Polycystic kidney disease overview: Difference between revisions
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==Overview== | ==Overview== | ||
Autosomal dominant polycystic kidney disease (ADPKD), previously known as adult polycystic kidney disease, is a systemic disorder characterized primarily by multiple, bilateral renal cysts, cysts in other organs namely the liver and pancreas, and cardiovascular abnormalities including intracranial aneurysms and mitral valve prolapse.<ref name="NBK1326">Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. 2002 Jan 10 [Updated 2011 Dec 8]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1246/</ref> ADPKD is one of the most common inherited disorders worldwide almost 15 times more common than cystic fibrosis in the general population.<ref name="pmid8321262">{{cite journal| author=Gabow PA| title=Autosomal dominant polycystic kidney disease. | journal=N Engl J Med | year= 1993 | volume= 329 | issue= 5 | pages= 332-42 | pmid=8321262 | doi=10.1056/NEJM199307293290508 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8321262 }} </ref> It accounts for up to 3-5% of ESRD cases yearly.<ref>U.S. Renal Data System, [http://www.usrds.org/adr.aspx|USRDS 2013 Annual Data Report: Atlas of Chronic Kidney Disease and End-Stage Renal Disease in the United States], National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 2013.</ref> Classically, ADPKD presents with hypertension and varying degrees of renal insufficiency. Around half of the patients diagnosed with ADPKD will reach end-stage renal disease (ESRD) by the age of 60 years.<ref name="NBK1326">Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. 2002 Jan 10 [Updated 2011 Dec 8]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1246/</ref> Still, disease manifestation and severity is highly variable among patients even those within the same family.<ref name="pmid8321262">{{cite journal| author=Gabow PA| title=Autosomal dominant polycystic kidney disease. | journal=N Engl J Med | year= 1993 | volume= 329 | issue= 5 | pages= 332-42 | pmid=8321262 | doi=10.1056/NEJM199307293290508 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8321262 }} </ref> | Autosomal dominant polycystic kidney disease (ADPKD), previously known as adult polycystic kidney disease, is a systemic disorder characterized primarily by multiple, bilateral renal cysts, cysts in other organs namely the liver and pancreas, and cardiovascular abnormalities including intracranial aneurysms and mitral valve prolapse.<ref name="NBK1326">Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. 2002 Jan 10 [Updated 2011 Dec 8]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1246/</ref> ADPKD is one of the most common inherited disorders worldwide almost 15 times more common than cystic fibrosis in the general population.<ref name="pmid8321262">{{cite journal| author=Gabow PA| title=Autosomal dominant polycystic kidney disease. | journal=N Engl J Med | year= 1993 | volume= 329 | issue= 5 | pages= 332-42 | pmid=8321262 | doi=10.1056/NEJM199307293290508 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8321262 }} </ref> It accounts for up to 3-5% of ESRD cases yearly.<ref>U.S. Renal Data System, [http://www.usrds.org/adr.aspx|USRDS 2013 Annual Data Report: Atlas of Chronic Kidney Disease and End-Stage Renal Disease in the United States], National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 2013.</ref> Classically, ADPKD presents with hypertension and varying degrees of renal insufficiency. Around half of the patients diagnosed with ADPKD will reach end-stage renal disease (ESRD) by the age of 60 years.<ref name="NBK1326">Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. 2002 Jan 10 [Updated 2011 Dec 8]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1246/</ref> Still, disease manifestation and severity is highly variable among patients even those within the same family.<ref name="pmid8321262">{{cite journal| author=Gabow PA| title=Autosomal dominant polycystic kidney disease. | journal=N Engl J Med | year= 1993 | volume= 329 | issue= 5 | pages= 332-42 | pmid=8321262 | doi=10.1056/NEJM199307293290508 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8321262 }} </ref> | ||
==Historical Perspective== | |||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | |||
==Differentiating Xyz from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
==Diagnosis== | |||
===Diagnostic Study of Choice=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Electrocardiogram=== | |||
===X-ray=== | |||
===Echocardiography and Ultrasound=== | |||
===CT scan=== | |||
===MRI=== | |||
===Other Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Primary Prevention=== | |||
===Secondary Prevention=== | |||
==References== | ==References== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Serge Korjian, Yazan Daaboul
Overview
Autosomal dominant polycystic kidney disease (ADPKD), previously known as adult polycystic kidney disease, is a systemic disorder characterized primarily by multiple, bilateral renal cysts, cysts in other organs namely the liver and pancreas, and cardiovascular abnormalities including intracranial aneurysms and mitral valve prolapse.[1] ADPKD is one of the most common inherited disorders worldwide almost 15 times more common than cystic fibrosis in the general population.[2] It accounts for up to 3-5% of ESRD cases yearly.[3] Classically, ADPKD presents with hypertension and varying degrees of renal insufficiency. Around half of the patients diagnosed with ADPKD will reach end-stage renal disease (ESRD) by the age of 60 years.[1] Still, disease manifestation and severity is highly variable among patients even those within the same family.[2]
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Xyz from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography and Ultrasound
CT scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
References
- ↑ 1.0 1.1 Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. 2002 Jan 10 [Updated 2011 Dec 8]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1246/
- ↑ 2.0 2.1 Gabow PA (1993). "Autosomal dominant polycystic kidney disease". N Engl J Med. 329 (5): 332–42. doi:10.1056/NEJM199307293290508. PMID 8321262.
- ↑ U.S. Renal Data System, 2013 Annual Data Report: Atlas of Chronic Kidney Disease and End-Stage Renal Disease in the United States, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 2013.