Fabry disease

出典: meddic

ファブリ病

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/12/21 15:15:11」(JST)

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英文文献

  • Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
  • Smid BE1, Hollak CE1, Poorthuis BJ2, van den Bergh Weerman MA3, Florquin S3, Kok WE4, Lekanne Deprez RH5, Timmermans J6, Linthorst GE1.
  • Clinical genetics.Clin Genet.2015 Aug;88(2):161-6. doi: 10.1111/cge.12449. Epub 2014 Sep 5.
  • Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead to classical or non-classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non-classical FD and assess the diagnostic value of plasma globotriaosylsphingosine. This is a c
  • PMID 25040344
  • Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.
  • Ferreira S1, Auray-Blais C2, Boutin M3, Lavoie P4, Nunes JP5, Martins E6, Garman S7, Oliveira JP8.
  • Clinica chimica acta; international journal of clinical chemistry.Clin Chim Acta.2015 Jul 20;447:96-104. doi: 10.1016/j.cca.2015.06.003. Epub 2015 Jun 9.
  • Recent data have shown that lyso-Gb3, the deacylated derivative of globotriaosylceramide (Gb3), is possibly involved in the pathogenesis of Fabry disease (FD) and might be a clinically useful biomarker of its metabolic load. To test this hypothesis, we assayed Gb3 and lyso-Gb3 and related analogs in
  • PMID 26070511
  • Translational value of animal models of kidney failure.
  • Ortiz A1, Sanchez-Niño MD2, Izquierdo MC2, Martin-Cleary C3, Garcia-Bermejo L4, Moreno JA3, Ruiz-Ortega M5, Draibe J6, Cruzado JM6, Garcia-Gonzalez MA7, Lopez-Novoa JM8, Soler MJ9, Sanz AB10; Red de Investigacion Renal (REDINREN) and Consorcio Madrileño para investigación del fracaso renal agudo (CIFRA).
  • European journal of pharmacology.Eur J Pharmacol.2015 Jul 15;759:205-20. doi: 10.1016/j.ejphar.2015.03.026. Epub 2015 Mar 24.
  • Acute kidney injury (AKI) and chronic kidney disease (CKD) are associated with decreased renal function and increased mortality risk, while the therapeutic armamentarium is unsatisfactory. The availability of adequate animal models may speed up the discovery of biomarkers for disease staging and the
  • PMID 25814248

和文文献

  • Industrial Info. ファブリー病の心症状とアガルシダーゼベータによる酵素補充療法
  • Fabry病 (特集 心筋症 : 診断と治療の進歩) -- (二次性心筋症を見逃さない)
  • 久保 亨
  • 日本内科学会雑誌 103(2), 293-298, 2014-02-10
  • NAID 40019980563
  • p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males
  • Nakamura K,Sekijima Y,Nakamura K,Hattori K,Nagamatsu K,Shimizu Y,Yazaki M,Sakurai A,Endo F,Fukushima Y,Ikeda S. -I
  • EUROPEAN JOURNAL OF NEUROLOGY 21(1), 49-56, 2014-01
  • … Background and purposeGLA is the causative gene of Fabry disease, an X-linked lysosomal storage disorder resulting from -galactosidase A (-GAL) deficiency. … Stroke is an important manifestation of Fabry disease, and recent epidemiological studies have indicated that up to 4.9% of young male cryptogenic stroke patients have GLA mutations. …
  • NAID 120005440148

関連リンク

What is Fabry Disease Fabry Disease: Fabry disease results from abnormal deposits of a particular fatty substance (called globotriaosylcera-mide) in blood vessel walls throughout the body. The primary defect which allows this to ...
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect ...

関連画像

Fabry DiseaseFabry Diseasefabry_disease.jpgFabry disease Fabry's Disease. We can beat this diseaseFabry disease


★リンクテーブル★
リンク元ファブリー病
拡張検索Anderson-Fabry disease
関連記事disease」「diseased

ファブリー病」

  [★]

Fabry's disease, Fabry disease, Fabry syndrome
ファブリー病Fabry病
セラミドトリヘキソシド蓄積症 ceramide trihexoside storage diseaseびまん性体部被角血管腫 angiokeratoma corporis diffusum
リソソーム病スフィンゴ脂質蓄積症難病
[show details]
  • 図:NDE.288(皮膚症状)
  • 伴性劣性遺伝
  • セラミドが蓄積
トリヘキソシルセラミド--(α-ガラクトシダーゼ A)-→ラクトシルセラミド
=セラミドトリヘキソシド

概念

病因

  • α-ガラクトシダーゼ Aの欠損

疫学

遺伝形式

病変形成&病理

症状

  • 発症は思春期以降
  • 神経症状:発作性/持続性の手足先端の疼痛、異常感覚 ← 学童期に発症
  • 皮膚症状:外陰部、大腿部発疹 ← *真皮小血管の拡張と角質過形成による皮疹(被角血管腫)
  • 腎症状 :腎障害、腎不全 ← 脂質の地区生による
  • 血管障害:心筋障害、角膜の変性
peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease(first aid step 1 p.99)

診断

検査

治療

予後

  • 腎不全により死亡することが多い。40歳前後で。

予防

参考

  • 1.
[display]http://www.nanbyou.or.jp/entry/325



Anderson-Fabry disease」

  [★]

アンダーソン・ファブリー病Anderson-Fabry病

Fabry diseaseFabry's disease


disease」

  [★]

  • n.
疾患illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
  • something that is very wrong with people's attitudes, way of life or with society.
ailailmentdisease entitydisorderillillnessmaladysicksickness
  • 注意
diseaseillnessdisorder


WordNet   license wordnet

「an impairment of health or a condition of abnormal functioning」

PrepTutorEJDIC   license prepejdic

「(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊」

PrepTutorEJDIC   license prepejdic

「女性の話術芸人 =diseur」


diseased」

  [★]

WordNet   license wordnet

「caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes"」
morbid, pathologic, pathological

PrepTutorEJDIC   license prepejdic

「病気にかかった / 病的な,不健全な(morbid)」




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