| Autor: |
Simona Drobnakova, Veronika Vargova, Jana Smolova, Petra Drencakova, Maria Giertlova, Maria Pisarcikova, László Barkai |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Respiratory Medicine Case Reports, Vol 50, Iss , Pp 102034- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2213-0071 |
| DOI: |
10.1016/j.rmcr.2024.102034 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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