Surfactant ABCA3 transporter dysfunction: A case report from Peru

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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Translated title of the contributionSurfactant ABCA3 transporter dysfunction: A case report from Peru
Original languageSpanish
Pages (from-to)239-244
Number of pages6
JournalBoletin Medico del Hospital Infantil de Mexico
Volume78
Issue number3
DOIs
StatePublished - 12 Jan 2021

Fingerprint

Dive into the research topics of 'Surfactant ABCA3 transporter dysfunction: A case report from Peru'. Together they form a unique fingerprint.

Cite this