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一例伴有软骨钙质沉着症的吉特曼综合征。

A case of Gitelman's syndrome with chondrocalcinosis.

作者信息

Hisakawa N, Yasuoka N, Itoh H, Takao T, Jinnouchi C, Nishiya K, Hashimoto K

机构信息

Second Department of Internal Medicine, Kochi Medical School, Japan.

出版信息

Endocr J. 1998 Apr;45(2):261-7. doi: 10.1507/endocrj.45.261.

DOI:10.1507/endocrj.45.261
PMID:9700481
Abstract

A 45-year-old Japanese woman, treated for Bartter's syndrome for 14 years, presented with complaints of numbness in her extremities and polyarthralgia. She was diagnosed to have Gitelman's syndrome with chondrocalcinosis, which were effectively treated with spironolactone and magnesium supplementation. Gitelman's syndrome is a primary renal tubular disorder characterized by hypomagnesemia and hypocalciuria with normal calcemia. The persistent hypomagnesemia is one of the causes of chondrocalcinosis, and many cases of Bartter's syndrome with hypomagnesemia are associated with chondrocalcinosis attributed to a tubular magnesium defect. We summarize the reported cases with Bartter's syndrome and chondrocalcinosis, referring to the possibility of Gitelman's syndrome.

摘要

一名45岁的日本女性,因巴特综合征接受治疗14年,出现肢体麻木和多关节痛的症状。她被诊断为吉特林综合征合并软骨钙质沉着症,通过螺内酯和补充镁进行有效治疗。吉特林综合征是一种原发性肾小管疾病,其特征为低镁血症、低钙尿症且血钙正常。持续性低镁血症是软骨钙质沉着症的病因之一,许多伴有低镁血症的巴特综合征病例与肾小管镁缺乏导致的软骨钙质沉着症有关。我们总结了已报道的巴特综合征合并软骨钙质沉着症的病例,并提及了吉特林综合征的可能性。

相似文献

1
A case of Gitelman's syndrome with chondrocalcinosis.一例伴有软骨钙质沉着症的吉特曼综合征。
Endocr J. 1998 Apr;45(2):261-7. doi: 10.1507/endocrj.45.261.
2
Chondrocalcinosis is a feature of Gitelman's variant of Bartter's syndrome. A new look at the hypomagnesemia associated with calcium pyrophosphate dihydrate crystal deposition disease.软骨钙质沉着症是巴特综合征吉特曼变异型的一个特征。对与二水焦磷酸钙晶体沉积病相关的低镁血症的新认识。
Rev Rhum Engl Ed. 1998 Oct;65(10):571-4.
3
[The Gitelman syndrome--a differential diagnosis of Bartter syndrome].[吉特林综合征——巴特综合征的鉴别诊断]
Med Klin (Munich). 1994 Dec 15;89(12):640-4.
4
[Bartter's syndrome, diffuse articular chondrocalcinosis and nephrogenic hypomagnesemia in an adult].[一名成人的巴特综合征、弥漫性关节软骨钙质沉着症和肾性低镁血症]
Rev Med Interne. 1989 May-Jun;10(3):261-4. doi: 10.1016/s0248-8663(89)80013-x.
5
[Hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria; Bartter's syndrome in Gitelman's variant--case report].[伴有低镁血症和低钙尿症的低钾性代谢性碱中毒;吉特曼变异型巴特综合征——病例报告]
Pol Arch Med Wewn. 1995 Nov;94(5):442-6.
6
Gitelman's syndrome first diagnosed as Bartter's syndrome.吉特曼综合征最初被诊断为巴特综合征。
Intern Med. 2001 Oct;40(10):1011-4. doi: 10.2169/internalmedicine.40.1011.
7
Miscellaneous non-inflammatory musculoskeletal conditions. Bartter's and Gitelman's diseases.杂类非炎性肌肉骨骼疾病。巴特氏症候群和吉特曼氏症候群。
Best Pract Res Clin Rheumatol. 2011 Oct;25(5):637-48. doi: 10.1016/j.berh.2011.10.013.
8
Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome.吉特林综合征中低镁血症继发的软骨钙质沉着症。
J Rheumatol. 2005 Sep;32(9):1840-2.
9
[Hypokalemic metabolic alkalosis: apropos of a case of Gitelman's syndrome].[低钾血症性代谢性碱中毒:关于1例吉特曼综合征病例]
Nefrologia. 2004;24 Suppl 3:72-5.
10
[Gitelman syndrome in children: true hypokalemia but false Bartter syndrome].儿童吉特林综合征:真性低钾血症而非假性巴特综合征
Arch Pediatr. 1994 Oct;1(10):916-8.

引用本文的文献

1
Magnesium disorders can cause calcium pyrophosphate deposition disease: A case report and literature review.镁紊乱可导致焦磷酸钙沉积病:一例报告及文献综述。
Eur J Rheumatol. 2018 Mar;5(1):53-57. doi: 10.5152/eurjrheum.2017.16116. Epub 2017 Aug 29.
2
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.新型 NCC 突变体在新一组 Gitelman 综合征患者中的功能分析。
Eur J Hum Genet. 2012 Mar;20(3):263-70. doi: 10.1038/ejhg.2011.189. Epub 2011 Oct 19.
3
Gitelman's syndrome (familial hypokalemia-hypomagnesemia).
吉特曼综合征(家族性低钾血症-低镁血症)
Hippokratia. 2007 Jul;11(3):150-3.
4
Gitelman syndrome: report of three cases and literature review.吉特曼综合征:三例报告及文献综述
Kaohsiung J Med Sci. 2006 Jul;22(7):357-62. doi: 10.1016/S1607-551X(09)70323-7.
5
Clinical trials review: crystal deposition diseases.临床试验综述:晶体沉积病
Curr Rheumatol Rep. 1999 Dec;1(2):97-100. doi: 10.1007/s11926-999-0004-6.