WordNet
- an impairment of health or a condition of abnormal functioning
- any mature animal
- a fully developed person from maturity onward (同)grownup
- (of animals) fully developed; "an adult animal"; "a grown woman" (同)big, full-grown, fully grown, grown, grownup
- either of two bean-shaped excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine; "urine passes out of the kidney through ureters to the bladder"
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 『おとなの』,成人した,成熟した / 成人向きの / 『おとな』,成人
- 腎臓;(食品としての)羊(豚など)の腎臓 / 《文》気質,性質,たち(nature)
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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- 1. 常染色体優性多発性嚢胞腎の診断およびスクリーニング diagnosis of and screening for autosomal dominant polycystic kidney disease
- 2. 常染色体優性多発性嚢胞腎の経過および治療 course and treatment of autosomal dominant polycystic kidney disease
- 3. 常染色体優性多発性嚢胞腎の腎外症状 extrarenal manifestations of autosomal dominant polycystic kidney disease
- 4. 常染色体優性多発性嚢胞腎の腎症状 renal manifestations of autosomal dominant polycystic kidney disease
- 5. 常染色体優性多発性嚢胞腎における高血圧 hypertension in autosomal dominant polycystic kidney disease
English Journal
- Aortic dissection as a first sign of polycystic kidney disease in a 26-year old young adult.
- Unal EU, Ozen A, Kubat E, Saritas A.SourceDepartment of Cardiovascular Surgery, Turkey Yuksek Ihtisas Hospital, Ankara, Turkey.
- European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.Eur J Cardiothorac Surg.2013 May;43(5):1074. doi: 10.1093/ejcts/ezs554. Epub 2012 Oct 24.
- PMID 23096453
- Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2).
- Khonsari RH, Ohazama A, Raouf R, Kawasaki M, Kawasaki K, Porntaveetus T, Ghafoor S, Hammond P, Suttie M, Odri GA, Sandford RN, Wood JN, Sharpe PT.SourceR.H.K. and R.R. contributed equally to this work.
- Human molecular genetics.Hum Mol Genet.2013 May 1;22(9):1873-85. doi: 10.1093/hmg/ddt041. Epub 2013 Feb 5.
- Polycystin 2 (Pkd2), which belongs to the transient receptor potential family, plays a critical role in development. Pkd2 is mainly localized in the primary cilia, which also function as mechanoreceptors in many cells that influence multiple biological processes including Ca(2+) influx, chemical act
- PMID 23390131
Japanese Journal
- Cure of ADPKD by Selection for Spontaneous Genetic Repair Events in Pkd1-Mutated iPS Cells
- Cheng Li-Tao,Nagata Shogo,Hirano Kunio,Yamaguchi Shinpei,Horie Shigeo,Ainscough Justin,Tada Takashi
- PLoS ONE 7(2), 32018, 2012
- … Here we demonstrate restoration of a genomic mutation heterozygous for Pkd1 (polycystic kidney disease 1) deletion (Pkd1(+/−) to Pkd1(+/R+)) by spontaneous mitotic recombination. … Importantly, the frequency of cyst generation in kidneys of adult chimeric mice containing Pkd1(+/R+) iPSCs was significantly lower than that of adult chimeric mice with parental Pkd1(+/−) iPSCs, and indistinguishable from that of wild-type mice. …
- NAID 120003796491
- Expression of Pkd2l2 in Testis Is Implicated in Spermatogenesis(Molecular and Cell Biology)
- CHEN Ye,ZHANG Zheng,LV Xiao-Yan,WANG Yi-Dong,HU Zhong-Guo,SUN Huan,TAN Rui-Zhi,LIU Yu-Hang,BIAN Guo-Hui,XIAO Yan,LI Qin-Wei,YANG Qiu-Tan,AI Jian-Zhong,FENG Lu,YANG Yang,WEI Yu-Quan,ZHOU Qin
- Biological & pharmaceutical bulletin 31(8), 1496-1500, 2008-08-01
- … Pkd2l2 is a novel member of the polycystic kidney disease (PKD) gene family in mammals. … Immunohistochemical analysis revealed that Pkd2l2 encoded a protein, polycystin-L2, which was predominantly detectable in the plasma membrane of spermatocytes and round spermatids, as well as in the head and tail of elongating spermatids within seminiferous tubules in mouse testis tissue sections of postnatal day 14 and adult mice. …
- NAID 110006839007
Related Links
- Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a cystic genetic disorder of the kidneys. There are two types of PKD: autosomal dominant polycystic kidney disease (ADPKD) and the less-common ...
- Autosomal dominant polycystic kidney disease ("ADPKD", "autosomal dominant PKD" or "Adult-onset PKD") is an inherited systemic disorder that predominantly affects the kidneys, but may affect other organs including the liver, pancreas, ...
Related Pictures
★リンクテーブル★
| リンク元 | 「常染色体優性多発性嚢胞腎」「常染色体優性遺伝病」「autosomal dominant polycystic kidney」 |
| 関連記事 | 「disease」「adult」「kidney disease」「polycystic kidney」「polycystic」 |
「常染色体優性多発性嚢胞腎」
- 英
- autosomal dominant polycystic kidney disease, ADPKD
- 同
- 常染色体優性嚢胞腎、成人型嚢胞腎 adult polycystic kidney disease APKD APCD、adult-type polycystic kidney disease
- 関
- 腎嚢胞
遺伝
疫学
- 10万人対11-12。(SURO.125)
病因
- PKD1, PKD2遺伝子の変異による。
病態
- 腎臓にサイズが大きめの嚢胞が多発し(⇔常染色体劣性嚢胞腎 ARPKD)、腎実質を圧迫して腎機能を低下させる。
症状
- SURO.125
- 高血圧(半数以上の例)
合併症
- 僧帽弁逸脱症もある、らしい。
- 頭蓋内出血(脳動脈瘤＋高血圧)
参考
uptodate
- 1. [charged] 常染色体優性多発性嚢胞腎の遺伝学および嚢胞成長のメカニズム - uptodate [1]
- 2. [charged] 常染色体優性多発性嚢胞腎の診断およびスクリーニング - uptodate [2]
- 3. [charged] 常染色体優性多発性嚢胞腎の腎外症状 - uptodate [3]
- 4. [charged] 常染色体優性多発性嚢胞腎の腎症状 - uptodate [4]
- 5. [charged] 常染色体優性多発性嚢胞腎における高血圧 - uptodate [5]
- 6. [charged] 常染色体優性多発性嚢胞腎における尿路感染症 - uptodate [6]
- 7. [charged] 常染色体優性多発性嚢胞腎の経過および治療 - uptodate [7]
- 8. [charged] 小児における常染色体優性多発性嚢胞腎 - uptodate [8]
「常染色体優性遺伝病」
autosomal-dominant diseases (first aid step p.108)
- 成人型嚢胞腎 adult polycystic kidney disease
- 家族性高コレステロール血症 familial hypercholesterolemia (hyperlipidemia type IIA)
- マルファン症候群 Marfan's syndrome
- 神経線維腫症1型 neurofibromatosis type 1(von Recklinghausen's disease)
- 神経線維腫症2型 neurofibromatosis type 2
- 結節性硬化症 tuberous sclerosis
- フォン・ヒッペル・リンドウ病 von Hippel-Lindau disease
- ハンチントン病 Huntington's disease
- 家族性大腸腺腫症 familial adenomatous polyposis
- 遺伝性球状赤血球症 hereditary spherocytosis
- 軟骨無形成症 achondroplasia
男性の年齢と孤発性常染色体優性遺伝病
- HIM.2319
- 高齢男性の子供ではsporadic missense mutationにより発生しやすい
- achondroplasia、polyposis coli、Marfan syndrome、Apert's symdrome
「autosomal dominant polycystic kidney」
「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.
- 注意
「adult」
- n.
- adj.
- 成体型の、成人型の、大人の、成人性の
「kidney disease」
「polycystic kidney」
- 同
- 多発性嚢胞腎
「polycystic」
- 多嚢胞性の、多嚢胞の