loading page

Clinical and Genetic Characteristics of 111 Children Diagnosed by Gene Testing in the Pediatric Digestive Department: A Single-Center Retrospective Analysis
  • Jian Li,
  • Mei Sun,
  • Jing Guo
Jian Li
Shengjing Hospital of China Medical University
Author Profile
Mei Sun
Shengjing Hospital of China Medical University
Author Profile
Jing Guo
Shengjing Hospital of China Medical University

Corresponding Author:[email protected]

Author Profile

Abstract

With the development of medicine, the change of disease spectrum and the improvement of diagnosis and treatment, some hereditary diseases are increasingly appearing in the diagnosis of pediatric diseases. We retrospectively analyzed the clinical data and genetic results of 111 children who met the inclusion criteria and visited the research center from January 2015 to December 2019, to improve the clinical awareness of gene detection for the early and accurate diagnosis of hereditary metabolic diseases. The average age of participants who underwent gene testing was 2.45 ± 2.80 years (male:female 1.58:1). The clinical manifestations and laboratory indicators of two children with Wilson’s disease (WD) were atypical and were finally confirmed by gene testing. One of the 15 patients with glycogen storage disease (GSD) had a rare type of GSD XV. Among nine children with Alagille syndrome, 75.0% and 11.1% had new mutations in JAG1 and NOTCH2, respectively. Among nine children with a mutation in UGT1A1, c.211G>A and TATA box mutation sites were the most common. c.851_854del was the most common mutation in Citrin deficiency disease. Progressive familial intrahepatic cholestasis (PFIC) 2 accounted for 66.7% of the nine children with PFIC. The most common mutation in the 14 very early-onset inflammatory bowel disease (VEO-IBD) cases was c.301C>T (p.R101W), followed by c.537G>A (p.T179T). In conclusion, early gene detection can provide accurate diagnosis, precise treatment, and improve disease prognosis for children with atypical clinical symptoms and insignificant changes in biochemical indicators for common genetic metabolic diseases in the pediatric digestive system.