Polycystic Kidney Disease
Original Editors - Emily Hartman from Bellarmine University's Pathophysiology of Complex Patient Problems project.
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Definition/Description[edit | edit source]
Polycystic Kidney Disease (PKD) is a genetic kidney disease which causes large benign cysts to form on the kidneys. The cysts are fluid filled cavities (seen in Figure 1) that can ultimately impede kidney function leading to degeneration of renal tissue and renal failure.
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Cysts can range anywhere from microscopic in size to several centimeters in diameter.
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A cyst begins as a protrusion of the nephron and can occur anywhere along its length.
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Most cysts detach from the nephron, and eventually enlarge and fill with either clear fluid or fluid that contains blood or white blood cells.
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There are two types of PKD; autosomal dominant and autosomal recessive. Autosomal dominant PKD, or ADPKD, is the most common form of PKD and typically manifests itself in middle aged adults while autosomal recessive PKD is less common and typically manifests itself in childhood. Autosomal recessive PKD is the more serious form and often leads to death in infancy or early childhood.
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For a person to inherit ADPKD, it takes a mutated gene from only one parent, while it takes a mutated gene from both parents for a person to inherit ARPKD (see Figures 2 and 3).
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Prevalence[edit | edit source]
ADPKD affects approximately 600,000 Americans; however, the number could actually be higher as many adults who have PKD do not yet exhibit symptoms. [4] Each child born to a parent with the gene for ADPKD has a 50% chance of inheriting the disease. [3] Approximately 10% of those in end stage renal failure have ADPKD. [1]
Characteristics/Clinical Presentation[edit | edit source]
People with ADPKD may not know they have the disease because their symptoms have not yet manifested themselves. ADPKD signs and symptoms typically begin to show themselves between the ages of 30 and 40.[4]
Symptoms/Signs for PKD include[5]:
• high blood pressure
• back or side pain related to enlarged kidneys
• headache
• increase in the size of the abdomen due to enlarged kidneys ( see Figures 4 and 5)
• blood or protein in the urine
• frequent urination
• kidney stones
• kidney failure
• urinary tract or kidney infections
Symptoms that are also associated with PKD include[3]:
• drowsiness
• joint pain
• nail abnormalities
• painful menstruation
Associated Co-morbidities[edit | edit source]
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Medications[edit | edit source]
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Etiology/Causes[edit | edit source]
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Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Resources
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References[edit | edit source]
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- ↑ 1.0 1.1 1.2 Goodman CC, Fuller KS, Boissonnault WG. Pathology: implications for the physical therapist. 2nd ed. Philadelphia, PA: Saunders; 1998.
- ↑ 2.0 2.1 2.2 PKD Foundation. The Science of PKD. http://www.pkdcure.org/tabid/1354/Default.aspx (accessed 5 March 2011).
- ↑ 3.0 3.1 3.2 National Center for Biotechnology Information, U.S. National Library of Medicine. Polycystic kidney disease. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001531 (accessed 5 March 2011).
- ↑ 4.0 4.1 National Kidney Foundation. Polycystic Kidney Disease. http://www.kidney.org/atoz/content/polycystic.cfm (accessed 5 March 2011).
- ↑ Mayo Clinic. Polycystic kidney disease. http://www.mayoclinic.com/health/polycystic-kidney-disease/DS00245/DSECTION=symptoms (accessed 5 March 2011).