Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic illness that affects one in every 20,000 children. It builds fluid-filled kidney cysts in babies or fetuses, resulting in impaired kidney function even while the baby is still in the womb. ARPKD is frequently called “infantile PKD” due to its early diagnosis.


Autosomal recessive polycystic kidney disease affects several organs. Most diagnoses develop in early childhood and infancy. ARPKD symptoms include:

  • High blood pressure
  • Breathing difficulties
  • Enlarged kidneys
  • Swollen tummy
  • Problems with eating
  • Urinary tract infections
  • Chronic kidney disease


A child’s symptoms and the findings of an ultrasound scan are typically used to diagnose autosomal recessive polycystic kidney disease.

A physical examination to search for obvious indications of ARPKD, such as a swollen tummy (abdomen), and blood pressure monitoring are two tests that may be performed to assist in identifying ARPKD.

  • Blood pressure monitoring
  • Blood tests
  • Ultrasound
  • Physical examination
  • Genetic testing


Autosomal recessive polycystic kidney disease currently has no known treatment.
However, there are therapies available to control the condition’s accompanying symptoms as well as any consequences that may arise, such as:

Breathing Difficulties

Premature babies may be treated for pulmonary hypoplasia, which causes undeveloped lungs. Pregnancy steroids promote lung growth and efficiency. Sometimes, the doctor may remove one kidney to ease the pressure.

High Blood Pressure

Baby and child hypertension is treated with ACE inhibitors. Calcium channel blockers, diuretics, and beta-blockers can help children with ARPKD lower their blood pressure.

Liver Problems

Children with Autosomal recessive polycystic kidney disease often have liver problems, including scarring and swelling. Severe liver abnormalities may need a liver transplant, but kidney and liver transplants may be integrated into one operation.

Chronic Kidney Disease

If your child’s kidney function is considerably weakened, they may need a variety of therapies to address various issues. Iron supplements, erythropoietin injections, transfusions of blood, elevated phosphate levels, and growth issues are examples of these.

Kidney Failure

Kidney failure is typical in people with autosomal recessive polycystic kidney disease, needing kidney replacement or therapy. Dialysis and kidney transplantation are two successful therapies.

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