ABSTRACT
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.
Subject(s)
Lung Diseases, Interstitial , Respiratory Distress Syndrome, Newborn , ATP-Binding Cassette Transporters/genetics , Child , Humans , Hydroxychloroquine/therapeutic use , Infant , Infant, Newborn , Lung Diseases, Interstitial/drug therapy , Lung Diseases, Interstitial/genetics , Male , Mutation , Respiratory Distress Syndrome, Newborn/drug therapy , Respiratory Distress Syndrome, Newborn/geneticsABSTRACT
A 39-year-old woman who was taking the contraceptive pill was admitted with right leg deep venous thrombosis (DVT). She was started on apixaban tablets, but after 8 days developed proximal progression of the DVT and pulmonary embolism. Her medical history later showed a history of sleeve gastrectomy. The patient responded to a vitamin K antagonist after heparin. The failure of the antithrombotic drug shed light on the efficacy and changed pharmacodynamics of direct oral anticoagulants (DOACs) after bariatric surgery in the absence of commercially available blood monitoring tests. LEARNING POINTS: Bariatric surgery causes complicated changes in the pharmacodynamics of direct oral anticoagulants (DOACs).The absence of clinical data on the efficacy of DOACs after various bariatric procedures makes it difficult to justify their use after bariatric surgery.
