Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China

Objective. To explore the clinical manifestations, imaging features, and gene mutation characteristics of 6 children with cystic fibrosis (CF) so as to improve the understanding and diagnosis awareness of CF in children and reduce the missed diagnosis and misdiagnosis. Methods. The clinical manifest...

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Autores principales:	Yajuan Chu, Jinfeng Shuai, Kunling Huang, Jianhua Liu, Wenshan Lv, Baochi Li
Formato:	article
Lenguaje:	EN
Publicado:	Hindawi Limited 2021
Materias:	Other systems of medicine RZ201-999
Acceso en línea:	https://doaj.org/article/3e39767058884aeebe84418f768f4b24
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spelling	oai:doaj.org-article:3e39767058884aeebe84418f768f4b242021-11-15T01:19:56ZAnalysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China1741-428810.1155/2021/7254391https://doaj.org/article/3e39767058884aeebe84418f768f4b242021-01-01T00:00:00Zhttp://dx.doi.org/10.1155/2021/7254391https://doaj.org/toc/1741-4288Objective. To explore the clinical manifestations, imaging features, and gene mutation characteristics of 6 children with cystic fibrosis (CF) so as to improve the understanding and diagnosis awareness of CF in children and reduce the missed diagnosis and misdiagnosis. Methods. The clinical manifestations, imaging, and gene mutation data of six children with CF were collected and retrospectively analyzed. Results. Among the 6 cases of CF, there were 4 males and 2 females. Among the 6 children with CF, 5 cases presented with recurrent respiratory tract infection. Etiology suggested 3 cases of Pseudomonas aeruginosa and 2 cases of Staphylococcus aureus. 3 cases had pancreatic exocrine dysfunction, manifested as diarrhea and aliphatic diarrhea, of which 1 case had high lipase in blood examination, and pancreatic ultrasound showed rough and enhanced pancreatic echo, considering pancreatic cystic fibrosis. 2 cases of CF combined with pseudo-Bartter syndrome (PBS); 1 case involved only the biliary tract and started with cholestasis without other systemic involvement. In 2 cases of sweat test, sweat chloride ions were all >60 mmol/L. 3 cases underwent fiberoptic bronchoscopy, and a large number of sticky secretions were visible under the bronchoscopy. CT of the chest revealed thickening of the bronchial wall (3 cases), bronchiectasis (1 case), atelectasis (1 case), and thin bronchial lumen (2 cases). 1 patient was found to have small airway lesions and mosaic perfusion during follow-up. All 6 children with CF underwent genetic testing. A total of 12 CF transmembrane conductance regulator (CFTR) gene mutations were found, of which 4 mutations were not reported in the literature. Conclusion. CF is a disease caused by CFTR mutation. The incidence of this disease in China is low, and the clinical manifestations have great differences. The main symptoms are respiratory symptoms. Some children have gastrointestinal symptoms and/or PBS, and some children only show a single systemic lesion.Yajuan ChuJinfeng ShuaiKunling HuangJianhua LiuWenshan LvBaochi LiHindawi LimitedarticleOther systems of medicineRZ201-999ENEvidence-Based Complementary and Alternative Medicine, Vol 2021 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Other systems of medicine RZ201-999
spellingShingle	Other systems of medicine RZ201-999 Yajuan Chu Jinfeng Shuai Kunling Huang Jianhua Liu Wenshan Lv Baochi Li Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China
description	Objective. To explore the clinical manifestations, imaging features, and gene mutation characteristics of 6 children with cystic fibrosis (CF) so as to improve the understanding and diagnosis awareness of CF in children and reduce the missed diagnosis and misdiagnosis. Methods. The clinical manifestations, imaging, and gene mutation data of six children with CF were collected and retrospectively analyzed. Results. Among the 6 cases of CF, there were 4 males and 2 females. Among the 6 children with CF, 5 cases presented with recurrent respiratory tract infection. Etiology suggested 3 cases of Pseudomonas aeruginosa and 2 cases of Staphylococcus aureus. 3 cases had pancreatic exocrine dysfunction, manifested as diarrhea and aliphatic diarrhea, of which 1 case had high lipase in blood examination, and pancreatic ultrasound showed rough and enhanced pancreatic echo, considering pancreatic cystic fibrosis. 2 cases of CF combined with pseudo-Bartter syndrome (PBS); 1 case involved only the biliary tract and started with cholestasis without other systemic involvement. In 2 cases of sweat test, sweat chloride ions were all >60 mmol/L. 3 cases underwent fiberoptic bronchoscopy, and a large number of sticky secretions were visible under the bronchoscopy. CT of the chest revealed thickening of the bronchial wall (3 cases), bronchiectasis (1 case), atelectasis (1 case), and thin bronchial lumen (2 cases). 1 patient was found to have small airway lesions and mosaic perfusion during follow-up. All 6 children with CF underwent genetic testing. A total of 12 CF transmembrane conductance regulator (CFTR) gene mutations were found, of which 4 mutations were not reported in the literature. Conclusion. CF is a disease caused by CFTR mutation. The incidence of this disease in China is low, and the clinical manifestations have great differences. The main symptoms are respiratory symptoms. Some children have gastrointestinal symptoms and/or PBS, and some children only show a single systemic lesion.
format	article
author	Yajuan Chu Jinfeng Shuai Kunling Huang Jianhua Liu Wenshan Lv Baochi Li
author_facet	Yajuan Chu Jinfeng Shuai Kunling Huang Jianhua Liu Wenshan Lv Baochi Li
author_sort	Yajuan Chu
title	Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China
title_short	Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China
title_full	Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China
title_fullStr	Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China
title_full_unstemmed	Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China
title_sort	analysis of clinical manifestations, imaging features, and gene mutation characteristics of 6 children with cystic fibrosis in china
publisher	Hindawi Limited
publishDate	2021
url	https://doaj.org/article/3e39767058884aeebe84418f768f4b24
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Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China

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