What are the symptoms of ARPKD?

In autosomal recessive polycystic kidney disease (ARPKD), symptoms can begin prenatally when small cysts form in the last section of the nephron called the collecting tubule. A cyst is a balloon-like widening of the tubule. Due to the numerous nephrons with small balloon-like dilatations, the kidneys can become quite enlarged. In addition, the normal function of the collecting tubule is disrupted. In the normal kidney, the collecting tubule fine-tunes the amount of water and acid in the tubular fluid so that the body retains an appropriate amount of water and eliminates excess amounts of acid. In ARPKD, the cystic collecting ducts cannot retrieve water efficiently, causing much more urine production than in children with normal kidneys. For reasons that are not completely understood, the majority of children with ARPKD have a progressive loss of kidney function. However, the age at which kidney failure develops varies greatly among patients, and, for reasons still unknown, the size of the kidneys does not necessarily correlate with the severity of the disease.


Prenatal symptoms

  • Diminished amniotic fluid levels during pregnancy
  • Enlarged kidneys on fetal ultrasound
  • Lung immaturity and functioning issues

Symptoms immediately after birth

  • Enlarged kidneys due to cysts
  • Breathing problems due to lack of space because of enlarged kidneys and decreased urine production. Ventilation is frequently required to sustain life.
  • Excessive urine production
  • Hypertension
  • Growth problems
  • Congenital hepatic fibrosis
  • Enlarged spleen with low red blood cell, white blood cell and platelet counts

Resource Articles

ARPKD, PKD in children

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Page last reviewed June 2021