Polycystic Kidney Disease (PKD)

• Autosomal Dominant  Polycystic Kidney Disease (ADPKD)

• Autosomal Recessive Polycystic Kidney Disease (ARPKD) 

• High blood pressure

• Loss of kidney function

• Chronic pain

• Cysts in the liver 

• Development of an aneurysm in the brain 

• Pregnancy complications   

• Heart valve abnormalities

• Colon problems 

• Hypertension
• Palpable, bilateral flank masses
• Nodular hepatomegaly

• Urinalysis
• Urine culture
• Uric acid determination
• Serum chemistry profile
• CBC count
• Intact PTH assay

• Ultrasonography; used for screening family members of the patient. The imagery reveals possible masses such as liver cysts, pancreatic cysts.
• CT scanning; used for checking kidney stones, suspected tumors
• MRI; used for monitoring kidney size after treatment, as an indication of disease progression.
• MRA; best for sighting intracranial aneurysms

• Taking medications as prescribed by the doctor.
• Reducing intake of high-salt diets; increasing the intake of whole grains.
• Eating plenty of fruits, vegetables 
• Maintaining a healthy weight as recommended by the doctor.
• Limiting the intake of alcohol.
• Quitting smoking.
• Exercising at least 30 minutes daily. Moderate exercises like strolling are recommended.

• Reducing abdominal pain 
• Controlling blood pressure
• Treating cyst infections
• Treating UTIs
• Controlling renal failure related abnormalities 
• Treating hematuria
• Preventing cardiac valve infection, if any
• Reducing kidney function decline, if rapid

• Surgical drainage: This is done when the cysts in the kidneys are not responding to antibiotics. It often goes in line with an ultrasonographically guided puncture. 
• Fiberoptic-guided or open surgery: This is used to drain the outer walls of cysts to wipe off its symptoms.
• Nephrectomy: This involves the removal of all parts of the kidney in patients with severe kidney issues and is usually the last option for pain control in patients whose cysts are inaccessible. 
• Partial hepatectomy: Where the liver has been affected, this involves the removal of a portion of the liver to enable it optimally perform its functions.
• Liver transplantation: When portal hypertension erupts due to polycystic liver or hepatomegaly the patient would require a liver transplant

• Peritoneal dialysis
• Hemodialysis
• Renal transplantation

Symptoms

Symptoms of PKD

Common symptoms of polycystic kidney disease include:

• Increase in size of the abdomen due to enlarged kidneys
• Blood in urine
• Back or side pain
• Headaches 
• High blood pressure
• Fullness in the abdomen
• Urinary tract or kidney infections
• Kidney stones
• Kidney failure

Causes

Causes of Polycystic Kidney Disease

Polycystic kidney disease is caused by inherited mutated PKD1 and PKD2 genes. These genes are responsible for encoding the proteins polycystin-1 and polycystin-2, respectively, whose jobs are to regulate cells in the kidneys and liver, contribute to the formation of tubular structures, and influence growth and fluid secretion function. However, when any of these genes are mutated, it results in the formation of fluid-filled sacs within the kidney, and subsequently affect other organs such as the liver.

FAQ

Who can get PKD?

Polycystic kidney disease is a genetic disease passed down through family traits. It can affect anyone of any gender, race, ethnicity, and nationality, as far as the gene is present in the genetic strand of the individual. 

What is the difference between ADPKD and ARPKD?

Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD) are types of PKD, but their difference is the way they are genetically transmitted. 

ADPKD is inherited by the patient from one or both parents who are a dominant carrier, whereas ARPKD is inherited from one or both parents who are a recessive carrier.

When do the symptoms of ADPKD begin?

ADPKD is often called the “adult PKD” because symptoms are not noticed until you become an adult. Only in rare cases do signs begin to show from childhood. Because of the cysts, the kidneys enlarge almost like that of a football and weigh about 30 pounds.

When do the symptoms of ARPKD begin?

Unlike ADPKD, symptoms of ARPKD start from birth and can even be detected in a fetus. This type is chronic and leads to a child managing its symptoms for life and an estimated 33% of the time, a child may need dialysis of a kidney transplant at the age of 10. The kidneys are enlarged from birth causing underdeveloped lines and chronic liver damage. The child gets to live with high blood pressure and has a poor growth system.

Are the kidney cysts in PKD cancerous?

No, they are not cancerous. The cyst that forms in the kidney as a result of PKD is benign, which leads to the decrease and loss of function of the kidneys.