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2019

ANUÁRIO DO HOSPITAL
DONA ESTEFÂNIA

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Portuguese consensus document statement in diagnostic and management of atypical hemolytic uremic syndrome.

Ana Azevedo1, Bernardo Faria2, Catarina Teixeira3, Fernanda Carvalho4, Gisela Neto5, Josefina Santos6,7, Maria do Céu Santos8, Nuno Oliveira9,10, Teresa Fidalgo11, Joaquim Calado12,13

1 - Nephrology Consultant in Hospital Vila Franca de Xira
2 - Nephrology Department, Hospital de Braga
3 - Nephrology Department, Hospital Beatriz Ângelo, Loures
4 - Nephropathologist in Nefrolab-Clara Saúde, Paço de Arcos
5 - Pediatric Nephrology Unit, Department of Women, Children and Adolescents – Hospital de Dona Estefânia – Centro Hospitalar de Lisboa Central
6 - Nephrology Department, Hospital de Santo António – Centro Hospitalar do Porto
7 - Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar (ICBAS) – Universidade do Porto
8 - Immunobiologist in Clinical Pathology Department; Hospital de São José – Centro Hospitalar de Lisboa Central
9 - Nephrology Department, Centro Hospitalar Universitário de Coimbra
10 - University Clinic of Nephrology, Faculty of Medicine – Universidade de Coimbra
11 - Molecular Haematology Laboratory, Department of Clinical Hematology, Centro Hospitalar Universitário de Coimbra
12 - Nephrology Department, Hospital Curry Cabral – Centro Hospitalar de Lisboa Central
13 - Centre for Toxicogenomics and Human Health (ToxOmics), Genetics, Oncology and Human Toxicology, Nova Medical School – Universidade Nova de Lisboa.

- Port J Nephrol Hypert 2018; 32(3): 211-232. (artigo)

Resumo: Among thrombotic microangiopathies (TMA), the hemolytic uremic syndrome associated with dysregulation of the alternative complement pathway (aHUS) is one of the most challenging diseases a nephrologist can face. By the end of the XXth century, the complement’s role was unraveled with the discovery that mutations in the factor H coding gene were responsible for aHUS. But it was the acknowledgment that pharmacological C5-9 blockage provided a cure for aHUS that fostered the interest of the nephrology community in the genetics, pathophysiology and therapeutics of, not only of aHUS, but TMA in general. The molecular genetics of aHUS is technically demanding and, as such, in Portugal (alike many other European countries) a single laboratory emerged as a national reference center. The fact that all samples are evaluated in a single center provides a unique opportunity for data collection and a forum for discussion for all those interested in the field: immunologists, molecular geneticists, pathologists and nephrologists. The current consensus document emerged from such a discussion forum and was sponsored by the Portuguese Society of Nephrology. The goal is more to portray the Portuguese picture regarding the diagnostic approach and therapeutic options than to extensively review the state of the art of the subject. The accompanying documents that are published as supplementary data are in line with that goal. They range from the informed consent and clinical form to be sent together with the biological samples for genetic testing, to the appendix regarding the actual sampling and storing conditions. The document is also intended to set an example for future documents and independent discussion forums on other kidney diseases for which emerging diagnostic and/or therapeutic strategies are reaching clinical practice.

Palavras Chave: atypical hemolytic uremic syndrome, diagnosis, kidney transplantation, terminal complement blockage.