TWIN SISTER WITH SURFACTANT DISORDER MECHANISM DUE TO MUTATION IN SFTPC AT VIETNAM NATIONAL CHILDREN’S HOSPITAL

Abstract

The twin sisters were identified mutation inSFTPC, leading to a surfactant disorder mechanism, at the Vietnam National Children’s Hospital. 15-month-old girls had a history of pneumonia and required ventilation when they were 3 months old, subsequently depending on oxygen support. Clinical examinations revealed chronic hypoxemia, finger clubbing, malnutrition, and the need for daily oxygen support at home. A clinical targeted genes related to childhood interstitial lung diseases was sequenced and a pathogenic missense variant c.218T>C (p.Ile73Thr) in SFTPCwas identified. Following the Delphi consensus, the patients are currently being treated with oral prednisolone, hydroxychloroquine, and azithromycin. Their mother was advised to purchase CPAP equipment for home respiratory support. However, acquiring CPAP is challenging due to its cost, not only for the machine but also for the accompanying staff required for daily home visits. Pediatric lung transplantation presents another difficult decision for the family, given the 50% success rate and the limited availability of centers capable of performing this procedure worldwide. Despite the emergence of new treatments for conditions due to mutations in SFTPC, treating these rare patients remains a challenge for pediatricians.