RESUMO
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.
RESUMO
Background: Ethnic information regarding juvenile idiopathic arthritis (JIA) exists for various populations across the world but is fully lacking for Roma. We assessed the occurrence and clinical characteristics of JIA in Roma vs. non-Roma children. Methods: We obtained data on all outpatients (n = 142) from a paediatric rheumatology centre (age 3 to 18 years) in the eastern part of Slovakia (Kosice region). We assessed patients' age, gender, disease type and related extra-articular conditions by ethnicity. We obtained population data from the 2011 census. Results: The share of Roma children was higher in the clinical JIA sample than in the overall population (24.6%, n = 35, Roma in the sample vs. 10.8%, n = 142, Roma in the population, p < 0.05). Moreover, Roma children had been diagnosed more frequently with extra-articular conditions but did not differ in other symptoms. Treatments also did not differ by ethnicity. Conclusion: Roma children had been diagnosed more with JIA than their non-Roma peers. This calls for further research on the causes of this increased disease burden in Roma children.
