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假性甲状旁腺功能减退症合并甲状腺功能减退1例 被引量:1

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摘要 患者,女,18岁,因间断抽搐1个月于2014年2月12日入院。1个月前无明显诱因出现全身抽搐,伴有肌痛、头痛、恶心、出汗,无呕吐、意识障碍症状,持续30 s左右自行缓解,未予注意;此后上述症状间断出现,3 d前就诊于吉林大学第一医院内分泌代谢科门诊,行脑CT发现大脑多发钙化,测血钙1.32mmol/L。给予补钙后,全身抽搐缓解,但仍间断出现手足抽搐、发麻,持续30 s左右缓解,为明确诊治入我科。
出处 《疑难病杂志》 CAS 2016年第5期531-532,共2页 Chinese Journal of Difficult and Complicated Cases
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参考文献5

  • 1ALBRIGHT F,BURNETT CH,SMITH PH,et al.Pseudohypoparathyroidism:an example of Seabrighl-Bantam syndrome[J].Endocrinology,1942,30:922-932.
  • 2ZENIYA S,YUNO A,WATANABE T.et al.A 22-year-old woman wilh hypocalcemia and clinical features of albright hereditary osteodystrophy diagnosed with sporadic pseudohypoparathyroidism type lb using a methylation-specific multiplex ligation-dependent probe amplification assay[J].Intern Med,2014,S3(9):979-986.
  • 3DONGHI V,MORA S.ZAMPRONI I,et al.Pseudohypoparathyroidism,an often delayed diagnosis:a case series[J].Cases J,2009,2:6734.
  • 4刘林华,林棱,姚瑾,黄惠彬,林纬,梁继兴,温俊平,林丽香,陈刚.假性甲状旁腺功能减退症Ⅰb型并多发性内分泌功能障碍及多器官发育异常的临诊应对[J].中华内分泌代谢杂志,2013,29(10):904-907. 被引量:2
  • 5BALAVOINE A S,LADSOUS M,VELAYOUDOM F L,et al.Hypothyroidism in patients with pseudohypoparathyroidism type la:clinical evidence of resistance toTSH and TRH[J].Eur J Endocrinol,2008,159(4):431-437.

二级参考文献23

  • 1孙立昊,张帆,刘建民,赵红燕,崔斌,宁光.假性甲状旁腺功能减退症Ⅰa型基因诊断二例报道[J].上海交通大学学报(医学版),2006,26(1):28-29. 被引量:6
  • 2姚佳琦,任跃忠.假性甲状旁腺功能减退症的研究进展[J].国际内分泌代谢杂志,2007,27(5):321-324. 被引量:7
  • 3Albright F, Bumett CH, Smith PH, et al. Pseudohypoparathyroidism: an example of Seabright-Bantam syndrome. Endocrinology, 1942,30 : 922-932.
  • 4Weinstein LS, Liu J, Sakamoto A, et al. Minireview: GNAS, normal and abnormal functions. J Endocrinology, 2004,145:5459-5464.
  • 5Mantovani G, Spada A. Mutations in the Gs alpha gene causing hormone resistance. Best Pract Res Clin Endocrinol Metal), 2006,20 : 501-513.
  • 6Jan de Beur S, Ding C, Germain-Lee E, et al. Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1 b revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet, 2003,73:314-322.
  • 7Aldred MA. Genetics of pseudohypoparathyroidism types Ia and Ic. J Pediatr Endocrinal Metab, 2006.19:635-640.
  • 8Thiele S, Wemer R, Ahrens W, et al. A disruptive mutation in exon 3 of the GNAS gene with Albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsc~-L deficiency. J Clin Endocrinol Metab, 2007,92:1764- 1768.
  • 9Spiegel AM, Shenker A, Weinstein LS. Receptor effector coupling by G proteins: implications for normal and abnormal signal transduction. Endocr Rev, 1992,13:536-565.
  • 10Linglart A, Mahon MJ, Keraehian MA, et al. Coding GNAS mutationsleading to hormone resistance impair in vitro agonist and cholera toxin induced adenosine cyclic 3, 5-monophosphate formation mediated by human XLas. J Endocrinology, 2006,147:2253-2262.

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