{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T18:12:05Z","timestamp":1757614325774,"version":"3.44.0"},"reference-count":70,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T00:00:00Z","timestamp":1757030400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the glucocerebrosidase1 (<jats:italic>GBA1<\/jats:italic>) gene. Reports on the clinical presentations of various types of GD in Chinese children are scarce, and there is limited research addressing co-occurrence of GD with bacterial (including tuberculosis), viral, or fungal, infections. Pediatric GD typically manifests with greater severity due to developmental vulnerability of organ systems and immature immunity, leading to heightened infection risks. Unlike non-GD children, those with GD exhibit multiorgan involvement (e.g., hepatosplenomegaly, cytopenias) that predisposes them to opportunistic infections. In this study, we describe the clinical features and infection risks associated with different types of GD in Chinese children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study was done in Children's hospital of Chongqing Medical University. Seventeen patients aged &amp;lt;18 years, diagnosed with GD from January 2008 to December 2019, were enrolled. Clinical symptoms, laboratory results, mutation genotypes, and imaging data were collected for analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 17 patients, 9 were diagnosed with Type 2 GD, while 4 each had Type 1 and 3 GD. Median (interquartile range) age of onset was 7 (3.0\u201318.5) months. Approximately two-thirds of patients experienced malnutrition, and most exhibited hepatosplenomegaly and hematological abnormalities. Anemia was the most frequent hematological disorder, followed by thrombocytopenia, with almost half developing leukopenia. Liver function abnormalities were common, particularly in Type 2 GD, and characterized by elevated aspartate aminotransferase and glutamyl transpeptidase levels, prolonged prothrombin time, and decreased albumin. Patients with Type 2 GD had increased susceptibility to infections, with respiratory failure from severe infections a leading cause of death. Genome sequencing revealed a novel deletion mutation (c.787_c.788 delAA) in the <jats:italic>GBA1<\/jats:italic> gene associated with Type 2 GD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In pediatric patients with Gaucher disease, Type 1 GD is associated with worse hematological impairment, while Type 2 GD involves significant hepatic insufficiency and heightened susceptibility to infections.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2025.1595394","type":"journal-article","created":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T05:25:18Z","timestamp":1757049918000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical features and infection risks of Chinese children with different types of Gaucher disease"],"prefix":"10.3389","volume":"13","author":[{"given":"Chuan","family":"Gan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanyuan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Qin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,9,5]]},"reference":[{"key":"B1","first-page":"1993","article-title":"Gaucher disease","volume-title":"GeneReviews\u00ae","author":"Pastores","year":"2000"},{"key":"B2","doi-asserted-by":"publisher","first-page":"441","DOI":"10.3390\/ijms18020441","article-title":"A review of Gaucher disease pathophysiology, clinical presentation and treatments","volume":"18","author":"Stirnemann","year":"2017","journal-title":"Int J Mol Sci"},{"key":"B3","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1111\/bjh.12804","article-title":"Gaucher disease: haematological presentations and complications","volume":"165","author":"Thomas","year":"2014","journal-title":"Br J Haematol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.ymgme.2016.11.006","article-title":"Gaucher disease: progress and ongoing challenges","volume":"120","author":"Mistry","year":"2017","journal-title":"Mol Genet Metab"},{"key":"B5","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1016\/j.cbpa.2019.10.006","article-title":"Glycosphingolipids and lysosomal storage disorders as illustrated by Gaucher disease","volume":"53","author":"Aerts","year":"2019","journal-title":"Curr Opin Chem Biol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1002\/ajh.20908","article-title":"Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention","volume":"82","author":"Mistry","year":"2007","journal-title":"Am J Hematol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/j.ymgme.2017.08.002","article-title":"Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians","volume":"122","author":"Mehta","year":"2017","journal-title":"Mol Genet Metab"},{"key":"B8","doi-asserted-by":"publisher","first-page":"136","DOI":"10.4274\/tjh.galenos.2022.2021.0683","article-title":"Gaucher disease for hematologists","volume":"39","author":"\u00d6zdemir","year":"2022","journal-title":"Turk J Haematol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.ymgme.2022.03.001","article-title":"The diagnosis and management of Gaucher disease in pediatric patients: where do we go from here?","volume":"136","author":"Weinreb","year":"2022","journal-title":"Mol Genet Metab"},{"key":"B10","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1186\/s13023-021-01963-6","article-title":"Economic burden and health related quality of life of ultra-rare Gaucher disease in China","volume":"16","author":"Qi","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"B11","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1016\/j.humimm.2015.11.018","article-title":"CD4? 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