ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2022
[Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases].
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 1 citations in OpenAlex.
- [Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
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5 authors at 1 institution in 1 country.
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Abstract
objectivesTo study the clinical features and gene mutation sites of children with cystic fibrosis (CF), in order to improve the understanding of CF to reduce misdiagnosis and missed diagnosis.
methodsA retrospective analysis was performed on the medical records of 8 children with CF who were diagnosed in Hebei Children's Hospital from 2018 to 2021.
resultsAmong the 8 children with CF, there were 5 boys and 3 girls, with an age of 3-48 months (median 8 months) at diagnosis, and the age of onset ranged from 0 to 24 months (median 2.5 months). Clinical manifestations included recurrent respiratory infection in 7 children, sinusitis in 3 children, bronchiectasis in 4 children, diarrhea in 8 children, fatty diarrhea in 3 children, suspected pancreatic insufficiency in 6 children, pancreatic cystic fibrosis in 1 child, malnutrition in 5 children, and pseudo-Bartter syndrome in 4 children. The most common respiratory pathogens were
conclusionsp.G970D is the most common mutation type in children with CF. CF should be considered for children who have recurrent respiratory infection or test positive for
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