Disfunción del transportador del surfactante pulmonar ABCA3:Reporte de un caso peruano

Héctor Nuñez-Paucar, Carlos Valera-Moreno, Mariela K. Zamudio-Aquise, Roxana Lipa-Chancolla, Fabio Pérez-Garfias, Ana G. Moncada-Arias, Noé Atamari-Anahui

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

Resumen

Background: Genetic disorders affecting pulmonary surfactant homeostasis are a major cause of respiratory distress syndrome in full-term newborn and childhood interstitial lung disease. The ABCA3 transporter (ATP binding cassette A3) intervenes in the normal production of surfactant that covers the interior of alveolar walls and plays a fundamental role as a surfactant. Case report: Male term newborn who presented respiratory distress 3 days after birth and required mechanical ventilation. Studies to determine other causes of lung disease were negative. Lung biopsy was performed for the study with light microscopy and electron microscopy. Electron microscopy showed small abnormal lamellar bodies in addition to peripheral electrodense condensations characteristic of ABCA3 transporter mutation. Treatment was started with pulses of methylprednisolone, hydroxychloroquine, azithromycin, and high-dose inhaled corticosteroids, finding a favorable clinical and radiological response to follow-up. Conclusions: Correlation of clinical characteristics and images (tomography and electron microscopy) can be useful for the diagnosis of lung surfactant dysfunction, especially in low and medium-income countries where genetic studies to determine the different ABCA3 transporter mutations are not available. This is one of the first cases reported in Peru with an adequate response to treatment and favorable evolution to follow-up.

Título traducido de la contribuciónSurfactant ABCA3 transporter dysfunction: A case report from Peru
Idioma originalEspañol
Páginas (desde-hasta)239-244
Número de páginas6
PublicaciónBoletin Medico del Hospital Infantil de Mexico
Volumen78
N.º3
DOI
EstadoPublicada - 1 may 2021
Publicado de forma externa

Palabras clave

  • ATP binding cassette A3
  • Child
  • Lung diseases
  • Newborn
  • Pulmonary surfactants

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