Polycystic kidney disease overview
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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
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]
Classification
There is no established system for the classification of polycystic kidney disease. There are 2 types of polycystic kidney disease, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). ADPKD has 2 major types ADPKD1 due to PDK1 mutation, and ADPKD2 due to PDK2 mutation. A third subtype can be considered in patients without any documented mutation. Autosomal recessive polycystic kidney disease (ARPKD) was previously known as infantile polycystic kidney disease and occurs mainly in children.
Pathophysiology
Causes
Polycystic kidney disease is a genetic disorder. Autosomal dominant polycystic kidney disease (ADPKD) is an autosomal dominant disorder due to the heterozygous inheritance of PKD1 (chromosome 16) or PKD2 (chromosome 4) gene mutations. Despite the disease being monogenic, phenotype is variable possibly due to a two-hit process, haploinsufficiency, or environmental factors. Autosomal recessive polycystic kidney disease (ARPKD) is caused by a mutation in the PKHD1 gene.
Differentiating Xyz from Other Diseases
Epidemiology and Demographics
The prevalence of autosomal dominant polycystic kidney disease (ADPKD) is approximately 100 - 250 per 100,000 individuals in the United States. The prevalence of ADPKD varies in different countries. The prevalence of autosomal recessive polycystic kidney disease (ARPKD) is approximately 5 per 100,000 children in the United States. The incidence increases with age for ADPKD. ARPKD commonly affects infants and children. Males and females are equally affected by ADPKD.
Risk Factors
There are no established risk factors for polycystic kidney disease. Since both autosomal dominant and autosomal recessive forms are genetic disorders, to review the genetic causes of polycystic kidney disease click here.
Screening
According to the Unified criteria for ultrasonographic diagnosis, screening for polycystic kidney disease by ultrasonography is recommended in at risk patients with family history of polycystic kidney disease. According to the kidney disease improving global outcomes (KDIGO), screening for polycystic kidney disease in children less than 18 years of age is not recommended. Serum creatinine, urinalysis and regular blood pressure measurements can also be implemented to test in these patients.
Natural History, Complications, and Prognosis
Diagnosis
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History and Symptoms
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Laboratory Findings
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Treatment
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Primary Prevention
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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.