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| __NOTOC__ | | __NOTOC__ |
| {{DiseaseDisorder infobox |
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| Name = Polycystic Kidney Disease |
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| ICD10 = {{ICD10|Q|61||q|60}} |
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| ICD9 = {{ICD9|753.1}} |
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| ICDO = |
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| Image = Polycystic kidneys, gross pathology 20G0027 lores.jpg |
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| Caption = Polycystic kidneys |
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| OMIM = 173900 |
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| MedlinePlus = 000502 |
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| DiseasesDB = 10262 |
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| DiseasesDB_mult= {{DiseasesDB2|10280}} |
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| MeshID = D007690 |
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| }}
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| {{Polycystic kidney disease}} | | {{Polycystic kidney disease}} |
| '''For patient information page, click [[{{PAGENAME}} (patient information)|here]] | | '''For patient information page, click [[{{PAGENAME}} (patient information)|here]]''' |
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| {{SCC}} | | {{CMG}}; {{AE}} {{MKA}}, [[User:Sergekorjian|Serge Korjian]], [[User:YazanDaaboul| Yazan Daaboul]] |
| '''Contributors:''' [[User:zorkun|Cafer Zorkun]] M.D., PhD.
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| {{SK}} Polycystic kidney syndrome; polycystic kidney; PKD | | {{SK}} Polycystic kidney syndrome; polycystic kidney; PKD; autosomal dominant polycystic kisney disease; ADPKD; autosomal recessive polycystic kidney disease; ARPKD |
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| ==[[Polycystic kidney disease overview|Overview]]== | | ==[[Polycystic kidney disease overview|Overview]]== |
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| ==[[Polycystic kidney disease pathophysiology|Pathophysiology]]== | | ==[[Polycystic kidney disease historical perspective|Historical perspective]]== |
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| ==[[Polycystic kidney disease epidemiology and demographics|Epidemiology & Demographics]]== | | ==[[Polycystic kidney disease classification|Classification]]== |
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| ==[[Polycystic kidney disease differential diagnosis|Differentiating Polycystic kidney disease from Other Diseases]]== | | ==[[Polycystic kidney disease pathophysiology|Pathophysiology]]== |
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| ==Polycystic kidney disease natural history|Natural History, Complications & Prognosis]]==
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| ==Diagnosis==
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| A definite diagnosis of ADPKD relies on imaging or molecular [[genetic testing]]. The sensitivity of testing is nearly 100% for all patients with ADPKD who are age 30 years or older and for younger patients with PKD1 mutations; these criteria are only 67% sensitive for patients with PKD2 mutations who are younger than age 30 years. Large [[echogenic]] kidneys without distinct macroscopic cysts in an infant/child at 50% risk for ADPKD are diagnostic. In the absence of a family history of ADPKD, the presence of bilateral renal enlargement and cysts, with or without the presence of [[hepatic]] cysts, and the absence of other manifestations suggestive of a different renal cystic disease provide presumptive, but not definite, evidence for the diagnosis.
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| Molecular [[genetic testing]] by [[linkage analysis]] or direct mutation screening is available clinically; however, genetic heterogeneity is a significant complication to molecular genetic testing. Sometimes a relatively large number of affected family members need to be tested in order to establish which one of the two possible genes is responsible within each family. The large size and complexity of PKD1 and PKD2 [[gene]]s, as well as marked allelic heterogeneity, present obstacles to molecular testing by direct DNA analysis. In the research setting, [[mutation]] detection rates of 50-75% have been obtained for PKD1 and ~75% for PKD2. Clinical testing of the PKD1 and PKD2 genes by direct [[sequence analysis]] is now available, with a detection rate for disease-causing mutations of 50-70%.
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| [[Genetic counseling]] may be helpful for families at risk for polycystic kidney disease.
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| ==Diagnostic Findings==
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| ===Autosomal recessive form===
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| ====USG====
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| * At USG, the kidneys are massively enlarged and diffusely echogenic bilaterally.
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| * Corticomedullary differentiation is absent.
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| * High-resolution USG (linear-array transducer, 7.5 mHz or greater) allows visualization of numerous cylindrical cysts in the medulla and cortex, which represent ectatic collecting ducts.
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| [http://www.radswiki.net Images courtesy of RadsWiki]
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| [[Image:Autosomal-recessive-polycystic-kidney-disease-001.jpg|thumb|left|350px|MRI demonstrates typical imaging features of autosomal recessive polycystic kidney disease]]
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| <br clear="left"/>
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| [[Image:Autosomal-recessive-polycystic-kidney-disease-002.jpg|thumb|left|350px|MRI demonstrates typical imaging features of autosomal recessive polycystic kidney disease]]
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| <br clear="left"/>
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| [[Image:Autosomal-recessive-polycystic-kidney-disease-003.jpg|thumb|left|350px|MRI demonstrates typical imaging features of autosomal recessive polycystic kidney disease]]
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| ===Autosomal dominant form===
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| * Multiple, variably sized cortical and medullary based cysts
| | ==[[Polycystic kidney disease causes|Causes]]== |
| * Renomegaly
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| * Hemorrhagic cysts are often present
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| [http://www.radswiki.net Images courtesy of RadsWiki] | | ==[[Polycystic kidney disease epidemiology and demographics|Epidemiology and Demographics]]== |
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| '''Patient #1'''
| | ==[[Polycystic kidney disease differentiating polycystic kidney disease from other diseases|Differentiating Polycystic kidney disease from Other Diseases]]== |
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| [[Image:Autosomal Dominant-polycystic-kidney-disease-001.jpg|thumb|left|350px|Autosomal dominant form of polycystic kidney disease | | ==[[Polycystic kidney disease risk factor|Risk Factors]]== |
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| [[Image:Autosomal Dominant-polycystic-kidney-disease-002.jpg|thumb|left|350px|Autosomal dominant form of polycystic kidney disease | | ==[[Polycystic kidney disease screening|Screening]]== |
| ]] | |
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| [[Image:Autosomal Dominant-polycystic-kidney-disease-003.jpg|thumb|left|350px|Autosomal dominant form of polycystic kidney disease
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| ]]
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| [[Image:Autosomal Dominant-polycystic-kidney-disease-004.jpg|thumb|left|350px|Autosomal dominant form of polycystic kidney disease | | ==[[Polycystic kidney disease natural history|Natural History, Complications and Prognosis]]== |
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| <br clear="left"/>
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| [[Image:Autosomal Dominant-polycystic-kidney-disease-005.jpg|thumb|left|350px|Autosomal dominant form of polycystic kidney disease | | ==[[Polycystic kidney disease diagnosis|Diagnosis]]== |
| ]] | | [[Polycystic kidney disease diagnostic study of choice|Diagnostic Study of Choice]] | [[Polycystic kidney disease history and symptoms|History and Symptoms]] | [[Polycystic kidney disease physical examination|Physical Examination]] | [[Polycystic kidney disease laboratory findings|Laboratory Findings]] | [[Polycystic kidney disease electrocardiogram|Electrocardiogram]] | [[Polycystic kidney disease CT|CT]] | [[Polycystic kidney disease MRI|MRI]] | [[Polycystic kidney disease ultrasound|Ultrasound]] | [[Polycystic kidney disease other imaging findings|Other Imaging Findings]] | [[Polycystic kidney disease other diagnostic studies|Other Diagnostic Studies]] |
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| '''Patient #2'''
| | ==[[Polycystic kidney disease treatment|Treatment]]== |
| | :[[Polycystic kidney disease medical therapy|Medical Therapy]] | [[Polycystic kidney disease surgery|Surgery]] | [[Polycystic kidney disease primary prevention|Primary Prevention]] | [[Polycystic kidney disease secondary prevention|Secondary Prevention]] | [[Polycystic kidney disease future or investigational therapies|Future or Investigational Therapies]] |
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| [[Image:Polycystic-kidneys-001.jpg|thumb|left|350px|Autosomal dominant form of polycystic kidney disease]]
| | ==Case Studies== |
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| | [[Polycystic kidney disease case study one|Case #1]] |
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| [[Image:Polycystic-kidneys-002.jpg|thumb|left|350px|Autosomal dominant form of polycystic kidney disease]]
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| <br clear="left"/>
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| [[Image:Polycystic-kidneys-003.jpg|thumb|left|350px|Autosomal dominant form of polycystic kidney disease]]
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| '''Patient #3'''
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| [[Image:Autosomal dominant polycystic kidney disease 101.jpg|thumb|left|350px|Autosomal dominant form of polycystic kidney disease
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| <br clear="left"/>
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| [[Image:Autosomal dominant polycystic kidney disease 102.jpg|thumb|left|350px|Autosomal dominant form of polycystic kidney disease | |
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| <br clear="left"/>
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| '''Patient #4'''
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| [[Image:adpkd3011163.jpg|thumb|left|350px|Autosomal dominant form of polycystic kidney disease]]
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| ==Treatment==
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| Although a cure for PKD is not available, treatment can ease the symptoms and prolong life.
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| * [[Pain]]: Over-the-counter pain medications, such as [[paracetamol]] can relieve pain. For most but not all cases of severe pain, surgery to shrink cysts can relieve pain in the back and flanks. However, surgery provides only temporary relief and usually does not slow the disease's progression toward [[kidney failure]].
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| * [[Urinary tract infection]]s: Patients with PKD tend to have frequent urinary tract infections, which can be treated with [[antibiotic]]s. Early treatment is important, because infection can spread from the urinary tract to the cysts in the kidneys. Cyst infections are difficult to treat because many antibiotics do not penetrate into the cysts. However, some antibiotics are effective.
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| * [[High blood pressure]]: Keeping blood pressure under control can slow the effects of PKD. Lifestyle changes and various medications can lower high blood pressure.
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| * [[End-stage renal disease]]: There are two options for replacing kidney functions: [[dialysis]] or [[Kidney_transplant|transplantation]]. Healthy (non-PKD) kidneys transplanted into PKD patients do not develop cysts.
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| ==Pathological Findings==
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| [http://www.peir.net Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology]
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| [[Image:Infantile polycystic disease.jpg|thumb|left|350px|Infantile polycystic disease: Gross natural color view of both kidneys with ureters and uterus (very good example) ]]
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| ===Adult type Polycystic kidney disease===
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| <youtube v=6Ws9cfsjZIk/>
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| ==Resources==
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| The [http://www.pkdcure.org PKD Foundation] is the only non-profit organization worldwide dedicated solely to PKD research.
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| Parent of two children with ARPKD blog: www.kidneysandeyes.com
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| ==References==
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| <references/>
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| * {{cite journal |author=Nauli SM, Zhou J |title=Polycystins and mechanosensation in renal and nodal cilia |journal=Bioessays |volume=26 |issue=8 |pages=844-56 |year=2004 |pmid=15273987 |doi=10.1002/bies.20069}}
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| * {{cite journal |author=Grantham JJ, Torres VE, Chapman AB, ''et al'' |title=Volume progression in polycystic kidney disease |journal=N. Engl. J. Med. |volume=354 |issue=20 |pages=2122-30 |year=2006 |pmid=16707749 |doi=10.1056/NEJMoa054341}}
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| ==External links== | | ==External links== |
| *http://www.ncbi.nlm.nih.gov/disease/PKD.html | | *http://www.ncbi.nlm.nih.gov/disease/PKD.html |
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| {{Congenital malformations of genital organs and urinary system}} | | {{Congenital malformations of genital organs and urinary system}} |
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| [[Category:Urology]] | | [[Category:Urology]] |
| [[Category:Channelopathy]] | | [[Category:Channelopathy]] |
| | [[Category:Disease]] |
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| {{WH}} | | {{WH}} |
| {{WS}} | | {{WS}} |