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The lung biopsy showed a picture consistent with a congenital surfactant deficiency (either of protein B or C) or the absence of lamellar bodies in alveolar type 2 cells (fig 1).
Genetic analysis showed a de novo mutation in SFTP-C gene (I73T aminoacidic substitution). Diagnosis of surfactant protein C deficiency (SP-C) was formulated.
Hydroxychloroquine 10 mg/kg/day was started in the first twin, preceded by 3 months of prednisone 2 mg/kg/day because of the severity of …