您的位置:山东大学 -> 科技期刊社 -> 《山东大学学报(医学版)》

山东大学学报 (医学版) ›› 2024, Vol. 62 ›› Issue (2): 120-124.doi: 10.6040/j.issn.1671-7554.0.2023.1137

• 病例报道 • 上一篇    

青年合并骨质疏松的Gitelman综合征1例

王璐瑶1,2,胡晓琳2,孙佩2,董振华2,逄曙光1,2   

  1. 1.山东第二医科大学临床医学院, 山东 潍坊 261053;2.山东第一医科大学附属济南市中心医院内分泌科, 山东 济南 250013
  • 发布日期:2024-03-29
  • 通讯作者: 逄曙光. E-mail:shuguangpang@163.com董振华. E-mail:327515203@qq.com
  • 基金资助:
    国家自然科学基金(81400788);济南市临床医学科技创新计划(201907039);山东省医药卫生科技发展计划(2019WS076);山东省博士后基金(SDCX-ZG-202202004)

  • Published:2024-03-29

关键词: Gitelman综合征, SLC12A3基因, 骨质疏松, 肾功能不全

中图分类号: 

  • R596.1
[1] Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: improving Global Outcomes(KDIGO)Controversies Conference[J]. Kidney Int, 2017, 91(1): 24-33.
[2] Komori H, Yamada K, Tamai I. Hyperuricemia enhances intracellular urate accumulation via down-regulation of cell-surface BCRP/ABCG2 expression in vascular endothelial cells[J]. Biochim Biophys Acta Biomembr, 2018, 1860(5): 973-980.
[3] Glaudemans B, Yntema HG, San-Cristobal P, et al. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome[J]. Eur J Hum Genet, 2012, 20(3): 263-270.
[4] Takeuchi Y, Mishima E, Shima H, et al. Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome[J]. J Am Soc Nephrol, 2015, 26(2): 271-279.
[5] Qi WT, Yin ZN, Liang HT, et al. Na-Cl Co-transporter(NCC)gene inactivation is associated with improved bone microstructure[J]. Osteoporos Int, 2022, 33(10): 2193-2204.
[6] Puttnam R, Davis BR, Pressel SL, et al. Association of 3 different antihypertensive medications with hip and pelvic fracture risk in older adults: secondary analysis of a randomized clinical trial[J]. JAMA Intern Med, 2017, 177(1): 67-76.
[7] Solomon DH, Ruppert K, Zhao Z, et al. Bone mineral density changes among women initiating blood pressure lowering drugs: a SWAN cohort study[J]. Osteoporos Int, 2016, 27(3): 1181-1189.
[8] Nakamura A, Shimizu C, Nagai S, et al. A rare case of Gitelmans syndrome presenting with hypocalcemia and osteopenia[J]. J Endocrinol Invest,2005, 28(5): 464-468.
[9] 陈宗存, 赖舒畅, 王秋怡, 等. 合并骨质疏松且无低血镁的Gitelman综合征1例[J]. 安徽医药, 2023, 27(7): 1353-1355.
[10] Erem S, Atfi A, Razzaque MS. Anabolic effects of vitamin D and magnesium in aging bone[J]. J Steroid Biochem Mol Biol, 2019, 193: 105400. doi: 10.1016/j.jsbmb.2019.105400.
[11] Matias P, ávila G, Ferreira AC, et al. Hypomagnesemia: a potential underlooked cause of persistent vitamin D deficiency in chronic kidney disease[J]. Clin Kidney J, 2023, 16(11): 1776-1785.
[12] Belluci MM, de Molon RS, Rossa C Jr, et al. Severe magnesium deficiency compromises systemic bone mineral density and aggravates inflammatory bone resorption[J]. J Nutr Biochem, 2020, 77: 108301. doi: 10.1016/j.jnutbio.2019.108301.
[13] Shi S, Lu C, Tian H, et al. Primary aldosteronism and bone metabolism: a systematic review and meta-analysis[J]. Front Endocrinol(Lausanne), 2020, 11: 574151.doi: 10.3389/fendo.2020.574151.
[14] 陈瑞晗,陈珺.高盐/肾素-血管紧张素-醛固酮系统与骨代谢[J].中国骨质疏松杂志, 2017,23(11):1518-1522. CHEN Ruihan, CHEN Jun. High salt/renin-angiotensin-aldosterone system and bone metabolism[J].Chinese Journal of Osteoporosis, 2017, 23(11): 1518-1522.
[15] Mo C, Ke J, Zhao D, et al. Role of the renin-angiotensin-aldosterone system in bone metabolism[J]. J Bone Miner Metab, 2020, 38(6): 772-779.
[16] Walsh SB, Unwin E, Vargas-Poussou R, et al. Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome[J]. QJM, 2011, 104(11): 939-944.
[17] Foglia PEG, Bettinelli A, Tosetto C, et al. Cardiac work up in primary renal hypokalaemia-hypomagnesaemia(Gitelman syndrome)[J]. Nephrol Dial Transplant, 2004, 19(6): 1398-1402.
[18] Salcuni AS, Palmieri S, Carnevale V, et al. Bone involvement in aldosteronism[J]. J Bone Miner Res, 2012, 27(10): 2217-2222.
[1] 朱超,孙超,刘绪昌,夏大伟,马春骋,丰荣杰. 3D打印椎间融合器在37例单节段腰椎手术中的应用[J]. 山东大学学报 (医学版), 2023, 61(3): 134-140.
[2] 陈诗鸿,姜冬青,庄向华,李晓博,潘喆,孙爱丽,娄能俊,王殿辉,杜娇娇,宋玉文. 以骨痛为首发表现的原发性胆汁性胆管炎1例[J]. 山东大学学报 (医学版), 2022, 60(8): 98-102.
[3] 吕丽,姜璐,陈诗鸿,庄向华,宋玉文,王殿辉,安文娟,李倩,潘喆. 210例绝经后2型糖尿病发生骨质疏松的相关因素[J]. 山东大学学报 (医学版), 2021, 59(7): 19-25.
[4] 邢小平. 原发性骨质疏松症诊治思考[J]. 山东大学学报 (医学版), 2021, 59(6): 1-4.
[5] 陈诗鸿. 糖皮质激素性骨质疏松症研究进展[J]. 山东大学学报 (医学版), 2021, 59(6): 33-37.
[6] 程晓光,卢艳慧. 男性骨质疏松:一个长期被忽视的问题[J]. 山东大学学报 (医学版), 2021, 59(6): 5-9.
[7] 罗湘杭,周若玙. 骨质疏松的病因及发病机制研究进展[J]. 山东大学学报 (医学版), 2021, 59(6): 10-14.
[8] 李敏启,杜娟,杨盼盼,寇雨莹,柳珊珊. 氧化应激调控骨质疏松症的研究进展[J]. 山东大学学报 (医学版), 2021, 59(6): 16-24.
[9] 杜娇娇,庄向华,陈诗鸿,王雪萌,姜冬青,吴菲,韩晓琳,华梦羽,宋玉文. 绝经后骨质疏松症患者血清IL-31、IL-33表达变化[J]. 山东大学学报 (医学版), 2021, 59(6): 45-50.
[10] 刘萍,宋玉文,王萍,田光伟,郑凤杰,吕丽,杜娇娇,张静,庄向华,陈诗鸿. 维生素D缺乏与2型糖尿病合并抑郁状态的相关性[J]. 山东大学学报 (医学版), 2021, 59(6): 51-56.
[11] 康成为,刘雷,蒲小兵,谭钢,董长超,晏兆魁. 合并亚临床型甲状腺功能减退的骨质疏松症62例患者骨代谢及骨转换标志物水平分析[J]. 山东大学学报 (医学版), 2020, 58(5): 82-86.
[12] 李娜,张志勉. 138例39~81岁体检人员血管钙化指标的关联分析[J]. 山东大学学报 (医学版), 2020, 58(2): 85-89.
[13] 牟维娜,金海燕,于民民,刘元涛. 老年糖尿病合并脊柱结核1例并文献复习[J]. 山东大学学报 (医学版), 2018, 56(12): 109-110.
[14] 徐大霞,侯楠,李晓峰,王闯,孔猛,焦广俊,陈允震. 糖皮质激素性骨质疏松症骨代谢与糖皮质激素用药时间的相关性[J]. 山东大学学报(医学版), 2017, 55(5): 103-107.
[15] 梁璐,梁凯,蒋玲,张晓黎. 两例家族性Gitelman综合征患者基因型和表型特点[J]. 山东大学学报(医学版), 2016, 54(12): 86-89.
Viewed
Full text


Abstract

Cited

  Shared   
  Discussed   
No Suggested Reading articles found!