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Skip to content A fibrose cística é uma doença genética causada por mutações CFTR que afeta as glândulas exócrinas. Geralmente a A fibrose cística manifesta-se com produção de muco excessivamente viscoso, os pacientes normalmente experimentam obstrução das vias de passagem (por exemplo, dutos pancreáticos e biliares, intestinos e brônquios). A doença pulmonar é responsável pela maioria da morbidade nos pacientes.
A fibrose cística (FC) é uma doença genética complexa que afeta aproximadamente 1 em cada 3.400 nascimentos nos Estados Unidos e é a doença genética letal mais comum entre as populações caucasianas (pessoas de raça branca). A FC é causada por mutações no gene regulador da condutância transmembrana da fibrose cística (CFTR) que resultam em proteína CFTR disfuncional sendo a mutação F508del a mais comum.
A FC afeta quase todos os sistemas orgânicos, mas afeta mais gravemente os pulmões, o intestino e o sistema endócrino. Nos pulmões, a FC é marcada por um acúmulo de muco na camada de células epiteliais resultando em infecções espontâneas e progressivas e inflamação grave nos pulmões. O ciclo de infecção e inflamação resulta em diminuição da função pulmonar, que é a principal causa de morbimortalidade em indivíduos com FC6,7.
A inflamação está presente no início da FC, mesmo antes da infecção identificada, e persiste durante todo o curso da doença. Na tentativa de identificar as causas subjacentes do aumento da inflamação, os pesquisadores mediram citocinas pró-inflamatórias e anti-inflamatórias no fluido pulmonar epitelial (ELF), fluido de lavagem broncoalveolar (BALF), expectoração e soro de pacientes com FC de várias idades e vários estados de progressão da doença.
A história de Ana Luiza Ao nascer e após realizar o teste do pezinho, Ana Luiza dos Santos Derenievicz foi diagnosticada com fibrose cística. Encaminhada ao Hospital Pequeno Príncipe, teve a confirmação do diagnóstico pelo teste do suor. Desde então, a menina, que hoje está com 11 anos, faz tratamento na instituição, referência no atendimento de pacientes com a doença. A fibrose cística é uma enfermidade ainda desconhecida. No Brasil, estima-se que um a cada dez mil nascidos vivos tenha a doença, mas somente cerca de seis mil pessoas estão diagnosticadas e em tratamento.
Aos 11 anos, Ana Luiza ama os animais e sonha em ser médica-veterinária. Neste 5 de setembro, Dia Nacional de Conscientização e Divulgação da Fibrose Cística, a instituição reforça a importância do diagnóstico precoce e adesão ao tratamento de maneira adequada. Também conhecida como “doença do beijo salgado”, a fibrose cística é uma doença genética e que não tem cura, e as pessoas afetadas por ela precisam de cuidados especiais e atendimento multiprofissional.
Atendimento do Hospital Pequeno Príncipe no tratamento com pacients com FC O diagnóstico da fibrose cística começa pelo teste do pezinho, logo que a criança nasce, e deve ser realizado entre o terceiro e sétimo dia de vida. Para confirmar ou descartar o resultado, o teste do suor deve ser realizado e pode ser feito em qualquer fase da vida, em crianças, adolescentes, jovens e adultos que apresentem sintomas. O diagnóstico também pode ser confirmado por meio de exames genéticos.
O médico pneumologista Paulo Kussek, do Hospital Pequeno Príncipe, ressalta que a doença requer uma assistência multiprofissional. “O paciente deve ser acompanhado por uma equipe experiente de profissionais. Além disso, deve seguir as orientações quanto ao uso contínuo das medicações prescritas, bem como consultar regularmente no centro de referência em fibrose cística. É importante também que o paciente se organize em grupos ou associações para buscar seus direitos quanto ao acesso a consultas, exames e medicamentos”, destaca.
Sinais de alerta Procure um médico se identificar: – pneumonia de repetição; – tosse crônica; – dificuldade para ganhar peso e estatura; – má absorção de nutrientes; – diarreia constante; – suor mais salgado que o normal; – pólipos nasais; – baqueteamento digital.
O especialista enfatiza que, entendendo os limites da criança, ela pode levar uma vida sem restrições. “A criança tem todo o direito a ter uma vida normal, sem qualquer restrição, somente entendendo os limites que ela expressa principalmente na atividade física e com o uso crônico de medicamentos orais e inalatórios. Com isto, aumenta a longevidade do paciente, deixando de ser uma doença exclusivamente da criança para se tornar uma doença de adultos”, completa o pneumologista.
O Hospital Pequeno Príncipe conta com um ambulatório específico para o trabalho multiprofissional realizado em torno da fibrose cística. “Por ser uma doença ainda pouco conhecida e que, em geral, não provoca alterações fenotípicas [na aparência da criança], é comum que as famílias apresentem, em princípio, dificuldades para entender a determinação e os mecanismos da doença e do tratamento. Por isso, o maior desafio ainda está relacionado à promoção da adesão ao tratamento”, informa a psicóloga Angelita Wisnieski da Silva.
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Meu filho de 3 anos esteve internado com obstrução intestinal e outras pneumonia bacterianas ,ele tem febre sempre ,muito magrinho . A gastro pediu teste do suor que deu normal,mas acho que ele tem fibrose cística ,os sintomas dele gritam. Tosse muito ,sempre.em.uso de Aerolin e faz uso.de.clenil,uso contínuo,sempre.tomando antibiótico e com sthaplococus aureus na cultura de orofaringe. N