Summary about Disease
Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. These cysts are filled with fluid and can eventually enlarge the kidneys, leading to kidney damage and potentially kidney failure. The two main types are autosomal dominant PKD (ADPKD), which is more common and usually manifests in adulthood, and autosomal recessive PKD (ARPKD), which is rarer and often presents in infancy or childhood.
Symptoms
Symptoms can vary depending on the type and severity of PKD. Common symptoms include:
High blood pressure
Back or side pain
Increased abdomen size
Blood in the urine
Frequent urinary tract infections
Kidney stones
Kidney failure
Headaches
Fatigue In ARPKD, infants may have respiratory distress and enlarged kidneys at birth.
Causes
PKD is primarily caused by genetic mutations.
ADPKD: Mutations in the PKD1 or PKD2 genes are the most common cause. Usually inherited from a parent, but can occur as a spontaneous new mutation.
ARPKD: Mutations in the PKHD1 gene cause ARPKD. Both parents must carry the gene for a child to be affected.
Medicine Used
There is no cure for PKD, but treatments can help manage symptoms and slow disease progression. Medications used include:
Tolvaptan: A vasopressin receptor antagonist that can slow the growth of kidney cysts in ADPKD.
Blood pressure medications: ACE inhibitors or ARBs are commonly used to control high blood pressure.
Antibiotics: To treat urinary tract infections.
Pain relievers: To manage pain.
Diuretics: To reduce fluid retention.
Medications to control sodium levels.
Is Communicable
No, polycystic kidney disease is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Precautions to help manage PKD include:
Controlling blood pressure: Following a low-sodium diet and taking prescribed medications.
Maintaining a healthy weight:
Staying hydrated: Drinking plenty of water.
Avoiding smoking:
Limiting alcohol consumption:
Regular exercise:
Avoiding certain medications: Such as NSAIDs (nonsteroidal anti-inflammatory drugs) which can damage kidneys.
Regular medical checkups: To monitor kidney function and manage complications.
How long does an outbreak last?
PKD is not an "outbreak" type of disease. It is a chronic, progressive condition. Symptoms may fluctuate in intensity over time, but the disease itself is always present.
How is it diagnosed?
Diagnosis typically involves:
Medical history and physical exam:
Imaging tests: Ultrasound, CT scan, or MRI to visualize cysts in the kidneys.
Genetic testing: To confirm the diagnosis, especially if there is no family history of PKD or when diagnosing ARPKD.
Kidney function tests: Blood and urine tests to assess kidney function.
Timeline of Symptoms
The timeline of symptoms varies greatly depending on the type of PKD.
ARPKD: Symptoms are usually present at birth or in early infancy.
ADPKD: Symptoms typically appear between ages 30 and 40, but can appear earlier or later. Some people may have no symptoms until later in life. The progression of symptoms also varies significantly from person to person.
Important Considerations
Genetic counseling: Is recommended for individuals with PKD or a family history of the disease.
Family screening: Family members may be screened for PKD, especially if they are considering having children.
Kidney transplantation: May be necessary for individuals with end-stage kidney disease.
Living donation: Is an option for individuals needing transplant.
Dietary modifications: Low sodium, low phosphorus, and adequate hydration.
Regular monitoring: Regular follow-up with a nephrologist is crucial for managing the disease.