儿童单基因糖尿病诊治进展及诊断策略

doi:10.16150/j.1671-2870.2021.03.001

摘要/Abstract

中图分类号:

R729

章淼滢, 罗飞宏. 儿童单基因糖尿病诊治进展及诊断策略[J]. 诊断学理论与实践, 2021, 20(03): 229-232.

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参考文献 29

[1]	Misra S, Owen KR. Genetics of monogenic diabetes: present clinical challenges[J]. Curr Diab Rep, 2018, 18(12):141. doi: 10.1007/s11892-018-1111-4 URL
[2]	Lemelman MB, Letourneau L, Greeley SAW. Neonatal diabetes mellitus: an update on diagnosis and management[J]. Clin Perinatol, 2018, 45(1):41-59. doi: 10.1016/j.clp.2017.10.006
[3]	Hattersley AT, Greeley SAW, Polak M, et al. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents[J]. Pediatr Diabetes, 2018, 19(Suppl 27):47-63. doi: 10.1111/pedi.12772 URL
[4]	Harris AG, Letourneau LR, Greeley SAW. Monogenic diabetes: the impact of making the right diagnosis[J]. Curr Opin Pediatr, 2018, 30(4):558-567. doi: 10.1097/MOP.0000000000000643 URL
[5]	Nansseu JR, Ngo-Um SS, Balti EV. Incidence, prevalence and genetic determinants of neonatal diabetes mellitus: a systematic review and meta-analysis protocol[J]. Syst Rev, 2016, 5(1):188. doi: 10.1186/s13643-016-0369-3 pmid: 27832816
[6]	Jacobs E, Tamayo T, Rathmann W. Epidemiologie des diabetes in Deutschland[J]. Dtsch Gesundheitsbericht Diabetes, 2017, 2017:10-21.
[7]	Broome DT, Pantalone KM, Kashyap SR, et al. Approach to the patient with MODY-monogenic diabetes[J]. J Clin Endocrinol Metab, 2021, 106(1):237-250. doi: 10.1210/clinem/dgaa710 pmid: 33034350
[8]	Shepherd M, Shields B, Hammersley S, et al. Systematic population screening, using biomarkers and genetic tes-ting, identifies 2.5% of the U.K. pediatric diabetes popu-lation with monogenic diabetes[J]. Diabetes Care, 2016, 39(11):1879-1888. pmid: 27271189
[9]	Dahl A, Kumar S. Recent advances in neonatal diabetes[J]. Diabetes Metab Syndr Obes, 2020, 13:355-364. doi: 10.2147/DMSO.S198932 URL
[10]	Yahaya TO, Ufuoma SB. Genetics and pathophysiology of maturity-onset diabetes of the young (MODY): a review of current trends[J]. Oman Med J, 2020, 35(3):e126. doi: 10.5001/omj.2020.44 URL
[11]	Firdous P, Nissar K, Ali S, et al. Genetic testing of maturity-onset diabetes of the young current status and future perspectives[J]. Front Endocrinol (Lausanne), 2018, 9:253. doi: 10.3389/fendo.2018.00253 URL
[12]	Sharari S, Abou-Alloul M, Hussain K, et al. Fanconi-bickel syndrome: a review of the mechanisms that lead to dysglycaemia[J]. Int J Mol Sci, 2020, 21(17):6286. doi: 10.3390/ijms21176286 URL
[13]	Sun C, Pei Z, Zhang M, et al. Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation[J]. J Diabetes, 2018, 10(1):50-58. doi: 10.1111/1753-0407.12556 URL
[14]	Wang X, Sterr M, Burtscher I, et al. Genome-wide analysis of PDX1 target genes in human pancreatic progenitors[J]. Mol Metab, 2018, 9:57-68. doi: 10.1016/j.molmet.2018.01.011 URL
[15]	Trott J, Alpagu Y, Tan EK, et al. Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6[J]. Development, 2020, 147(21):dev194878.
[16]	Solorzano-Vargas RS, Bjerknes M, Wang J, et al. Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus[J]. JCI Insight, 2020, 5(1):e127657. doi: 10.1172/jci.insight.127657 URL
[17]	Hancili S, Bonnefond A, Philippe J, et al. A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome[J]. Pediatr Diabetes, 2018, 19(3):381-387. doi: 10.1111/pedi.12576 pmid: 28940958
[18]	Girard R, Darsigny M, Jones C, et al. HNF4α is a novel regulator of intestinal glucose-dependent insulinotropic polypeptide[J]. Sci Rep, 2019, 9(1):4200 doi: 10.1038/s41598-019-41061-z URL
[19]	Letourneau LR, Greeley SAW. Congenital forms of diabetes: the beta-cell and beyond[J]. Curr Opin Genet Dev, 2018, 50:25-34. doi: S0959-437X(17)30131-4 pmid: 29454299
[20]	Jamee M, Zaki-Dizaji M, Lo B, et al. Clinical, immunological, and genetic features in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-like syndrome[J]. J Allergy Clin Immunol Pract, 2020, 8(8):2747-2760,e7. doi: 10.1016/j.jaip.2020.04.070 URL
[21]	Delvecchio M, Iacoviello M, Pantaleo A, et al. Clinical spectrum associated with wolfram syndrome type 1 and type 2: a review on genotype-phenotype correlations[J]. Int J Environ Res Public Health, 2021, 18(9):4796. doi: 10.3390/ijerph18094796 URL
[22]	Gaál Z, Balogh I. Monogenic forms of diabetes mellitus[J]. Exp Suppl, 2019, 111:385-416.
[23]	American Diabetes Association. 2. Classification and dia-gnosis of diabetes: standards of medical care in diabetes-2020[J]. Diabetes Care, 2020, 43(Suppl 1):S14-S31. doi: 10.2337/dc20-S002 URL
[24]	中华医学会儿科学分会内分泌遗传代谢学组. 儿童单基因糖尿病临床诊断与治疗专家共识[J]. 中华儿科杂志, 2019, 57(7):508-514.
[25]	Zhang M, Chen X, Shen S, et al. Sulfonylurea in the treatment of neonatal diabetes mellitus children with hete-rogeneous genetic backgrounds[J]. J Pediatr Endocrinol Metab, 2015, 28(7-8):877-884.
[26]	Beltrand J, Elie C, Busiah K, et al. Sulfonylurea therapy benefits neurological and psychomotor functions in patients with neonatal diabetes owing to potassium channel mutations[J]. Diabetes Care, 2015, 38(11):2033-2041. doi: 10.2337/dc15-0837 pmid: 26438614
[27]	Huang Q, Liu X, Zhang Y, et al. Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome[J]. J Genet Genomics, 2020, 20, 47(1):17-26.
[28]	Ortigoza-Escobar JD, Molero-Luis M, Arias A, et al. Treatment of genetic defects of thiamine transport and metabolism[J]. Expert Rev Neurother, 2016, 16(7):755-763. doi: 10.1080/14737175.2016.1187562 pmid: 27191787
[29]	Mohan V, Radha V. Precision Diabetes Is slowly beco-ming a Reality[J]. Med Princ Pract, 2019, 28(1):1-9. doi: 10.1159/000497241 URL

儿童单基因糖尿病诊治进展及诊断策略

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