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Displasia alvéolo-capilar : a propósito de um caso clínico
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Introdução: A displasia alvéolo-capilar é uma patologia genética rara que ocorre no primeiro ano de vida, habitualmente no período neonatal. Esta doença manifesta-se por hipoxemia e hipertensão arterial pulmonar grave, geralmente refratária à terapêutica médica, com morte ao fim de alguns dias a semanas. O diagnóstico é histológico através de autópsia. Alguns casos têm uma apresentação atípica com um fenótipo mais ligeiro, início da doença mais tardio e possibilidade de realizar transplante pulmonar bilateral após biópsia pulmonar diagnóstica. Atualmente, sabe-se que a haploinsuficiência do gene FOXF1 pode estar associada à doença.
Caso Clínico: Recém-nascida do sexo feminino, com diagnóstico pré-natal de quistos intra-abdominais, submetida a cirurgia para remoção dos mesmos no 2º dia de vida. Durante a cirurgia teve episódio de hipoxemia grave, que reverteu após esvaziamento dos quistos. Após a cirurgia teve novo episódio de hipoxémia grave com necessidade de ventilação de alta frequência oscilatória. Dos exames complementares realizados após a cirurgia destaca-se: radiografia torácica evidenciando discreta hipotransparência bilateral, sem evidência de pneumotórax; ecocardiograma transtorácico diagnosticando hipertensão pulmonar grave. Iniciou óxido nítrico inalado com recuperação gradual das saturações, seguido de agravamento clínico posterior com necessidade de aumento dos parâmetros ventilatórios, do óxido nítrico e aminas vasopressoras. A doente faleceu no 3º dia de vida. O exame anátomo-patológico dos pulmões apresentava achados consistentes com o diagnóstico de displasia alvéolo-capilar.
Conclusão: A raridade desta patologia e a sua apresentação inespecífica dificultam o seu diagnóstico e tratamento atempados, pelo que se torna fundamental a descrição de novos casos clínicos e a realização de investigação que permita novas formas de diagnóstico e tratamento por forma a reduzir a sua mortalidade.
Introduction: Alveolar-capillary dysplasia is a rare genetic pathology that occurs during the first year of life, usually in the neonatal period. This disease presents with hypoxemia and severe pulmonary arterial hypertension, usually refractory to medical therapy, with death occuring after a period of days to weeks. The diagnosis is based on histological examination through autopsy. Some cases have an atypical presentation with a milder phenotype, later onset of the disease and the possibility of a bilateral lung transplant after a diagnostic lung biopsy. It is currently known that haploinsufficiency of the FOXF1 gene may be associated with the disease. Case Report: A female newborn with a prenatal diagnosis of intra-abdominal cysts, submitted to exploratory surgical intervention on the second day of life. During the surgery, severe hypoxemia occurred, with some improvement during the procedure. After surgery, she had another episode of hypoxemia requiring high-frequency oscillatory ventilation. Main results from the complementary exams performed after surgery include: chest X-ray showing mild bilateral hypotransparency, with no evidence of pneumothorax; transthoracic echocardiogram showing severe pulmonary hypertension. Nitric oxide was started with partial recovery of oxygenation. Worsening of clinical status ensued, with the need for increasing ventilatory parameters, increasing of nitric oxide dosage and starting vasopressive amines. The patient died on the third day of life. The anatomopathological examination of the lungs showed findings which were consistent with the diagnosis of alveolar-capillary dysplasia. Conclusion: The rarity of this pathology and its non-specific presentation leads to a difficulty in diagnosing and treating promptly, hence it is essential to disclose case reports and carry out research on this matter, allowing for improved diagnosis and treatment to reduce mortality.
Introduction: Alveolar-capillary dysplasia is a rare genetic pathology that occurs during the first year of life, usually in the neonatal period. This disease presents with hypoxemia and severe pulmonary arterial hypertension, usually refractory to medical therapy, with death occuring after a period of days to weeks. The diagnosis is based on histological examination through autopsy. Some cases have an atypical presentation with a milder phenotype, later onset of the disease and the possibility of a bilateral lung transplant after a diagnostic lung biopsy. It is currently known that haploinsufficiency of the FOXF1 gene may be associated with the disease. Case Report: A female newborn with a prenatal diagnosis of intra-abdominal cysts, submitted to exploratory surgical intervention on the second day of life. During the surgery, severe hypoxemia occurred, with some improvement during the procedure. After surgery, she had another episode of hypoxemia requiring high-frequency oscillatory ventilation. Main results from the complementary exams performed after surgery include: chest X-ray showing mild bilateral hypotransparency, with no evidence of pneumothorax; transthoracic echocardiogram showing severe pulmonary hypertension. Nitric oxide was started with partial recovery of oxygenation. Worsening of clinical status ensued, with the need for increasing ventilatory parameters, increasing of nitric oxide dosage and starting vasopressive amines. The patient died on the third day of life. The anatomopathological examination of the lungs showed findings which were consistent with the diagnosis of alveolar-capillary dysplasia. Conclusion: The rarity of this pathology and its non-specific presentation leads to a difficulty in diagnosing and treating promptly, hence it is essential to disclose case reports and carry out research on this matter, allowing for improved diagnosis and treatment to reduce mortality.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2024
Palavras-chave
Displasia alvéolo-capilar Gene FOXF1 Hipertensão pulmonar Transplante pulmonar bilateral Pediatria