ADPKD and ARPKD: Definitions, Causes & Treatments

Polycystic kidney disease (PKD) is a genetic condition that causes cysts to form in the kidneys. These cysts expand your kidneys and may cause harm.


What causes Polycystic kidney disease?

A shift (mutation) in your DNA causes PKD. Genes are components of your cells that contain DNA and instruct your cells on what to perform. DNA is located inside every cell in our bodies and contains information that is handed down from generation to generation. DNA codes for several characteristics such as eye color, body shape, and gender.

PKD is usually always passed on from a parent or both parents to their kid. There is no method to prevent either form of PKD.

PKD is classified into two types: 

  • Autosomal dominant polycystic kidney disease (ADPKD).
  • Autosomal recessive polycystic kidney disease (ARPKD) 


Autosomal dominant PKD (ADPKD)


ADPKD causes cysts to form in the kidneys. By the age of 70, almost half of patients with ADPKD will have kidney failure. ADPKD can eventually affect other organs, particularly the liver.

Symptoms usually appear between the ages of 30 and 50, which is why it is also known as "adult PKD."

Some of the symptoms of ADPKD:

  • Blood in your urine (pee)
  • High blood pressure
  • UTIs (urinary tract infections) 
  • Kidney stones


Autosomal recessive PKD (ARPKD)

Cysts form in your kidneys as a result of ARPKD. It can be dangerous and fatal to newborn babies. More than half of all children who survive will develop kidney failure by the age of 15 to 20. ARPKD may potentially affect other organs, notably the liver.

The symptoms appear in newborns, often before they are born, which is why it is also known as "infantile PKD."

Some of the symptoms of ARPKD

Before the baby is born:

  • The mother's ultrasound scans while pregnant reveal that the unborn baby's kidneys are bigger than they should be.
  • Inadequate amniotic fluid around the baby- Amniotic fluid is the liquid that surrounds and protects the fetus in the mother's womb. The baby's kidneys should produce amniotic fluid during the middle to late stages of pregnancy. Some kids with ARPKD have damaged kidneys even before birth, and their kidneys are unable to produce adequate amniotic fluid.

Birth Symptoms

  • Swollen stomach
  • Blood pressure is high.
  • Breathing difficulties
  • After-feeding vomiting of breast milk or formula
  • Issues with the baby's face, limbs, and legs growing

Childhood Symptoms

  • Blood pressure is high.
  • UTIs (urinary tract infections) (urinary tract infections)
  • They are experiencing back or side pain.
  • Veins that are varicose (large veins that you can see through their skin, often in their legs)
  • Height and weight are below average.


What are the effects of ADPKD and ARPKD?

ADPKD or ARPKD might harm your kidneys over time. This might result in long-term pain in your side or back. It may also damage the functioning of your kidneys.

When your kidneys stop working properly, a poisonous accumulation of waste in your blood can occur. It can also induce renal failure, which necessitates lifelong dialysis or a kidney transplant.


What are the complications of ADPKD and ARPKD?

  •  Stroke and heart disease- Increased by high blood pressure, which might further harm your kidneys.
  • Preeclampsia- This is a type of high blood pressure that might be fatal and could appear during pregnancy.
  • Infections of the urinary system- Which appear when germs invade your urinary system and multiply to dangerous amounts
  • Kidney stones- Can appear as hard deposits when minerals in your urine crystallize.
  • Diverticulosis- Which develops when holes and pouches appear in the wall of your big intestine
  • Heart valve prolapse- This happens when a heart valve fails to shut correctly, allowing blood to flow backward.
  • A brain aneurysm- It happens when a blood vessel in your brain swells, putting you at danger of having a brain hemorrhage.


Are there treatment choices for ADPKD and ARPKD different?

Tolvaptan, a novel type of drug, may be prescribed by your doctor to assist halt the progression of ADPKD (Jynarque). This medicine has been found to halt disease development and lower the risk of renal failure. It is not authorized for the treatment of ARPKD.

Your doctor may give any of the following medications to assist treat the symptoms and problems of ADPKD or ARPKD:

  • If you suffer Kidney failure, you may need dialysis or a kidney transplant.
  • If you have high blood pressure, you should take blood pressure medicine.
  • If you have a urinary tract infection, you should take antibiotics.
  • If you suffer cyst-related pain, you should take pain medication.
  • If cysts are causing severe pressure and pain, surgery to remove them may be required.