Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report
| Autor: | Ali Abdulraheem, Waleed Shaaban, Nawal Alkazemi, Yasser Yahia Elsayed, Majeda S. Hammoud |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
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medicine.medical_specialty Neonatal respiratory distress syndrome medicine.medical_treatment lcsh:Medicine Case Report ABCA3 Gene mutation Gastroenterology 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Lung transplantation Humans Respiratory system Child Respiratory Distress Syndrome Newborn biology Respiratory distress business.industry lcsh:R Infant Newborn Infant Hydroxychloroquine Pulmonary surfactant General Medicine medicine.disease 030228 respiratory system Respiratory failure 030220 oncology & carcinogenesis Mutation biology.protein ATP-Binding Cassette Transporters business Lung Diseases Interstitial medicine.drug |
| Zdroj: | Journal of Medical Case Reports Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-5 (2021) |
| ISSN: | 1752-1947 |
| Popis: | 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 disease in children. Hydroxychloroquine can be used as an effective treatment for this rare severe condition. Case presentation We report a late preterm Bosnian baby boy (36 weeks) who suffered from a severe form of respiratory distress syndrome with poor response to intensive conventional management and whole exome sequencing revealed homozygous ABCA3 mis-sense mutation. The baby showed remarkable improvement of the respiratory condition after the initiation of Hydroxychloroquine, Azithromycin and Corticosteroids with the continuation of Hydroxychloroquine as a monotherapy till after discharge from the hospital. Conclusion Outcome in patients with ABCA3 mutations is variable ranging from severe irreversible respiratory failure in early infancy to chronic interstitial lung disease in childhood (ChILD) usually with the need for lung transplantation in many patients surviving this rare disorder. Hydroxychloroquine through its anti-inflammatory effects or alteration of intra-cellular metabolism may have an effect in treating cases of ABCA3 gene mutations. |
| Databáze: | OpenAIRE |
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