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Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.
Xia, Yu; Zheng, Wanqi; Du, Taozi; Gong, Zizhen; Liang, Lili; Wang, Ruifang; Yang, Yi; Zhang, Kaichuang; Lu, Deyun; Chen, Xiaohong; Sun, Yuning; Sun, Yu; Xiao, Bing; Qiu, Wenjuan.
Affiliation
  • Xia Y; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu).
  • Zheng W; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu).
  • Du T; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu).
  • Gong Z; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu).
  • Liang L; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu).
  • Wang R; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu).
  • Yang Y; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu).
  • Zhang K; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu).
  • Lu D; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu).
  • Chen X; Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China (Dr Chen).
  • Sun Y; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu).
  • Sun Y; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu); Depar
  • Xiao B; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu); Depar
  • Qiu W; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, 1665 KongJiang Road, Shanghai 200092, China (Drs Xia, Zheng, Du, Gong, Liang, Wang, Yang, Zhang, Lu, Sun, Sun, Xiao, Qiu). Elect
J Clin Lipidol ; 17(6): 808-817, 2023.
Article de En | MEDLINE | ID: mdl-37858495
BACKGROUND: Lipoprotein lipase (LPL) deficiency, the most common familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disease characterized by chylomicronemia and severe hypertriglyceridemia (HTG), with limited clinical and genetic characterization. OBJECTIVE: To describe the manifestations and management of 19 pediatric patients with LPL-FCS. METHODS: LPL-FCS patients from 2014 to 2022 were divided into low-fat (LF), very-low-fat (VLF) and medium-chain-triglyceride (MCT) groups. Their clinical data were evaluated to investigate the effect of different diets. The genotype-phenotype relationship was assessed. Linear regression comparing long-chain triglyceride (LCT) intake and TG levels was analyzed. RESULTS: Nine novel LPL variants were identified in 19 LPL-FCS pediatric patients. At baseline, eruptive xanthomas occurred in 3/19 patients, acute pancreatitis in 2/19, splenomegaly in 6/19 and hepatomegaly in 3/19. The median triglyceride (TG) level (30.3 mmol/L) was markedly increased. The MCT group and VLF group with LCT intakes <20 en% (energy percentage) had considerably lower TG levels than the LF group (both p<0.05). The LF group presented with severe HTG and significantly decreased TG levels after restricting LCT intakes to <20 en% (p<0.05). Six infants decreased TG levels to <10 mmol/L by keeping LCT intake <10 en%. TG levels and LCT intake were positively correlated in both patients under 2 years (r=0.84) and those aged 2-9 years (r=0.89). No genotype-phenotype relationship was observed. CONCLUSIONS: This study broadens the clinical and genetic spectra of LPL-FCS. The primary therapy for LPL-FCS pediatric patients is restricting dietary LCTs to <10 en% or <20 en% depending on different ages. MCTs potentially provide extra energy.
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Pancréatite / Hypertriglycéridémie / Hyperlipoprotéinémie de type I Limites: Child / Humans / Infant Pays/Région comme sujet: Asia Langue: En Journal: J Clin Lipidol Sujet du journal: BIOQUIMICA / METABOLISMO Année: 2023 Type de document: Article Pays de publication: États-Unis d'Amérique

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Pancréatite / Hypertriglycéridémie / Hyperlipoprotéinémie de type I Limites: Child / Humans / Infant Pays/Région comme sujet: Asia Langue: En Journal: J Clin Lipidol Sujet du journal: BIOQUIMICA / METABOLISMO Année: 2023 Type de document: Article Pays de publication: États-Unis d'Amérique