常染色体劣性多発性嚢胞腎 autosomal recessive polycystic kidney disease

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/11/02 21:10:48」(JST)

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ARPKD is inherited in an autosomal recessive pattern.

The recessive form of polycystic kidney, called ARPKD (autosomal recessive polycystic kidney disease) is less common than autosomal dominant polycystic kidney.

Mutations in the PKHD1 (chromosomal locus 6p12.2) cause ARPKD.^[1]^[2]

It can present with Potter sequence.^[3]

Clinical Features

The clinical presentation of ARPKD is highly variable. Up to 50% of affected neonates die of pulmonary hypoplasia, the result of oligohydramnios from severe intrauterine kidney disease. About 80% of those who survive the neonatal period are still alive after 10 years; however, one-third of them will have developed ESRD. Enlarged kidneys may be detected soon after birth as bilateral abdominal masses. Impaired urinary concentrating ability and metabolic acidosis ensue as tubular function deteriorates. Hypertension often occurs in the first few years of life. Kidney function deteriorates progressively from childhood into early adult life. Longer-term survivors frequently develop portal hypertension, esophageal varices, and hypersplenism from periportal fibrosis.

Micrograph of a von Meyenburg complex, a common finding in the liver in individuals with polycystic kidney disease. Liver biopsy. Trichrome stain.

Risk factors for progressive kidney disease include younger age at diagnosis, black race, male gender, presence of polycystin-1 mutation, and hypertension. General presenting symptoms and signs include abdominal discomfort, hematuria, urinary tract infection, incidental discovery of hypertension, abdominal mass, elevated serum creatinine, or cystic kidneys on imaging studies, patients usually have renal pain, and develop renal insufficiency.

ARPKD-Specific: The classic presentation for ARPKD is systemic hypertension with progression to end-stage renal disease (ESRD) by the age of 15. In atypical presentation, a small number of ARPKD sufferers live to adulthood with some kidney function; but with significant deterioration in liver function.^[4] This outcome is postulated to result from expression of the polycystic kidney and hepatic disease gene PKHD1, which is located on chromosome 6p.^[5]

ADPKD-Specific: ADPKD is associated with pathologies in other body systems, in contrast to ARPKD.^[4] In 50% of the cases cysts appear in other abdominal organs in including the liver, pancreas, spleen, lung, seminal vesicles, and ovaries. 10 to 30% have Berry aneurysms in the Circle of Willis cerebral circulation. The most common sites for cysts include the coronary arteries; and abnormalities in cardiac valves, hernias, and diverticuli are all documented.^[4]

Clinical Course: Approximately 50% of patients with ADPKD have end-stage renal disease (ESRD) by the age of 60, but those with ADPKD-2 tend to have later onset and slower progression. Hypertension is common, and often precedes renal dysfunction. Abdominal pain and early satiety and gastroesophageal reflux symptoms are common, due to the mass effect of the enlarged kidneys. Cyst rupture or hemorrhage into a cyst may produce acute pain or symptoms and signs of localized peritonitis. Hematuria may result from cyst rupture into the collecting system, or from uric acid or calcium oxalate kidney stones. Nephrolithiasis occurs in about 20% of patients.

Urinary tract infection occurs with increased frequency in ADPKD. Infection in a kidney or liver cyst is a particularly serious complication. It is most often due to Gram-negative bacteria, and presents with pain, fever, and chills. Blood cultures are frequently positive, but urine culture may be negative, because infected kidney cysts do not communicate directly with the collecting duct system. Distinguishing between infection and cyst hemorrhage is often a challenge, and the diagnosis relies mainly on clinical and bacteriological findings. Radiological and nuclear imaging studies are generally not helpful.

Numerous extrarenal manifestations of ADPKD highlight the systemic nature of the disease, and likely reflect a generalized abnormality in collagen and extracellular matrix. Patients with ADPKD have an increased risk of cerebral hemorrhage from a ruptured intracranial aneurysm, as compared to the general population. Saccular aneurysms of the anterior cerebral circulation may be detected in up to 10% of asymptomatic patients on MRA screening, but most are small, have a low risk of spontaneous rupture, and do not merit the risk of intervention. In general, hemorrhage tends to occur before the age of 50 years. In patients with a family history of intracranial hemorrhage, those who have survived a previous bleed have aneurysms larger than 10 mm, and have uncontrolled hypertension. Other vascular abnormalities include aortic root and annulus dilatation. Cardiac valvular abnormalities occur in 25% of patients – most commonly mitral valve prolapse and aortic regurgitation. Although most valvular lesions are asymptomatic, some may progress over time, and warrant valve replacement. Abdominal hernia and inguinal hernia also occur with a higher frequency than in the general population.

Diagnosis

Ultrasonography reveals large, echogenic kidneys. The diagnosis can be made in utero after 24 weeks of gestation in severe cases, but cysts generally become visible only after birth. The absence of renal cysts in either parent on ultrasonography helps to distinguish ARPKD from ADPKD in older patients. The wide range of different mutations and the large size of the gene complicate molecular diagnosis, although prenatal diagnosis is possible by gene linkage to the PKHD1 locus in families with a previous confirmed ARPKD birth.

The sensitivity of renal ultrasonography for the detection of ADPKD is 100% for subjects 30 years or older with a positive family history. Diagnostic criteria require two or more cysts in one kidney and at least one cyst in the contralateral kidney in young subjects, but four or more in subjects older than 60 years, because of the increased frequency of benign simple cysts. Most often, the diagnosis is made from a positive family history and imaging studies showing large kidneys with multiple bilateral cysts and possibly liver cysts. Before the age of 30 years, CT scan or T2-weighted MRI is more sensitive for detecting presymptomatic disease because the sensitivity of ultrasound falls to 95% for ADPKD type 1 and <70% for ADPKD type 2. Genetic counseling is essential for those being screened. It is recommended that screening for asymptomatic intracranial aneurysms should be restricted to patients with a personal or family history of intracranial hemorrhage. Intervention should be limited to aneurysms larger than 10 mm. Someone with this disease has a 5% chance of getting brain aneurysms.

Treatment

No specific therapy exists for ARPKD. Improvements in mechanical ventilation, neonatal support, blood pressure management, dialysis, and kidney transplantation have led to survival well into adulthood. Complications of hepatic fibrosis may necessitate liver transplantation. Future therapies may target aberrant cell signaling mechanisms, as in ADPKD.

At present, treatment is largely supportive, as there is no single therapy that has been shown to prevent the decline in kidney function. Hypertension control with a target blood pressure of 130/85 or less is recommended. Lower levels have been reported to slow the rate of loss of kidney function. A multidrug approach that includes agents to inhibit the renin-angiotensin system is frequently required. There is no compelling evidence to recommend a low-protein diet, especially in patients with advanced kidney dysfunction where optimizing nutritional status is important. Lipid-soluble antimicrobials, such as trimethoprim-sulfamethoxazole and quinolone antibiotics that have good tissue permeation, are the preferred therapy for infected kidney cysts. Pain-management occasionally requires cyst drainage by percutaneous aspiration, sclerotherapy with alcohol or, rarely, surgical drainage. Patients with ADPKD appear to have a survival advantage on either peritoneal or hemodialysis compared to patients with other causes of ESRD. Those undergoing kidney transplantation may require bilateral nephrectomy if the kidneys are massively enlarged or have been the site of infected cysts. Post-transplantation survival rates are similar to those of patients with other causes of kidney failure, but patients remain at risk for the extrarenal complications of ADPKD.

Studies in animal models of inherited cystic disease have identified promising therapeutic strategies, which are undergoing clinical research, including vasopressin V2 receptor antagonists (such as Tolvaptan), and mTOR inhibitors (such as Sirolimus or Everolimus).

References

^ Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K (March 2005). "Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)". Hum. Mutat. 25 (3): 225–31. doi:10.1002/humu.20145. PMID 15706593.
^ Zhang MZ, Mai W, Li C, et al. (February 2004). "PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells". Proc. Natl. Acad. Sci. U.S.A. 101 (8): 2311–6. doi:10.1073/pnas.0400073101. PMC 356947. PMID 14983006. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=14983006.
^ Gillessen-Kaesbach G, Meinecke P, Garrett C, Padberg BC, Rehder H, Passarge E (February 1993). "New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects". Am. J. Med. Genet. 45 (4): 511–8. doi:10.1002/ajmg.1320450422. PMID 8465860.
^ ^a ^b ^c Bisceglia, M; et al (2006). "Renal cystic diseases: a review". Advanced Anatomic Pathology (13): 26–56.
^ Sweeney, WE; Avner ED (2006). "Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPDK)". Cell Tissue Research (326): 671–685.

External links

GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Recessive
ARPKD/CHF Alliance at http://www.arpkdchf.org, for information on ARPKD and Congenital Hepatic Fibrosis (CHF).
The Polycystic Kidney Disease Foundation website - more details on trials, treatments, nutrition, and support.

UpToDate Contents

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1. 小児における常染色体劣性多発性嚢胞腎 autosomal recessive polycystic kidney disease in children
2. 嚢胞性腎疾患の胎児超音波診断 prenatal sonographic diagnosis of cystic renal disease
3. 小児における常染色体優性多発性嚢胞腎 autosomal dominant polycystic kidney disease in children
4. 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
5. 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

English Journal

Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model.

Sato Y, Ren XS, Nakanuma Y.SourceDepartment of Human Pathology, Graduate School of Medicine, Kanazawa University, Kanazawa 920-8640, Japan.
International journal of hepatology.Int J Hepatol.2012;2012:107945. Epub 2011 Jul 6.
Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD). It is a congenital disorder characterized by segmental saccular dilatations of the large intrahepatic bile duct and is frequently associate
PMID 22007315

Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.

O'Brien K, Font-Montgomery E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani K, Choyke P, Mohan P, Heller T, Gahl WA, Gunay-Aygun M.Source*Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health †National Institutes of Health Clinical Center ‡Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD §Children's National Medical Center, Washington, DC ||National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.
Journal of pediatric gastroenterology and nutrition.J Pediatr Gastroenterol Nutr.2012 Jan;54(1):83-9.
OBJECTIVES: : Autosomal dominant (ADPKD) and recessive (ARPKD) polycystic kidney diseases are the most common hepatorenal fibrocystic diseases (ciliopathies). Characteristics of liver disease of these disorders are quite different. All of the patients with ARPKD have congenital hepatic fibrosis (CHF
PMID 21694639

Caroli's syndrome in a post renal transplant patient: Case report and review of the literature.

Bawany MZ, Alaradi O, Nawras A.SourceDepartment of Medicine, University of Toledo Medical Center Toledo, Ohio, USA.
Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association.Saudi J Gastroenterol.2012 Jan;18(1):59-61.
Caroli's syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and occasionally with autosomal dominant polycyst
PMID 22249095

Japanese Journal

常染色体劣性多発性嚢胞腎の臨床像 : —単一施設における小児10症例の検討—

水谷誠,近本裕子,上田博章,谷口貴実子,梶保祐子,古山政幸,石塚喜世伸,末廣真美子,藤井寛,久野正貴,秋岡祐子,世川修,渕之上昌平,寺岡慧,服部元史
日本小児腎臓病学会雑誌 23(2), 123-127, 2010
… ARPKD) における腎および肝病変の表現型と進行度は多様である。 … 当院のARPKD 10例について，腎障害と肝合併症の臨床像を検討したので報告する。 … ARPKDの治療では，腎機能障害の進行度，および肝合併症の病態に応じた治療計画を立てる必要性が示された。 …
NAID 130000814251

常染色体劣性多発性嚢胞腎(ARPKD)の2例の臨床経過の検討

神田杏子,貝藤裕史,野津寛大,松尾雅文,飯島一誠
日本小児腎不全学会雑誌 : 小児腎不全研究会記事 27, 60-62, 2007-08-31
NAID 10020116413

Related Pictures

★リンクテーブル★

リンク元	「100Cases 10」「多発性嚢胞腎」「腎嚢胞」「常染色体劣性多発性嚢胞腎」

「100Cases 10」

Polycystic Kidney Disease
	Classification and external resources
ICD-10	Q61
ICD-9	753.1
OMIM	263200
DiseasesDB	10280
MedlinePlus	000502
eMedicine	radio/69
MeSH	D017044
GeneReviews	Polycystic Kidney Disease, Autosomal Recessive;

　　[★]

☆case10　背痛

■症例

27歳　女性

主訴：背中に突き抜ける？痛み(pain across her back)

現病歴：背中に広がる痛みを訴えて、27歳の女性が救急部に運ばれてきた。２日前に熱が出て背部痛が始まり、以降調子が悪い。痛みは増強している。6時間前に2度嘔吐した。

既往歴：3ヶ月前に合併症のない胆嚢炎。

・身体診断

調子が悪そうであり、紅潮している。体温：39.2℃。脈拍：120/分。血圧：104/68 mmHg。心血管系、呼吸器系に異常を認めず。腹部：全体的に圧痛。両側の腰部で著明な圧痛。

・検査

(血液生化学)

白血球↑、血清尿素↑、CRP↑

(尿検査)

タンパク：++、鮮血：+++、亜硝酸塩：++

尿の顕微鏡検査：(おそらく400倍の一視野に)赤血球>50、白血球>50

腹部X線：正常

■glossary

loin n. (pl)腰、腰部(→(adj.)lumbar)。(獣の)腰肉、ロイン。(pl)陰部、生殖器、性器

腸雑音、腸音、intestinal murmur、intestinal sound、bowel sound

urine microscopy 尿の顕微鏡検査

dysuria 排尿障害

urgency n. 切迫、急迫、危急。緊急、火急、焦眉の急。[pl]しつこい要求、懇願。せき立てる力、刺激

hydronephrosis 水腎症

-nephros 腎臓

-stomy 開口術

nephrostomy n. 腎瘻造設術、腎造瘻術、腎瘻術

obstructive urophathy 閉鎖性尿路疾患

intravenous fluid 静脈内輸液

commence vt. 始める、開始する。 vi. ～から始める、始まる(with)

urgently

eradication n. 根絶、撲滅

mimic vt. ～の物まねをする、まねて馬鹿にする。そっくりに[卑屈に]まねる。～によく似る

renal ultrasound 腎臓超音波検査

obstructive uropathy 閉塞性尿路疾患

polycystic kidney disease 多発性嚢胞腎

medullary sponge kidney 海綿腎

loin-pain hematuria syndrome 腰痛血尿症候群

■解説

(第1パラグラフ)疫学

　急性腎盂腎炎：男性より女性でmore common。尿路からの細菌の上行感染。リスク：妊娠、糖尿病、免疫低下者、尿路奇形(尿の腎臓への逆流。そして多分、狭窄していたりして結石で閉塞されやすいこともあると思う)

(第2パラグラフ)病態

　食欲不振、悪心、嘔吐と共に40℃の発熱が出ることがある。

　腎盂腎炎患者の中には膀胱炎の先行症状(排尿障害、頻尿、尿意切迫、血尿)がある人がいるけど、こういう下部尿路症状がいつも出現するわけではない。

　多くの腎盂腎炎患者は、先行する6ヶ月以内の膀胱炎の既往がある。

　老人の場合、非典型的な症状を示し、そして混乱した状態でやってくる。

　腎盂腎炎は他の病態によく似ている：急性虫垂炎、急性胆嚢炎、急性膵炎、下葉の肺炎

　普通、体表から見て腎臓の直上に前からも後ろからも圧痛を感じる。

　未治療の腎盂腎炎では敗血症になるかもしれない。

(第3パラグラフ)本ケースについて

　・CRP 上昇は急性感染症を示唆

　・顕微鏡的血尿・タンパク尿、白血球増多は尿路の炎症を示す。

　・硝酸塩(nitrate, HNO3と何かの塩)から亜硝酸塩(nitrite, HNO2と何かの塩)への還元により細菌の存在が確認される。

　　覚え方：亜硝酸は(Oが一つ)足らないi(愛)

　　でも複雑です。

　　　HNO2　亜硝酸 nitrous acid, nitrite　。亜硝酸塩 nitrite

　　　HNO3　硝酸 nitric acid, nitrate　　。硝酸塩 nitrate

(第4パラグラフ)管理

　・女性は入院すべき。

　・血液と尿の採取

　・静脈内輸液＋抗生物質で治療開始。微生物が同定されたら、感受性のある抗菌薬を使用する。初期治療ではゲンタマイシン、アンピシリン、シプロフロキサシンを用いる

　・腎臓エコー検査：尿路閉塞を除外するため。閉塞性尿路疾患では、激しい痛み、発熱、敗血症ショック、腎不全を伴う脳腎症を起こしうる。

　・尿路敗血症の経過で水腎症が疑われたら、合併症を防ぐために緊急に腎瘻を造設すべき

(第5パラグラフ)薬物治療

　・(腎結石など合併していない)腎感染症(ucomplicated renal infection)患者は抗生物質2週間のコースで治療すべき。

　・感染の根絶を確実にする治療が終わった後10-14日間は、反復して細菌培養をする。＜

　・尿路結石を有する感染症や腎瘢痕を有する患者では抗生物質6週間のコースが用いられる。

■鑑別診断のポイント

　腎盂腎炎は片側性、あるいは両側性の腰痛を引き起こす。

　腰部痛の鑑別診断：

　　閉塞性尿路疾患

　　腎梗塞：心疾患などで生じた血栓が腎動脈またはその分枝を閉塞し、その血管の支配領域が虚血性壊死に陥った状態。

　　腎細胞癌：腎尿細管上皮細胞より発生する悪性腫瘍

　　腎乳頭壊死：腎乳頭より腎髄質にかけて、その支配動脈の虚血により壊死を来したもの。主として基礎疾患に糖尿病を有する人にみられ、しばしば急性腎盂腎炎などの尿路感染に伴って発症する。

　　腎結石：

　　糸球体腎炎：

　　多発性嚢胞腎：先天性かつ両側性に腎実質内に大小無数の嚢胞を発生する。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

　　海綿腎：腎錐体における集合管の先天性嚢状拡張症。症状としては拡張した集合管に尿の停滞　→　感染・細かな結石ができる。

　　腰痛血尿症候群：若年女性に好発し、反復して出現する腰部から側腹部の強い疼痛と血尿を主徴とする病因不明の疾患。肉眼的血尿や軽度の蛋白尿がみられることもあるが、特異的な検査所見はなく、診断は他疾患の除外診断による

■KEYPOINT

・急性腎盂腎炎は下部尿路症状があったり無かったりする。

・腎臓超音波検査は尿路閉塞を否定するために、入院24時間後に行うべき。

・抗菌薬は、再発のリスクを最小限にするために、少なくとも2週間継続すべき。

□閉塞性尿路疾患(http://merckmanual.jp/mmpej/sec17/ch229/ch229a.htmlより引用)

閉塞性尿路疾患は正常な尿流を構造的または機能的に妨げ，ときに腎機能不全（閉塞性腎症）を起こすことがある。症状は，慢性の閉塞では認められないこともあるが，T11からT12にかけての皮膚分節に放散する疼痛，無尿，夜間頻尿または多尿がある。診断は閉塞のレベルによって，膀胱カテーテル法，超音波検査，CT，膀胱尿道鏡検査，膀胱尿道撮影または腎盂造影に基づく。治療は原因によって異なり，迅速なドレナージ，器具使用，外科手術（例，内視鏡法，砕石術）および/またはホルモン療法を必要とする場合がある。

□KUBの陰影から尿路結石成分の推定

　リン酸カルシウム(22.0)

　シュウ酸カルシウム(10.8)：シュウ酸カルシウム結石は，尿路結石のうちで最も頻度が高く（70～80％），シュウ酸カルシウム結石の約半数はリン酸カルシウムとの混合結石である。

　リン酸マグネシウムアンモニウム(4.1)：ストラバイト結石：尿素分解菌(Proteus　、Klebsiella　、Pseudomonas　)による尿路感染が原因で、尿素が分解されアンモニアとなると尿がアルカリ性となり、リン酸マグネシウムアンモニウム結石が形成される。

　シスチン(3.7)：ホモシスチン尿症

　尿酸(1.4)：痛風

　キサンチン(1.4)：プリン体

□多嚢胞腎

　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

「多発性嚢胞腎」

　　[★]

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]

「腎嚢胞」

　　[★]

英: renal cyst, cystic disease of the kidney

「常染色体劣性多発性嚢胞腎」

　　[★]

英: autosomal recessive polycystic kidney disease, ARPKD
同: 常染色体劣性遺伝多発性嚢胞腎、常染色体劣性嚢胞腎、幼児型嚢胞腎 infantile type of polycystic kidney disease
関: 腎嚢胞 renal cyst

[pmid15706593-0] Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K (March 2005). "Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)". Hum. Mutat. 25 (3): 225–31. doi:10.1002/humu.20145. PMID 15706593.

[pmid14983006-1] Zhang MZ, Mai W, Li C, et al. (February 2004). "PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells". Proc. Natl. Acad. Sci. U.S.A. 101 (8): 2311–6. doi:10.1073/pnas.0400073101. PMC 356947. PMID 14983006. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=14983006.

[pmid8465860-2] Gillessen-Kaesbach G, Meinecke P, Garrett C, Padberg BC, Rehder H, Passarge E (February 1993). "New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects". Am. J. Med. Genet. 45 (4): 511–8. doi:10.1002/ajmg.1320450422. PMID 8465860.

[Bisceglia_2006_26.E2.80.9356-3] Bisceglia, M; et al (2006). "Renal cystic diseases: a review". Advanced Anatomic Pathology (13): 26–56.

[4] Sweeney, WE; Avner ED (2006). "Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPDK)". Cell Tissue Research (326): 671–685.

匿名

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案内

案内

ARPKD