同: 多発性嚢胞腎

WordNet

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"

PrepTutorEJDIC

腎臓;(食品としての)羊(豚など)の腎臓 / 《文》気質,性質,たち(nature)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/08/12 03:33:03」(JST)

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Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a cystic genetic disorder of the kidneys.^[1] There are two types of PKD: autosomal dominant polycystic kidney disease (ADPKD) and the less-common autosomal recessive polycystic kidney disease (ARPKD).

It occurs in humans and some other animals. PKD is characterized by the presence of multiple cysts (hence, "polycystic") typically in both kidneys; however 17% of cases initially present with observable disease in one kidney, with most cases progressing to bilateral disease in adulthood.^[2] The cysts are numerous and are fluid-filled, resulting in massive enlargement of the kidneys. The disease can also damage the liver, pancreas and, in some rare cases, the heart and brain. The two major forms of polycystic kidney disease are distinguished by their patterns of inheritance.

Polycystic kidney disease is one of the most common life-threatening genetic diseases, affecting an estimated 12.5 million people worldwide.^[3]

Types

Polycystic Kidney Disease, or PKD, is a blanket term for the two types of PKD, each having their own pathology and causes. These two types of PKD are Autosomal dominant polycystic kidney disease (ADPKD) and Autosomal recessive polycystic kidney disease (ARPKD)

Autosomal dominant

CT scan showing autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common of all the hereditary cystic kidney diseases^[2]^[4]^[5] with an incidence of 1:500 live births.^[2]^[5] Studies show that 10% of end-stage renal disease (ESRD) patients being treated with hemodialysis in Europe and the U.S. were initially diagnosed and treated for ADPKD.^[2] ADPKD does not appear to demonstrate a preference for any particular ethnicity.

ADPKD is characterized by progressive cyst development and bilaterally enlarged kidneys with multiple cysts. There are three genetic mutations in the PKD-1, PKD-2, and PKD3 gene with similar phenotypical presentations. Gene PKD-1 is located on chromosome 16 and codes for a protein involved in regulation of cell cycle and intracellular calcium transport in epithelial cells, and is responsible for 85% of the cases of ADPKD. A group of voltage-linked calcium channels are coded for by PKD-2 on chromosome 4. PKD3 recently appeared in research papers as a postulated 3rd gene. At this time, PKD3 has not been proven.^[2]^[4] Fewer than 10% of cases of ADPKD appear in non-ADPKD families.

Cyst formation begins in utero from any point along the nephron, although fewer than 5% of nephrons are thought to be involved. As the cysts accumulate fluid, they enlarge, separate entirely from the nephron, compress the neighboring renal parenchyma, and progressively compromise renal function.

Under the function of gene defect, epithelial cells of renal tubule turn into epithelial cells of cyst wall after phenotype change, and begin to have the function of secreting cyst fluid, which leads to continuous cysts enlargement.^[6]

Autosomal recessive

Autosomal recessive polycystic kidney disease (ARPKD) (OMIM #263200) is the lesser common of the two types of PKD, with an incidence of 1:20,000 live births and is typically identified in the first few weeks after birth. Unfortunately, resulting hypoplasia results in a 30% death rate in neonates with ARPKD.^[2] In ARPKD kidneys retain their shape but are larger than the normal anatomical range with dilated collecting ducts from the medulla to the cortex.

References

^ "polycystic kidney disease" at Dorland's Medical Dictionary
^ ^a ^b ^c ^d ^e ^f Bisceglia, M; et al (2006). "Renal cystic diseases: a review". Advanced Anatomic Pathology (13): 26–56.
^ Wilson PD. Polycystic kidney disease. N Engl J Med 2004;350:151-164
^ ^a ^b Torres, WE; Harris PC; Pirson Y (2007). "Autosomal dominant polycystic urology". Lancet 369 (9569): 1287–301. doi:10.1016/S0140-6736(07)60601-1.
^ ^a ^b Simons, M; Walz G (2006). "Polycystic kidney disease: cell division with a c(l)ue?". Kidney International (70): 854–864.
^ 梅长林，常染色体显性多囊肾病，肾脏病学，第三版，人民卫生出版社|year=2008,9|pages=1746

External links

Polycystic Kidney Disease Research and Education
The National Kidney Foundation: A to Z Health Guide

UpToDate Contents

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1. 常染色体優性多発性嚢胞腎における疼痛症候群 pain syndromes in autosomal dominant polycystic kidney disease
2. 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
3. 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
4. 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
5. 常染色体優性多発性嚢胞腎の腎症状 renal manifestations of autosomal dominant polycystic kidney disease

English Journal

Excessive activation of the alternative complement pathway in autosomal dominant polycystic kidney disease.

Su Z, Wang X, Gao X, Liu Y, Pan C, Hu H, Beyer RP, Shi M, Zhou J, Zhang J, Serra AL, Wüthrich RP, Mei C.Author information Kidney Institute, Department of Nephrology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, P.R. China.AbstractOBJECTIVES: The complement system is involved in many immune complex-mediated kidney diseases, yet its role in the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD) has not been examined in detail.
Journal of internal medicine.J Intern Med.2014 Feb 4. doi: 10.1111/joim.12214. [Epub ahead of print]
OBJECTIVES: The complement system is involved in many immune complex-mediated kidney diseases, yet its role in the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD) has not been examined in detail.METHODS AND RESULTS: Screening of the glycoproteome of urine samples from ADPKD pati
PMID 24494798

Anterior ischemic optic neuropathy in pediatric peritoneal dialysis: risk factors and therapy.

Dufek S, Feldkoetter M, Vidal E, Litwin M, Munk M, Reitner A, Mueller-Sacherer T, Aufricht C, Arbeiter K, Boehm M.Author information Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.AbstractBACKGROUND: Sudden blindness caused by anterior ischemic optic neuropathy (AION) is a rare complication for patients undergoing peritoneal dialysis (PD). Prognosis is generally poor, with AION commonly resulting in permanent visual loss.
Pediatric nephrology (Berlin, Germany).Pediatr Nephrol.2014 Feb 2. [Epub ahead of print]
BACKGROUND: Sudden blindness caused by anterior ischemic optic neuropathy (AION) is a rare complication for patients undergoing peritoneal dialysis (PD). Prognosis is generally poor, with AION commonly resulting in permanent visual loss.METHODS: We first describe four case reports of children with A
PMID 24488506

Health-Related Quality of Life in Patients With Autosomal Dominant Polycystic Kidney Disease and CKD Stages 1-4: A Cross-sectional Study.

Miskulin DC1, Abebe KZ2, Chapman AB3, Perrone RD4, Steinman TI5, Torres VE6, Bae KT2, Braun W7, Winklhofer FT8, Hogan MC6, Rahbari-Oskoui F3, Moore CG2, Flessner MF9, Schrier RW10; HALT-PKD Study.Author information 1Tufts Medical Center, Boston, MA. Electronic address: dmiskulin@tuftsmedicalcenter.org.2University of Pittsburgh School of Medicine, Pittsburgh, PA.3Emory University School of Medicine, Atlanta, GA.4Tufts Medical Center, Boston, MA.5Beth Israel Deaconess Medical Center, Boston, MA.6Mayo Clinic College of Medicine, Rochester, MN.7Cleveland Clinic, Cleveland, OH.8Kansas University Medical Center, Kansas City, KS.9National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.10University of Colorado Health Sciences Center, Denver, CO.AbstractBACKGROUND: In people with early autosomal dominant polycystic kidney disease (ADPKD), average total kidney volume (TKV) is 3 times normal and increases by an average of 5% per year despite a seemingly normal glomerular filtration rate (GFR). We hypothesized that increased TKV would be a source of morbidity and diminished quality of life that would be worse in patients with more advanced disease.
American journal of kidney diseases : the official journal of the National Kidney Foundation.Am J Kidney Dis.2014 Feb;63(2):214-26. doi: 10.1053/j.ajkd.2013.08.017. Epub 2013 Nov 1.
BACKGROUND: In people with early autosomal dominant polycystic kidney disease (ADPKD), average total kidney volume (TKV) is 3 times normal and increases by an average of 5% per year despite a seemingly normal glomerular filtration rate (GFR). We hypothesized that increased TKV would be a source of m
PMID 24183837

Japanese Journal

医療技術腎動脈塞栓療法に使用されるコイル数と治療後の血小板数の推移との関連性について

伊豫田誠子,白井康之,諏訪部達也 [他]
共済医報 63(3), 242-247, 2014-08
NAID 40020229391

症例報告 Helicobacter cinaedi敗血症を伴った多発性囊胞腎透析患者の1例

根岸真央人,南郷智香,日比野祐香 [他]
日本透析医学会雑誌 47(8), 501-506, 2014-08
NAID 40020195637

生体腎移植術後に可逆性後白質脳症症候群Posterior reversible encephalopathy syndrome(PRES)を来たした1例

上田倫央,川村正隆,中澤成晃,平井利明,岸川英史,西村憲二
泌尿器科紀要 = Acta urologica Japonica 60(8), 387-392, 2014-08
… A 60-year-old woman with chronic renal failure due to a polycystic kidney underwent living kidney transplantation. …
NAID 120005468366

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★リンクテーブル★

リンク元	「多発性嚢胞腎」「cystic kidney」「polycystic renal disease」
拡張検索	「autosomal dominant polycystic kidney」「autosomal recessive polycystic kidney」「autosomal recessive polycystic kidney disease」「polycystic kidney disease」
関連記事	「polycystic」「kidney」

「多発性嚢胞腎」

Polycystic kidney disease
	Classification and external resources
	Polycystic kidneys
ICD-10	Q61
ICD-9	753.1
OMIM	173900
DiseasesDB	10262 10280
MedlinePlus	000502
eMedicine	med/1862 ped/1846 radio/68 radio/69
MeSH	D007690

　　[★]

英: polycystic kidney disease, PCKD, PKD,polycystic kidney
同: 多嚢胞腎、嚢胞腎
関: [[]]

概念

ほとんどが両側性で、貧血、顕微鏡的血尿、蛋白尿、高血圧といった症状を呈しながら腎機能が低下し、最終的には腎不全となる疾患
発生の過程で、集合管と尿細管の結合が行われず、大小多数の嚢胞が形成。

遺伝

常染色体優性遺伝：成人型、集合管と尿細管に嚢胞を生じる。
常染色体劣性遺伝：小児型、集合管に嚢胞を生じる。

常染色体劣性多発性嚢胞腎：ARPKD

旧名：幼児型嚢胞腎

常染色体優性多発性嚢胞腎：ADPKD

旧名：成人型嚢胞腎

病態生理

嚢胞病変：遺伝子の以上により、上皮細胞の分化や細胞外マトリックスの機能欠損が全身性に起こることにより種々の腎外病変を呈する。(参考2)

病態

嚢胞腎
腎不全：平均54-74歳で腎不全に至る。

症候

参考1

高血圧、血尿、蛋白尿、腎不全。
患者が訴える一般的な症状：腎出血、腎石灰化？、尿路感染による側腹部痛

高血圧：腎機能が正常な患者のほとんどに存在。40年間程度持続する。高熱圧の存在によりほとんど全員が末期腎不全に至る。

嚢胞疾患の合併：肝臓、膵臓、脾臓、甲状腺、精巣上体

合併症

脳動脈流、肝嚢胞、膵嚢胞、心臓弁膜症(大動脈基部拡張を含む)、大腸憩室、腹壁ヘルニア・鼡径ヘルニア

(参考2)

予後

参考1

死因は心臓による物が最多である：心臓病(36%)、感染症(24%)、神経学的なイベント(12%)。剖検では心肥大が89%の患者に見られ、冠動脈疾患が81%に見られた。神経学的な死亡(neurologic deaths)では頭蓋内動脈瘤破裂が主であり(6%)、頭蓋内出血が5%であった。

参考

1. [charged] Course and treatment of autosomal dominant polycystic kidney disease - uptodate [1]
2. [charged] Extrarenal manifestations of autosomal dominant polycystic kidney disease - uptodate [2]

「cystic kidney」

　　[★]

嚢胞腎

関: cystic kidney disease、cystic renal disease、polycystic kidney

「polycystic renal disease」

　　[★]

多発性嚢胞腎

関: PKD、polycystic kidney、polycystic kidney disease

「autosomal dominant polycystic kidney」

　　[★]

常染色体優性多発性嚢胞腎

関: ADPKD、adult polycystic kidney disease、autosomal dominant polycystic kidney disease

「autosomal recessive polycystic kidney」

　　[★] 常染色体劣性多発性嚢胞腎

「autosomal recessive polycystic kidney disease」