山东大学学报 (医学版) ›› 2023, Vol. 61 ›› Issue (11): 116-120.doi: 10.6040/j.issn.1671-7554.0.2023.0449
高辉香,宋阳
中图分类号:
| [1] Vahe C, Benomar K, Espiard S, et al. Diseases associated with calcium-sensing receptor[J]. Orphanet J Rare Dis, 2017, 12(1): 19. doi:10.1186/s13023-017-0570-z. [2] Hendy GN, DSouza-Li L, Yang B, et al. Mutations of the calcium-sensing receptor(CASR)in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia[J]. Hum Mutat, 2000, 16(4): 281-296. [3] Hannan FM, Kallay E, Chang WH, et al. The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases[J]. Nat Rev Endocrinol, 2018, 15(1): 33-51. [4] Hannan FM, Babinsky VN, Thakker RV. Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis[J]. J Mol Endocrinol, 2016, 57(3): R127-R142. [5] Rasmussen AQ, Jørgensen NR, Schwarz P. Identification and functional characterization of a novel mutation in the human calcium-sensing receptor that co-segregates with autosomal-dominant hypocalcemia[J]. Front Endocrinol, 2018, 9: 200. doi:10.3389/fendo.2018.00200. [6] Tfelt-Hansen J, Schwarz P, Brown EM, et al. The calcium-sensing receptor in human disease[J]. Front Biosci, 2003, 8: s377-s390. doi: 10.2741/1068. [7] Kinoshita Y, Hori M, Taguchi M, et al. Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia[J]. J Clin Endocrinol Metab, 2014, 99(2): E363-E368. [8] Roszko KL, Bi RD, Mannstadt M. Autosomal dominant hypocalcemia(hypoparathyroidism)types 1 and 2[J]. Front Physiol, 2016, 7: 458. doi:10.3389/fphys.2016.00458. [9] Gomes V, Silvestre C, Ferreira F, et al. Autosomal dominant hypocalcaemia: identification of two novel variants of CASR gene[J]. BMJ Case Rep, 2020, 13(6): e234391. doi:10.1136/bcr-2020-234391. [10] Hauache OM, Hu J, Ray K, et al. Effects of a calcimimetic compound and naturally activating mutations on the human Ca2+ receptor and on Ca2+ receptor/metabotropic glutamate chimeric receptors[J]. Endocrinology, 2000, 141(11): 4156-4163. [11] Abate EG, Clarke BL. Review of hypoparathyroidism[J]. Front Endocrinol, 2017, 7: 172. doi:10.3389/fendo.2016.00172. [12] Winer KK, Kelly A, Johns A, et al. Long-term parathyroid hormone 1-34 replacement therapy in children with hypoparathyroidism[J]. J Pediatr, 2018, 203: 391-399.e1. doi:10.1016/j.jpeds.2018.08.010. [13] Mittelman SD, Hendy GN, Fefferman RA, et al. A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone[J]. J Clin Endocrinol Metab, 2006, 91(7): 2474-2479. [14] Sanda S, Schlingmann KP, Newfield RS. Autosomal dominant hypoparathyroidism with severe hypomagnesemia and hypocalcemia, successfully treated with recombinant PTH and continuous subcutaneous magnesium infusion[J]. J Pediatr Endocrinol Metab, 2008, 21(4): 385-391. [15] Winer KK, Fulton KA, Albert PS, et al. Effects of pump versus twice-daily injection delivery of synthetic parathyroid hormone 1-34 in children with severe congenital hypoparathyroidism[J]. J Pediatr, 2014, 165(3): 556-563. [16] Shiohara M, Shiozawa R, Kurata K, et al. Effect of parathyroid hormone administration in a patient with severe hypoparathyroidism caused by gain-of-function mutation of calcium-sensing receptor[J]. Endocr J, 2006, 53(6): 797-802. [17] Newfield RS. Recombinant PTH for initial management of neonatal hypocalcemia[J]. N Engl J Med, 2007, 356(16): 1687-1688. [18] Winer KK, Sinaii N, Peterson D, et al. Effects of once versus twice-daily parathyroid hormone 1-34 therapy in children with hypoparathyroidism[J]. J Clin Endocrinol Metab, 2008, 93(9): 3389-3395. [19] Theman TA, Collins MT, Dempster DW, et al. PTH(1-34)replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation[J]. J Bone Miner Res, 2009, 24(5): 964-973. [20] Fox A, Gilbert R. Use of teriparatide in a four year old patient with autosomal dominant hypocalcaemia[J]. Arch Dis Child, 2016, 101(9): e2. doi:10.1136/archdischild-2016-311535.66. [21] Vargas-Poussou R, Huang CF, Hulin P, et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome[J]. J Am Soc Nephrol, 2002, 13(9): 2259-2266. [22] Mayr B, Schnabel D, Dörr HG, et al. GENETICS IN ENDOCRINOLOGY: gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts[J]. Eur J Endocrinol, 2016, 174(5): R189-R208. [23] Sato K, Hasegawa Y, Nakae J, et al. Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene[J]. J Clin Endocrinol Metab, 2002, 87(7): 3068-3073. [24] Hu JX, Mora S, Weber G, et al. Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor[J]. J Bone Miner Res, 2004, 19(4): 578-586. [25] Bilezikian JP, Brandi ML, Cusano NE, et al. Management of hypoparathyroidism: present and future[J]. J Clin Endocrinol Metab, 2016, 101(6): 2313-2324. [26] Ikari A, Okude C, Sawada H, et al. Activation of a polyvalent cation-sensing receptor decreases magnesium transport via claudin-16[J]. Biochim Biophys Acta, 2008, 1778(1): 283-290. [27] Ferrè S, Hoenderop JGJ, Bindels RJM. Sensing mechanisms involved in Ca2+ and Mg2+ homeostasis[J]. Kidney Int, 2012, 82(11): 1157-1166. [28] Dayal D, Gupta A, Gupta S, et al. Recombinant parathyroid hormone for hypoparathyroidism in children: a narrative review[J]. Pediatr Endocrinol Diabetes Metab, 2019, 25(4): 194-201. [29] Vahle JL, Zuehlke U, Schmidt A, et al. Lack of bone neoplasms and persistence of bone efficacy in Cynomolgus macaques after long-term treatment with teriparatide[rhPTH(1-34)] [J]. J Bone Miner Res, 2008, 23(12): 2033-2039. [30] Vahle JL, Sato M, Long GG, etal. Skeletal changes in rats given daily subcutaneous injections of recombinant human parathyroid hormone(1-34)for 2 years and relevance to human safety[J]. Toxicol Pathol, 2002, 30(3): 312-321. [31] Mayr B, Glaudo M, Schöfl C. Activating calcium-sensing receptor mutations: prospects for future treatment with calcilytics[J]. Trends Endocrinol Metab, 2016, 27(9): 643-652. [32] Nakamura A, Hotsubo T, Kobayashi K, et al. Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143[J]. J Clin Endocrinol Metab, 2013, 98(10): E1692-E1701. |
| [1] | 李东梅,边天帅,王晓华,张静,赵炎,孙素芬,牟鸿,许安廷. 儿童前庭神经炎的前庭诱发肌源性电位结果[J]. 山东大学学报 (医学版), 2026, 64(4): 38-43. |
| [2] | 孙红林,管玉强,于培儒,李磊,杜庆霞,丁浩. 支架植入治疗儿童主动脉缩窄并高血压的可行性及近中期疗效[J]. 山东大学学报 (医学版), 2026, 64(4): 58-62. |
| [3] | 况利,徐何雁. 从精准评估到整合干预:儿童青少年心理健康问题诊疗范式的革新与展望[J]. 山东大学学报 (医学版), 2026, 64(3): 10-16. |
| [4] | 李芳华,刘娜,李晓宇,许殿花,王倩. 儿童青少年抑郁障碍患者服药依从性研究进展[J]. 山东大学学报 (医学版), 2026, 64(3): 24-34. |
| [5] | 孙佳丽,王亮,王长凤,张杰,郭磊. Klippel-Trenaunay综合征儿童情绪与行为特征及其影响因素[J]. 山东大学学报 (医学版), 2026, 64(3): 78-82. |
| [6] | 王倩,胡晓婧,王爱青,孙强,孟春燕,李芳华. 儿童青少年抑郁障碍患者非自杀性自伤文献的可视化分析[J]. 山东大学学报 (医学版), 2026, 64(3): 93-107. |
| [7] | 王悦祺,宋东玉,李玉丽,谢昊,张月蓉. 儿童困难问题和亲社会行为在家庭弹性与祖辈隔代教养压力间的中介作用[J]. 山东大学学报 (医学版), 2026, 64(1): 57-64. |
| [8] | 张政,王建伟,杨玉娟,张宇,宋西成. 哮喘儿童2008及2019年免疫球蛋白E变化及相关危险因素[J]. 山东大学学报 (医学版), 2025, 63(7): 32-36. |
| [9] | 曹洛菲,王珊珊,王金荣,姜荷云,苗瑜,马光增. 哮喘发作期FeNO升高儿童肺功能舒张试验的特点分析[J]. 山东大学学报 (医学版), 2025, 63(6): 38-44. |
| [10] | 陈绪军, 何国伟. 着力进一步推进动脉桥在我国冠心病冠脉旁路移植术中的应用[J]. 山东大学学报 (医学版), 2025, 63(5): 1-5. |
| [11] | 莫绪明,王庆峰. 冠状动脉旁路移植术在儿童心血管疾病中的应用[J]. 山东大学学报 (医学版), 2025, 63(5): 40-46. |
| [12] | 李玲,闫宇晗,孔清玉,王敏敏,赵海招,赵翠芬. 直立不耐受症状评分及儿茶酚胺与血管迷走性晕厥患儿情绪障碍的相关性[J]. 山东大学学报 (医学版), 2025, 63(5): 71-78. |
| [13] | 王梦园,张春艳,于文文,寇琳娜,王世富. 2018—2021年山东省儿童与成人临床分离真菌的构成与主要菌种的体外抗真菌药物敏感性监测[J]. 山东大学学报 (医学版), 2025, 63(4): 83-93. |
| [14] | 龚蓉,崔乃雪,陈恺悦,赵佳,单瑞洁,张训琪. 体感游戏在儿童癌症幸存者中的应用[J]. 山东大学学报 (医学版), 2025, 63(4): 94-99. |
| [15] | 史文新,樊幼君,陈元,刘海燕,孙立锋,郭璐. 小儿乳糜泻2例并文献复习[J]. 山东大学学报 (医学版), 2025, 63(2): 51-57. |
|
||
