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

Yajuan Chu,Baochi Li,Jianhua Liu,Jinfeng Shuai,Kunling Huang,Wenshan Lv

doi:10.1155/2021/7254391

Abstract

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.

Highlights

Cystic fibrosis (CF) is an autosomal recessive genetic disease, and it is the deficiency of CF transmembrane conductance regulator (CFTR) protein function caused by the mutation of CFTR gene [1]
CF can cause a large amount of mucus to block the exocrine glands of the body, which can affect multiple systems such as respiration, digestion, and reproduction. e clinical manifestations of CF include chronic cough, cough up a lot of sputum, recurrent pulmonary infection, steatosis, growth retardation, and male infertility [2, 3]. e CFTR gene is located in the first band of the third region of the long arm of chromosome 7 and contains 27 exons
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

Summary

Introduction

Cystic fibrosis (CF) is an autosomal recessive genetic disease, and it is the deficiency of CF transmembrane conductance regulator (CFTR) protein function caused by the mutation of CFTR gene [1]. CF is one of the common hereditary diseases in the Caucasian population, and the incidence rate is 1/1800 to 1/25000 [5]. E previous incidence of CF in China is likely to be underestimated due to insufficient understanding and imperfect detection technology. In recent years, with the improvement of clinicians’ understanding of CF and the development of gene detection technology, the Evidence-Based Complementary and Alternative Medicine diagnosis rate of CF increases year by year. If clinicians have insufficient knowledge of CF and imperfect detection methods, this may cause delay in diagnosis and treatment

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Conclusion