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]
Cardiovascular complications may include high blood pressure or hypertension, cerebral aneurysms, and mitral valve prolapse (MVP).[2] MVP is present in approximately 26% of people who have ADPKD compared to 2%-3% of the general population.[2] Symptoms associated with MVP are heart palpitations, a feeling that the heart is fluttering or racing, and chest pain that is not associated with exercise or exertion.[2] Also, people with ADPKD have approximately a 5%-10% risk of developing intracranial aneurysms.[2] The symptoms of a ruptured aneurysm include sudden severe headache, pain in moving the neck, nausea and vomiting, and loss of consciousness.[2] A person experiencing an intracranial aneurysm will require immediate medical attention as it is a medical emergency.[2] According to the PKD Foundation website, "Patients with ADPKD and a family history of intracranial aneurysms have a higher incidence of developing an aneurysm (22%) and should be screened more frequently."[2]
Many people with ADPKD develop liver cysts; however, they rarely occur in those under the age of 30.[2] Liver cysts tend to develop and grow in size as the person ages.[2] Though this leads to an increase in the size of the liver, the amount of functioning liver tissue remains relatively unvarying.[2] Both genders are susceptible to liver cysts; however women tend to present with cysts at a younger age while men tend to present with more progressive liver disease.[2] Pregnancy is a factor that increases the likelihood and size of liver cysts in women with PKD.[2]
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Etiology/Causes[edit | edit source]
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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.
- ↑ 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 2.13 2.14 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).
