pseudohypoparathyroidism

出典: meddic

偽性副甲状腺機能低下症

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/04/07 11:48:49」(JST)

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英文文献

  • Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.
  • Zeng WH1, Xu JJ, Jia MY, Ren YZ.
  • Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.Gynecol Endocrinol.2014 Jun 10:1-3. [Epub ahead of print]
  • Abstract Objective: To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. Case: A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indic
  • PMID 24915162
  • A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia.
  • Tam VH1, Chen SP2, Mak CM2, Fung LM1, Lee CY3, Chan AY2.
  • Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine.Hong Kong Med J.2014 Jun;20(3):258-60. doi: 10.12809/hkmj134025.
  • Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. Patients with type 1a pseudohypoparathyroidism display different
  • PMID 24914079
  • Gradual development of brachydactyly in pseudohypoparathyroidism.
  • Virágh K1, Tőke J, Sallai A, Jakab Z, Rácz K, Tóth M.
  • The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2014 Jun;99(6):1945-6. doi: 10.1210/jc.2014-1674. Epub 2014 Mar 31.
  • PMID 24684469

和文文献

  • Pseudohypoparathyroidism Type II in a Woman with a History of Thyroid Surgery
  • Murakami Takaaki,Nambu Takuo,Morimoto Yuki,Matsuda Yuki,Matsuo Koji,Yonemitsu Shin,Muro Seiji,Oki Shogo
  • Internal Medicine 53(7), 743-747, 2014
  • … We herein describe the case of a woman with pseudohypoparathyroidism (PHP) type II. …
  • NAID 130003392748
  • 副甲状腺機能低下症および偽性副甲状腺機能低下症 (特集 知っておきたい先天性・遺伝性内分泌疾患)
  • 難波 範行
  • 内分泌・糖尿病・代謝内科 37(4), 373-379, 2013-10
  • NAID 40019847614
  • Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification
  • NAGASAKI Keisuke,TSUCHIYA Shuichi,SAITOH Akihiko,OGATA Tsutomu,FUKAMI Maki
  • Endocrine journal 60(2), 231-236, 2013-02-01
  • NAID 10031156746

関連リンク

I have had pseudohypoparathyroidism.com all my life but it wasn't detected or diagnosed untill my early teen years. Pseudohypoparathyroidism has been with me a long time and I hope I can answer some of your questions with this ...
Pseudohypoparathyroidism. Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH ... ...

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★リンクテーブル★
リンク元偽性副甲状腺機能低下症」「PHP
拡張検索pseudo-pseudohypoparathyroidism」「pseudopseudohypoparathyroidism

偽性副甲状腺機能低下症」

  [★]

pseudohypoparathyroidism PHP
偽性上皮小体機能低下症仮性副甲状腺機能低下症
副甲状腺機能低下症


症状

副甲状腺機能低下症に共通した症状(YN.D51)

偽性副甲状腺機能低下症に特有の症状(YN.D51)

  • 知能低下
  • 低身長、肥満、円形顔貌
  • 全身けいれん発作、四肢筋のひきつれ


検査

血液生化学

  • Ca:低値
  • P:高値

ホルモン

  • PTH:高値 ← 代償的に高値となる。

参考

  • 1. 偽性副甲状腺機能低下症 - nurs
http://www.nurs.or.jp/~academy/igaku/s3/s32332.htm
  • 2. Pseudohypoparathyroidism - pubmed health
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001403/
  • 3.
http://www.hypoparathyroidism.org.uk/details05.asp?id=-1990863324
  • 4.
http://www.endotext.org/parathyroid/parathy


PHP」

  [★]

参考

pseudo-pseudohypoparathyroidism」

  [★] 偽性偽性副甲状腺機能低下症


pseudopseudohypoparathyroidism」

  [★] 偽性偽性副甲状腺機能低下症



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