Clinical and imaging presentation in children with surfactant protein C gene mutation, a CRC chILD study

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Background, Objectives and methods: This retrospective multicentre study aimed to characterise the initial presentation, diagnosis, and treatment strategies in a large cohort of pediatric patients with surfactant protein C (SFTPC) mutations, a common cause of childhood interstitial lung disease (chILD). The study included cases registered in the French RespiRare network from 09-2008 to 12-2024. Results: Forty-six patients were included, with 40 (87%) presenting with acute respiratory distress within the first 24 months of life. The most common mutation, c.218T>C (p. Ile73Thr), was found in 56% of cases and was absent in patients with neonatal respiratory distress syndrome. Five patients (11%) had mild or asymptomatic forms (Fan score ≤ 2), all of whom carried the p. Ile73Thr mutation. Digestive symptoms were common. Initial high-resolution CT scans showed diffuse, symmetrical ground-glass opacities in 96% of cases, often with intralobular septal and pleural thickening. Initial oxygen supplementation was required in 91% of patients. Treatment was started earlier in those with rare mutations, with methylprednisolone pulses (78%) and/or oral steroids (72%). Adjuvant therapies like azithromycin and hydroxychloroquine were used in 57% and 52% of cases, respectively. Two patients (4%) died before the age of 2. Conclusions: SFTPC mutations causes heterogeneous presentations, often in the first year of life. The p. Ile73Thr mutation is associated with a milder prognosis and the absence of neonatal respiratory distress syndrome. While early mortality is relatively low compared to other inherited surfactant disorders, morbidity tends to be prolonged.

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