As a result of polycystic kidney disease (PKD), multiple cysts develop in the kidneys, a condition inherited from the father. These cysts can gradually enlarge over time, resulting in the increase in kidney size and impairment of kidney function. High blood pressure, kidney stones, and kidney failure can all result from PKD.
Causes
Genetic mutations affect the development and function of the kidneys, resulting in polycystic kidney disease. There are two main types of PKD:
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PKDs that are inherited from either of the PKD1 or PKD2 genes are called Autosomal Dominant Polycystic Kidney Diseases (ADPKD). In order to develop the disease, a person only needs to inherit one copy of a defective gene from either parent in an autosomal dominant pattern.
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Autosomal Recessive Polycystic Kidney Disease (ARPKD): This rare form of PKD is caused by mutations in the PKHD1 gene. Unlike ADPKD, ARPKD is inherited in an autosomal recessive pattern, meaning a person must inherit two copies of the defective gene (one from each parent) in order to develop the condition.
Symptoms
Polycystic kidney disease may cause the following symptoms:
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Cysts in the kidneys can cause pain in the back, sides, or abdomen.
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Hypertension (high blood pressure) is a common PKD complication and can further damage the kidneys.
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Cysts in the kidneys can increase the risk of developing kidney stones, which can cause pain, urinary tract infections, or blood in the urine.
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A decline in kidney function can result in symptoms such as fatigue, weakness, swelling, or changes in urination patterns as PKD progresses.
Diagnosis
Medical history, physical examination, imaging studies, and laboratory tests are typically used to diagnose polycystic kidney disease. Common diagnostic tests include:
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Cysts can be visualized and assessed using ultrasound imaging of the kidneys.
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An additional imaging study, such as computed tomography (CT) or magnetic resonance imaging (MRI) may be performed to determine the extent of cystic involvement and any complications.
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For individuals with a family history of PKD, genetic testing may be recommended in order to identify specific genetic mutations associated with the disease.
Treatment
The treatment for polycystic kidney disease focuses on managing symptoms, slowing the progression of kidney damage, and preventing complications. Treatment options include:
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Angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs) may be prescribed to help protect the kidneys and reduce further damage.
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In order to alleviate discomfort associated with enlarged cysts, pain medications or interventions may be recommended, such as cyst aspiration or drainage.
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In advanced cases of PKD where kidney function is significantly impaired, dialysis or kidney transplantation may be necessary to replace lost kidney function.
Prevention
As polycystic kidney disease is genetic, there are no specific measures to prevent it. In order to delay disease progression and reduce complications, early detection of PKD through genetic testing and screening of at-risk individuals with a family history of PKD may be helpful in identifying affected individuals and establishing appropriate management strategies.
