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

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.

COMDORA-SBN recommendations for patients with rare kidney diseases in relation to the Covid-19 pandemic.

During the Covid-19 pandemic, the issue is how to maintain adequate care for people with other diseases. In this document, the SBN Rare Diseases Committee (COMDORA) gives some guidelines on the care of patients with rare kidney diseases. These patients should follow the recommendations for the general population, bearing in mind that, as they have chronic kidney disease, they are included in the risk group for more serious outcomes if they develop Covid-19. Non-essential decision-making procedures should be postponed. In stable cases under appropriate treatment, we must choose to contact our patients remotely, using teleconsultations and home exam collections (if possible). In the presence of a symptom or sign of decompensation of the underlying disease, or infection with Sars-cov-2, advise the patient to seek medical assistance. The patient should not be waiting to get worse. Changes to the prescription should only be made on a scientific basis. Dosage suspension or change is not recommended, even in cases in which the patient needs to go to a center to receive his medication; in this case, the infusion center must follow the recommendations of the Ministry of Health. If the patient develops Covid-19 and uses any drugs, check the need for dose adjustment of the routine medications. Avoid the use of antimetabolics and anti-CD20 in patients with Covid-19, as they reduce viral clearance and predispose to bacterial infections. Contact between the patient and the medical team is essential; changes are recommended only with specialized medical guidance.

COMDORA-SBN recommendations for patients with rare kidney diseases in relation to the Covid-19 pandemic / Recomendações do COMDORA-SBN a pacientes portadores de doenças renais raras em relação à pandemia de Covid-19

ABSTRACT During the Covid-19 pandemic, the issue is how to maintain adequate care for people with other diseases. In this document, the SBN Rare Diseases Committee (COMDORA) gives some guidelines on the care of patients with rare kidney diseases. These patients should follow the recommendations for the general population, bearing in mind that, as they have chronic kidney disease, they are included in the risk group for more serious outcomes if they develop Covid-19. Non-essential decision-making procedures should be postponed. In stable cases under appropriate treatment, we must choose to contact our patients remotely, using teleconsultations and home exam collections (if possible). In the presence of a symptom or sign of decompensation of the underlying disease, or infection with Sars-cov-2, advise the patient to seek medical assistance. The patient should not be waiting to get worse. Changes to the prescription should only be made on a scientific basis. Dosage suspension or change is not recommended, even in cases in which the patient needs to go to a center to receive his medication; in this case, the infusion center must follow the recommendations of the Ministry of Health. If the patient develops Covid-19 and uses any drugs, check the need for dose adjustment of the routine medications. Avoid the use of antimetabolics and anti-CD20 in patients with Covid-19, as they reduce viral clearance and predispose to bacterial infections. Contact between the patient and the medical team is essential; changes are recommended only with specialized medical guidance.

RESUMO Durante a pandemia da Covid-19, fica a questão de como manter o atendimento adequado aos portadores de outras doenças. O Comitê de Doenças Raras (COMDORA) da SBN neste documento dá algumas orientações ao atendimento de pacientes com doenças renais raras. Estes pacientes devem seguir as recomendações destinadas à população geral tendo em mente que, por serem portadores de doença renal crônica, estão incluídos no grupo de risco para desfechos mais graves, caso venham a desenvolver a Covid-19. Procedimentos não essenciais para tomada de decisão devem ser adiados. Deve-se optar por contatos a distância, como teleconsultas, e coletas de exames domiciliares (se possível) nos casos estáveis sob tratamento adequado. Na presença de sintoma ou sinal de descompensação da doença de base ou infecção pelo Sars-cov-2, orientar o paciente a procurar a equipe médica. O paciente não deve ficar esperando o quadro agravar-se. Alterações na prescrição só devem ser feitas com embasamento científico. Não se recomenda a suspensão ou alteração posológica, mesmo nos casos em que o paciente necessita ir a um centro para receber sua medicação; neste caso o centro de infusão deve seguir as recomendações do Ministério da Saúde. Caso o paciente desenvolva a Covid-19 e faça uso de alguma droga, verificar a necessidade de ajuste nas doses dos medicamentos rotineiros. Evitar o uso de antimetabólicos e antiCD20 nos pacientes com a Covid-9, por reduzirem o clareamento viral e predisporem a infecções bacterianas. O contato entre paciente e equipe médica é essencial; alterações são recomendadas apenas com orientação médica especializada.