No clinical trials of medications for ch ILD have been conducted to date. Corticosteroids have been the mainstay of therapy in most children and adults with interstitial lung disease (ILD), despite little conclusive evidence of their efficacy. Plaquenil mouth sores Does plaquenil cause heat intolerance Plaquenil maculopathy icd 10 Childhood interstitial lung disease due to surfactant protein C deficiency frequent use and costs of hospital services for a single case in Australia Neil J Hime 1, 2 Dominic Fitzgerald 2, 3 Focusing on immunomodulation and aggressive anti-inflammatory therapy, a triple-drug combination was chosen with hydroxychloroquine, azithromycin, and methylprednisolone pulse based on sporadic success in surfactant protein C deficiency. SFTPC gene mutations associated with surfactant dysfunction affect the processing of the SP-C protein. Many of the mutations occur in a particular region of the gene called the BRICHOS domain, which appears to be involved in the processing and cellular placement of the SP-C protein. These agents elicit anti-inflammatory properties and cause profound and varied metabolic effects. The medications commonly used for pharmacotherapy in ch ILD and common adverse effects are reviewed below. Hydroxychloroquine surfactant protein c deficiency Successful treatment of neonatal respiratory failure., ABCA3 Transporter Deficiency American Journal of. Long term side effects hydroxychloroquine In a recently published report, three infants with SP-C deficiency due to an I73T mutation and unusually early respiratory symptoms carried an additional mutation in the ATP binding cassette protein A3 gene ABCA3, a phospholipid carrier essential for lamellar body formation and surfactant intracellular assembly. Surfactant Protein C-associated interstitial lung disease.. SFTPC gene - Genetics Home Reference - NIH. Surfactant Protein C-associated interstitial lung disease; three.. Lung transplantation was successful in children with SFTPC gene mutation as noted in one case report. 4 Few cases of surfactant protein C deficiency treated with hydroxychloroquine have been. The 5-year survival rate following lung transplantation has been reported to be about 50%. In older children with milder forms of surfactant protein deficiency, corticosteroids and hydroxychloroquine may be considered. Further studies are needed to evaluate the benefits of these medications. Summary. The clinical course and treatment in the first 2.5 years of life of a term-born girl with a severe onset of respiratory symptoms in the neonatal period caused by a p. Cys121Phe/C121F mutation in the gene of surfactant protein C SFTPC is described. During the first 9 months of life, she was mechanically ventilated.