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Article

Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report.

Journal of medical case reports - 2 Feb 2021

Shaaban Waleed, Hammoud Majeda, Abdulraheem Ali, Elsayed Yasser Yahia, Alkazemi Nawal

Abstract excerpt

BACKGROUND: Pulmonary surfactant is a complex mixture of lipids and specific proteins that stabilizes the alveoli at the end of expiration. Mutations in the gene coding for the triphosphate binding cassette transporter A3 (ABCA3), which facilitates the transfer of lipids to lamellar bodies, constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome and chronic interstitial lung...

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Identifiers

PMID: 33526094
DOI: 10.1186/s13256-020-02604-5
PMCID: PMC7851913

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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