pathogenic variants in 66.6% of them, mainly in CFH and the CFHR1-3 deletion. Plasmapheresis was performed more often in adults (P = .005) and 97.3% of patients were treated with eculizumab and its earlier administration was associated with dialysis-free after 3 months (P = .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 CFH and the CFHR1-3 deletion with no preference of age, a peculiar pattern of Brazilian patients.

Keywords: Brazil; atypical hemolytic uremic syndrome; eculizumab; genetic; rare diseases.

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Figures

Graphical Abstract
Graphical Abstract
FIGURE 1:
FIGURE 1:
Density distribution of the time between aHUS diagnosis and eculizumab infusion in days. Patients are divided in two groups by dialysis need: the blue color refers to dialysis independent and red color to dialysis dependent.
See this image and copyright information in PMC

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