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\begin{document}

\title{Clinical and Genetic Characteristics of Children with Cystic Fibrosis in
Henan China}



\author[1]{Chunna Xu}%
\author[1]{Yu Tang}%
\author[1]{Lili Dong}%
\author[2]{Yuelin Shen}%
\affil[1]{Zhengzhou Children's Hospital}%
\affil[2]{Beijing Children's Hospital Capital Medical University}%


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  \date{June 17, 2024}


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\begin{abstract}
Background: Despite the growing awareness of Cystic Fibrosis (CF) in
China, few cases have been reported in Henan, which is the most populous
province in the country. This study aimed to describe the clinical
phenotype and genotype of children with CF in Henan. Methods: We
recruited 14 Chinese children with CF who presented to Children's
Hospital affiliated to Zhengzhou University from January 2019 to January
2023. The demographic data, imaging examinations, and laboratory tests
of the patients were reviewed to clarify the clinical phenotype. Whole
exome sequencing was conducted to identify the genotype. Results:
Respiratory diseases were the main clinical manifestation, including
recurrent/persistent pneumonia (85.7\%), sinusitis (71.4\%),
bronchiectasis (71.4\%). CF-related liver disease (CFLD) and pancreatic
insufficiency (PI) were less common (21.4\% each). Infant cases had high
frequency of pseudo-Bartter Syndrome (80.0\%). Chest computed tomography
showed bronchiectasis in older children and air trapping in infant
cases. The most common pathogens in the airway were Pseudomonas
aeruginosa and Staphylococcus aureus (71.4\% respectively). Twenty-four
different CFTR gene variants were detected, including four novel
observations (c.869+3A\textgreater{}T,
c.1064C\textgreater{}G{[}p.Pro355Arg{]}, c.1209+1G\textgreater{}C and
c.1925C\textgreater{}G {[}p.Ser642X{]}). The most common variant was
c.2909G\textgreater{}A (p.Gly970Asp), with a detected rate of 16.7\%.
Conclusion: Children with CF in Henan had varied clinical phenotypes by
age, with respiratory disease being predominant. The most frequent CFTR
gene variant was c.2909G\textgreater{}A(p.Gly970Asp). This study is the
first and most comprehensive one on the clinical phenotype and genotype
of children with CF in Henan, China. We also reported the first CF case
of M. abscessus infection in China.%
\end{abstract}%



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