徐丽梨, 王伟铭 . 特发性肾性低尿酸血症相关的急性肾衰竭一例报告及文献复习[J]. 诊断学理论与实践, 2021 , 20(02) : 213 -215 . DOI: 10.16150/j.1671-2870.2021.02.017
| [1] | Kaito H, Ishimori S, Nozu K, et al. Molecular background of urate transporter genes in patients with exercise-induced acute kidney injury[J]. Am J Nephrol, 2013, 38(4):316-320. |
| [2] | Enomoto A, Kimura H, Chairoungdua A, et al. Molecular identification of a renal urate anion exchanger that regulates blood urate levels[J]. Nature, 2002, 417(6887):447-452. |
| [3] | Anzai N, Ichida K, Jutabha P, et al. Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1(SLC2A9) in humans[J]. J Biol Chem, 2008, 283(40):26834-26838. |
| [4] | Matsuo H, Chiba T, Nagamori S, et al. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia[J]. Am J Hum Genet, 2008, 83(6):744-751. |
| [5] | Ohta T, Sakano T, Igarashi T, et al. Exercise-induced acute renal failure associated with renal hypouricaemia: results of a questionnaire-based survey in Japan[J]. Nephrol Dial Transplant, 2004, 19(6):1447-1453. |
| [6] | Waring WS, McKnight JA, Webb DJ, et al. Uric acid restores endothelial function in patients with type 1 diabetes and regular smokers[J]. Diabetes, 2006, 55(11):3127-3132. |
| [7] | Sperling O. Hereditary renal hypouricemia[J]. Mol Genet Metab, 2006, 89(1-2):14-18. |
| [8] | Kim HO, Ihm CG, Jeong KH, et al. A case report of familial renal hypouricemia confirmed by genotyping of SLC22A12, and a literature review[J]. Electrolyte Blood Press, 2015, 13(2):52-57. |
| [9] | Cha DH, Gee HY, Cachau R, et al. Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes[J]. Sci Rep, 2019, 9(1):14360. |
| [10] | Li Z, Ding H, Chen C, et al. Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia[J]. Gene, 2013, 512(1):97-101. |
| [11] | 朱虹, 徐燕林, 牟利军. 特发性肾性低尿酸血症相关的运动诱发急性肾衰竭一例[J]. 中华急诊医学杂志, 2018, 27(10):1169-1171. |
| [12] | Ichida K, Hosoyamada M, Hisatome I, et al. Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion[J]. J Am Soc Nephrol, 2004, 15(1):164-173. |
| [13] | Stiburkova B, Sebesta I, Ichida K, et al. Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis[J]. Eur J Hum Genet, 2013, 21(10):1067-1073. |
| [14] | Misawa K, Hasegawa T, Mishima E, et al. Contribution of rare variants of the SLC22A12 gene to the missing heritability of serum urate levels[J]. Genetics, 2020, 214(4):1079-1090. |
| [15] | Stiburkova B, Taylor J, Marinaki AM, et al. Acute kidney injury in two children caused by renal hypouricaemia type 2[J]. Pediatr Nephrol, 2012, 27(8):1411-1415. |
| [16] | 周岩, 周玉超, 刘志红, 等. 低尿酸血症、运动后尿量减少、血清肌酐升高[J]. 肾脏病与透析肾移植杂志, 2016, 25(6):579-783. |
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