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2018

ANUÁRIO DO HOSPITAL DONA ESTEFÂNIA
REPOSITÓRIO MÉDICO CIENTÍFICO

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X-LINKED AGAMMAGLOBULINEMIA: A PORTUGUESE NATIONAL SURVEY

Alexandre Fernandes1, Carla Teixeira1, Susana Lopes da Silva2, Sara Pereira da Silva2, Isabel Esteves2, José Gonçalo Marques2, Conceição Neves3, João Farela Neves3, Emília Faria4, Margarida Guedes1, Sónia Lemos4, Laura Marques1.

1-Centro Hospitalar do Porto
2-Centro Hospitalar de Lisboa Ocidental
3-Unidade de Imunodeficiências Primárias, Área Departamental de Pediatria Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central
4-Centro Hospitalar Universitario de Coimbra

Grupo Português de Imunodeficiências Primárias

- 16 thBiennial meeting og the European Society fo Immunodeficiencies, Praga, Novembro 2014
- Apresentação em poster e publicação sob a forma de resumo

Resumo:
Introduction: X-Linked agammaglobulinemia (XLA) is a primary immunodeficiency that causes recurrent bacterial infections in affected males. Appropriate lifelong immunoglobulin replacement therapy (IRT) is indicated to prevent infections and their complications. The aim of this study is to characterize the Portuguese experience on XLA.
Materials and Methods: A national survey of children and adolescents diagnosed with XLA was accomplished referred to the 1st May 2014. Data was collected retrospectively by review of clinical files and clinical presentation, treatment and follow-up were assessed.
Results: Thirty-three children with XLA were diagnosed and followed in 4 centres. Two children (6%) had a positive family history. Infection led to diagnosis in 31 (94%) at an average age of 36 months (range:7-108 months). The average age of onset was 15 months. Infections included acute otitis media (23/33), pneumonia (19/33) (recurrent in 11), septic arthritis (11/33), giardiasis (8/33) and sepsis (5/33). Haemophilus influenza was identified in nine (27%) and Pseudomonas aeruginosa in 4 (12%). All fulfilled diagnostic criteria for XLA with a Btk mutation identified in 29 (88%). Six (18%) presented neutropenia at diagnosis. All were on IRT: the majority on subcutaneous IgG and 36% on intravenous IgG. The average time of IRT is 13.5 years (cumulative time: 324 years). One death occurred not associated to XLA. During follow-up 25 (76%) cases presented infectious complications: sinusitis (17/33), giardiasis (8/33), conjunctivitis (7/33) and pneumonia (5/33). Seven (21%) patients developed bronchiectasis.
Discussion: The overall prognosis of XLA is good as long as patients are diagnosed and treated early. However, even with adequate IgG replacement therapy, complications can occur.

Palavras Chave: X-LINKED AGAMMAGLOBULINEMIA, infection, immunoglobulin