RESUMO
En pediatría, la enfermedad vascular pulmonar es multifactorial y heterogénea. Si bien comparte algunas características con la hipertensión pulmonar en los adultos, hay diferencias en las comorbilidades y condiciones asociadas, la coexistencia de enfermedades genéticas o del desarrollo. Las enfermedades pulmonares intersticiales pueden ser causantes de esta entidad. Una de ellas es la displasia alvéolo-capilar con mal alineamiento de las venas pulmonares, una patología infrecuente pero con 100% de mortalidad, caracterizada por la falla en la formación del tejido pulmonar que da por resultado final la alteración en la difusión de gases. Se describe un caso clínico de una paciente de 5 meses de edad estudiada a partir de sospechar una cardiopatía congénita con hipoxemia persistente, a cuyo diagnóstico se llega por la biopsia pulmonar.
Pulmonary vascular disease in children is multifactorial and heterogeneous. While it shares some features with pulmonary hypertension in adults, there are differences in the associated comorbidities and conditions, the coexistence of genetic or developmental diseases. Interstitial lung diseases may be responsible for this entity. One is alveolar capillary dysplasia with misalignment of pulmonary veins, a rare pathology but with a mortality rate of 100%, characterized by a failure in the formation of lung tissue that eventually results in impaired gas diffusion. We present a 5-month-old patient studied due to suspected congenital heart disease with persistent hypoxemia; diagnosis was made through lung biopsy.
Assuntos
Humanos , Feminino , Lactente , Doenças Pulmonares Intersticiais/complicações , Hipertensão Pulmonar/etiologiaRESUMO
Pulmonary vascular disease in children is multifactorial and heterogeneous. While it shares some features with pulmonary hypertension in adults, there are differences in the associated comorbidities and conditions, the coexistence of genetic or developmental diseases. Interstitial lung diseases may be responsible for this entity. One is alveolar capillary dysplasia with misalignment of pulmonary veins, a rare pathology but with a mortality rate of 100%, characterized by a failure in the formation of lung tissue that eventually results in impaired gas diffusion. We present a 5-month-old patient studied due to suspected congenital heart disease with persistent hypoxemia; diagnosis was made through lung biopsy.
En pediatría, la enfermedad vascular pulmonar es multifactorial y heterogénea. Si bien comparte algunas características con la hipertensión pulmonar en los adultos, hay diferencias en las comorbilidades y condiciones asociadas, la coexistencia de enfermedades genéticas o del desarrollo. Las enfermedades pulmonares intersticiales pueden ser causantes de esta entidad. Una de ellas es la displasia alvéolo-capilar con mal alineamiento de las venas pulmonares, una patología infrecuente pero con 100% de mortalidad, caracterizada por la falla en la formación del tejido pulmonar que da por resultado final la alteración en la difusión de gases. Se describe un caso clínico de una paciente de 5 meses de edad estudiada a partir de sospechar una cardiopatía congénita con hipoxemia persistente, a cuyo diagnóstico se llega por la biopsia pulmonar.
Assuntos
Hipertensão Pulmonar/etiologia , Doenças Pulmonares Intersticiais/complicações , Feminino , Humanos , LactenteRESUMO
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, developmental lung disorder, which has been increasingly reported. This entity usually presents as neonatal persistent pulmonary hypertension that is unresponsive to treatment, and is known to be uniformly fatal. Recent discoveries in the genetic field, and intensive treatments, may change the natural course of this disease, permitting easier diagnosis and giving new hope for the dismal prognosis. The authors present two cases of siblings, with two years of difference, from different fathers - one of them was a first-degree and the other a second-degree cousin of the mother. Both patients were full-term babies born apparently without malformations and were sent to the nursery. Both siblings near 35 hours of age presented severe respiratory failure due to pulmonary hypertension. The outcome was fatal in both cases and at autopsy ACD/MPV was diagnosed. The authors call attention to this entity in the differential diagnosis of acute respiratory distress in early life.
RESUMO
Alveolar capillary dysplasia (ACD) with misalignment of pulmonary veins (MPV) is a lethal neonatal lung disease. Death from ACD/MPV is caused by hypoxia, but the role of the MPV is unknown. Using 3-dimensional reconstruction of ACD/MPV lung tissue, we report that the veins in MPV are intrapulmonary shunt vessels, and speculate that MPV contributes to the poor prognosis.