Polycystic kidney disease: Difference between revisions

Jump to navigation Jump to search
No edit summary
 
(27 intermediate revisions by 5 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{DiseaseDisorder infobox |
  Name          = Polycystic Kidney Disease |
  ICD10          = {{ICD10|Q|61||q|60}} |
  ICD9          = {{ICD9|753.1}} |
  ICDO          = |
  Image          = Polycystic kidneys, gross pathology 20G0027 lores.jpg |
  Caption        = Polycystic kidneys |
  OMIM          = 173900 |
  MedlinePlus    = 000502 |
  DiseasesDB    = 10262 |
  DiseasesDB_mult= {{DiseasesDB2|10280}} |
  MeshID        = D007690 |
}}
{{Polycystic kidney disease}}
{{Polycystic kidney disease}}
'''For patient information page, click [[{{PAGENAME}} (patient information)|here]]
'''For patient information page, click [[{{PAGENAME}} (patient information)|here]]'''


{{CMG}}; {{AE}} [[User:zorkun|Cafer Zorkun]] M.D., PhD.
{{CMG}}; {{AE}} {{MKA}}, [[User:Sergekorjian|Serge Korjian]], [[User:YazanDaaboul| Yazan Daaboul]]


{{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


==[[Polycystic kidney disease overview|Overview]]==
==[[Polycystic kidney disease overview|Overview]]==
==[[Polycystic kidney disease historical perspective|Historical perspective]]==
==[[Polycystic kidney disease classification|Classification]]==


==[[Polycystic kidney disease pathophysiology|Pathophysiology]]==
==[[Polycystic kidney disease pathophysiology|Pathophysiology]]==


==[[Polycystic kidney disease epidemiology and demographics|Epidemiology & Demographics]]==
==[[Polycystic kidney disease causes|Causes]]==


==[[Polycystic kidney disease differential diagnosis|Differentiating Polycystic kidney disease from Other Diseases]]==
==[[Polycystic kidney disease epidemiology and demographics|Epidemiology and Demographics]]==


==[[Polycystic kidney disease natural history|Natural History, Complications & Prognosis]]==
==[[Polycystic kidney disease differentiating polycystic kidney disease from other diseases|Differentiating Polycystic kidney disease from Other Diseases]]==


==Diagnosis==
==[[Polycystic kidney disease risk factor|Risk Factors]]==


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.
==[[Polycystic kidney disease screening|Screening]]==


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%.


[[Genetic counseling]] may be helpful for families at risk for polycystic kidney disease.
==[[Polycystic kidney disease natural history|Natural History, Complications and Prognosis]]==


===Adult type 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]]


<youtube v=6Ws9cfsjZIk/>
==[[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]]


==Resources==
==Case Studies==
The [http://www.pkdcure.org PKD Foundation] is the only non-profit organization worldwide dedicated solely to PKD research.
[[Polycystic kidney disease case study one|Case #1]]
Parent of two children with ARPKD blog: www.kidneysandeyes.com


==External links==
==External links==
*http://www.ncbi.nlm.nih.gov/disease/PKD.html
*http://www.ncbi.nlm.nih.gov/disease/PKD.html


{{Congenital malformations of genital organs and urinary system}}
{{Congenital malformations of genital organs and urinary system}}
Line 57: Line 47:
[[Category:Urology]]
[[Category:Urology]]
[[Category:Channelopathy]]
[[Category:Channelopathy]]
[[Category:Disease]]


{{WH}}
{{WH}}
{{WS}}
{{WS}}

Latest revision as of 15:30, 25 July 2018

Polycystic kidney disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Polycystic kidney disease from other Diseases

Epidemiology and Demographics

Risk Factor

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

Future or Investigational Therapies

Case Studies

Case #1

Polycystic kidney disease On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Polycystic kidney disease

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Polycystic kidney disease

CDC on Polycystic kidney disease

Polycystic kidney disease in the news

Blogs on Polycystic kidney disease

Directions to Hospitals Treating Polycystic kidney disease

Risk calculators and risk factors for Polycystic kidney disease

For patient information page, click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2], Serge Korjian, Yazan Daaboul

Synonyms and keywords: Polycystic kidney syndrome; polycystic kidney; PKD; autosomal dominant polycystic kisney disease; ADPKD; autosomal recessive polycystic kidney disease; ARPKD

Overview

Historical perspective

Classification

Pathophysiology

Causes

Epidemiology and Demographics

Differentiating Polycystic kidney disease from Other Diseases

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | CT | MRI | Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Future or Investigational Therapies

Case Studies

Case #1

External links

Template:Cystic diseases

Template:WH Template:WS