Autosomal recessive polycystic kidney disease (ARPKD) affects infants and children. ARPKD is treated at Mayo Clinic in Rochester, where pediatric specialists have extensive experience in managing the disease.
ARPKD is diagnosed by ultrasound examination. Sometimes, diagnosis is made during a prenatal ultrasound. The exam can reveal cysts in the kidneys as early as 13 weeks. By 20 weeks an ultrasound can detect oligohydramnios, a condition in which there is too little amniotic fluid in the womb. When oligohydramnios occurs during the first half of pregnancy, it commonly indicates a birth defect involving the kidneys.
An ultrasound also can confirm a suspected diagnosis of ARPKD in an infant or older child. Children born with ARPKD will often experience symptoms of the disease soon after their births. These symptoms include passing large amounts of urine (polyuria), having excessive thirst (polydipsia), high blood pressure, enlarged kidneys and kidney failure. Failure to thrive, a condition in which an infant fails to grow normally, is also a symptom of ARPKD.
Treatment of ARPKD focuses on symptom control. Infants born with the disease are prone to high blood pressure, urinary tract infections and failure to thrive (a condition in which an infant fails to grow normally). Medications are used to treat high blood pressure and urinary tract infections. Babies who fail to thrive are fed increased amounts of nutritious food. If ARPKD leads to kidney failure, dialysis or kidney transplantation becomes necessary.
ARPKD care is coordinated through a team of specialists from Nephrology, Pediatrics, and Pediatric Kidney Transplant.
For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 7 p.m. Central time Monday through Thursday, 7 a.m. to 5 p.m. Friday, or complete an online appointment request form.
Autosomal recessive polycystic kidney disease is a genetic disease affecting one in every 10,000 to 40,000 babies. Those who have the disease develop many ("poly") cysts ("cystic") in their kidneys, which impairs kidney function and eventually leads to kidney failure and liver abnormalities. Between 30 and 50 percent of infants born with ARPKD die at birth or shortly thereafter. Of those who survive the first year of life, one third will need dialysis or a kidney transplant by 10 years of age. The disease is not contagious and does not affect intelligence.
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