儿童遗传代谢病急性期的营养管理
Nutritional management in acute illness of children with inborn errors of metabolism
Received date: 2023-05-09
Online published: 2023-06-12
邱文娟 , 杜陶子 , 夏瑜 . 儿童遗传代谢病急性期的营养管理[J]. 临床儿科杂志, 2023 , 41(6) : 401 -405 . DOI: 10.12372/jcp.2023.23e0366
Inborn errors of metabolism (IEMs) are a group of monogenic diseases caused by defects in enzyme, receptor, cofactor or transporter during biochemical metabolism of amino acids, carbohydrates, organic acids, fatty acids and mitochondrial energy metabolism. The metabolic emergencies due to disorders in IEM leads to high mortality and disability rates in children. Improving nutrition management in acute illness is of great significance to the prognosis of IEM. Based on the latest guidelines and expert consensus of IEM at home and abroad, combined with clinical practice, we introduced the principles and protocols of nutrition management in the acute illness of IEM, which aims to improve the nutrition management and long-term prognosis of IEM.
| [1] | Ezgu F. Inborn errors of metabolism[J]. Adv Clin Chem, 2016, 73: 195-250. |
| [2] | Sanderson S, Green A, Preece MA, et al. The incidence of inherited metabolic disorders in the West Midlands, UK[J]. Arch Dis Child, 2006, 91 (11): 896-899. |
| [3] | Joint WHO/FAO/UNU Expert Consultation. Protein and amino acid requirements in human nutrition[R]. World Health Organ Tech Rep Ser, 2007, 935: 1-265. |
| [4] | Van Calcar SC, Sowa M, Rohr F, et al. Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): an evidence- and consensus-based approach[J]. Mol Genet Metab, 2020, 131 (1-2): 23-37. |
| [5] | Alfadhel M, Al-Thihli K, Moubayed H, et al. Drug treatment of inborn errors of metabolism: a systematic review[J]. Arch Dis Child, 2013, 98 (6):454-461. |
| [6] | Baumgartner MR, Horster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia[J]. Orphanet J Rare Dis, 2014, 9: 130. |
| [7] | Jurecki E, Ueda, K, Frazier D, et al. Nutrition management guideline for propionic acidemia: an evidence- and consensus-based approach[J]. Mol Genet Metab, 2019, 126 (4): 341-354. |
| [8] | Boy N, Muhlhausen C, Maier EM, et al. Proposed recom-mendations for diagnosing and managing individuals with glutaric aciduria type I: second revision[J]. J Inherit Metab Dis, 2017, 40 (1): 75-101. |
| [9] | 顾学范, 韩连书, 余永国. 中国新生儿遗传代谢病筛查现状及展[J]. 罕见病研究, 2022, 1(1): 13-19. |
| [10] | Blackburn PR, Gass JM, Vairo FPE, et al. Maple syrup urine disease: mechanisms and management.[J]. Appl Clin Genet, 2017, 10: 57-66. |
| [11] | Frazier DM, Allgeier C, Homer C, et al. Nutrition mana-gement guideline for maple syrup urine disease: an evidence- and consensus-based approach[J]. Mol Genet Metab, 2014, 112 (3): 210-217. |
| [12] | Strauss KA, Carson VJ, Soltys K, et al. Branched-chain alpha-ketoacid dehydrogenase deficiency (maple syrup urine disease): treatment, biomarkers, and outcomes[J]. Mol Genet Metab, 2020, 129 (3): 193-206. |
| [13] | H?berle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision[J]. J Inherit Metab Dis, 2019, 42 (6): 1192-1230. |
| [14] | 中国医师协会医学遗传医师分会临床生化专业委员会, 中华医学会儿科学分会内分泌遗传代谢学组, 中国妇幼保健协会儿童疾病和保健分会遗传代谢学组, 等. 中国尿素循环障碍诊断治疗和管理指南[J]. 中华儿科杂志, 2022, 60 (11): 1118-1126. |
| [15] | 中国妇幼保健协会出生缺陷防治与分子遗传分会, 中国妇幼保健协会儿童早期发展专业委员会, 中国妇幼保健协会儿童疾病和保健分会遗传代谢学组, 等. 糖原累积病Ⅰa型的诊断治疗和预防专家共识[J]. 中国实用儿科杂志, 2022, 37 (9): 641-649. |
| [16] | Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American college of medical genetics and genomics[J]. Genet Med, 2014, 16 (11): e1. |
| [17] | Parikh S, Goldstein A, Koenig MK., et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society[J]. Genet Med, 2015, 17 (9): 689-701. |
| [18] | Sue CM, Balasubramaniam S, Bratkovic D, et al. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the mitochondrial medicine society recommendations[J]. Intern Med J, 2022, 52 (1): 110-120. |
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