期刊文献+

以多种癫发作为主要表现的假性甲状旁腺功能减退症(附1例报告) 被引量:2

Pseudohypoparathyroidism appeared mainly as various kinds of seizures(Report of 1 case)
下载PDF
导出
摘要 目的探讨以多种癫发作为主要表现的假性甲状旁腺功能减退症(PHP)的临床特点。方法回顾性分析1例PHP患者的临床资料。结果本例患者儿童期发病,表现为多种形式癫发作,特殊的体貌特征、骨发育畸形,检查发现低血钙、血甲状旁腺素升高、颅内多发钙化灶。经过钙剂、抗癫治疗后癫发作得到控制。结论 PHP常于儿童起病,除PHP症状外,可合并多种癫发作。 Objective To explore the clinical features of pseudohypoparathyroidism appeared mainly as various kinds of seizures.Methods The clinical data of one PHP patient was retrospectively analyzed.Results The patient was onset at childhood,and appeared as various kinds of seizures,special appearance,bone deformity,and her detection showed low serum calcium,high parathyroid hormone and multiple foci of intracranial calcification.The seizures were controlled after calcium treatment and antiepileptic therapy.Conclusions PHP usually onsets at childhood.Apart from PHP symptoms,it can combined various kinds of seizures.
作者 高欢 徐家立
出处 《临床神经病学杂志》 CAS 北大核心 2011年第2期128-129,共2页 Journal of Clinical Neurology
关键词 假性甲状旁腺功能减退症 癫发作 治疗 pseudohypoparathyroidism seizures therapy
  • 相关文献

参考文献10

二级参考文献22

  • 1Mantovani G,Spada A. Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy. J Pediatr Endocrinol Metab,2006,19:663-670.
  • 2Linglart A, Mahon J, Kerachian MA, et al. Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XL [alpha] s. Endocrinology,2006,147: 2253-2262.
  • 3Thiele S,Werner R, Ahrens W, et al. A disruptive mutation in exon 3 of the GNAS gene with Albright's hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. J Clin Endocrinol Metab,2007,92: 1764-1768.
  • 4Kapoor S, Goqia S, Paul S, et al. Albright's hereditary osteodystrophy. Indian J Pediatr,2006,73:153-156.
  • 5Long DN, McGuire S, Levine MA, et al. Body mass index differences in pseudohypoparathyroidism type la versus pseudopseudohypopara-thyroidism may implicate paternal imprinting of Galpha (s) in the development of human obesity. J Clin Endocrinol Metab, 2007,92 : 1073 -1079.
  • 6de Sanctis L, Bellone J, Salerno M, et al. GH secretion in a cohort of children with pseudohypoparathyroidisrn type Ⅰ a. J Endocrinol Invest, 2007,30:97-103.
  • 7Frohlich LF, Bastepe M, Ozturk D, et al. Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ⅰ b in mice with targeted disruption of syntaxin-16. Endocrinology,2007,148:2925-2935.
  • 8Juppner H, Linglart A, Frohlieh LF, et al. Autosomal-dominant pseudohypoparathyroidism type Ⅰ b is caused by different microdeletions within or upstream of the GNAS locus. Ann N Y Acad Sci, 2006,1068:250-255.
  • 9de Nanclares GP, Fernandez-Rebollo E, Santin I, et al. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrhlol Metab ,2007,92:2370-2373.
  • 10Aldred MA. Genetics of pseudohypoparathyroidism type Ⅰ a and Ⅰ c. J Pediatr Endocrinol Metab ,2006,19 (Suppl 2) :635-640.

共引文献28

同被引文献13

引证文献2

二级引证文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部