Novel surfactant C variant c.325–47_374del without response to hydroxychloroquine treatment

• Published in: Respiratory medicine case reports Vol. 50; p. 102034
• Main Authors: Drobnakova, Simona, Vargova, Veronika, Smolova, Jana, Drencakova, Petra, Giertlova, Maria, Pisarcikova, Maria, Barkai, László
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01-01-2024; Elsevier
• Subjects: Case Report; Infant; Interstitial lung disease; Respiratory failure; SP-C gene mutation; Infant; SP-C gene mutation; Respiratory failure; Interstitial lung disease
• ISSN: 2213-0071; 2213-0071
• DOI: 10.1016/j.rmcr.2024.102034

Pathogenic variants of SP-C, which cause various lung diseases with varying ages of onset, are inherited in an autosomal dominant manner or appear de novo as new mutations. We present a case of fatal respiratory failure in a female infant. Genetic analysis confirmed an intragenic deletion encompassing exon 4 in the SFTPC gene, starting in the intron region before exon 4, extending into the exon 4 and portion, in a heterozygous state. This variant, c.325–47_374del, in the SFTPC gene has not yet been described in the literature. Despite an experimental therapy with hydroxychloroquine, the baby girl died on Day 162.