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Symptoms of autosomal recessive polycystic kidney disease (ARPKD) develop before birth and very often lead to perinatal death. Surviving children usually develop kidney failure and hepatic fibrosis within a few years after birth. Severity varies from being very severe where babies may die within hours or days of birth, to less severe involvement where there may be sufficient renal function for the child to survive a few to many years. Children with ARPKD may have retarded growth and can often be treated by recombinant growth hormone. Fifty-sixty percent of children survive into adulthood but may require intensive treatment after birth and sometimes a kidney and/or liver transplant.

At birth, children with ARPKD often exhibit:

• Floppy low-set ears
• Pointed nose
• Small chin
• Folds of skin surrounding the eyes (epicanthal folds)
• Severe bilaterally enlarged kidneys - large rigid masses can be felt on the back of both thighs.
• Pulmonary hypoplasia (underdeveloped lungs) causing significant breathing problems.

Patients with ARPKD also exhibit many of the same symptoms as patients with ADPKD, including:

• Hypertension (high blood pressure)
• Urinary tract infections
• Frequent urination

Other complications that may occur in ARPKD include:

• Low red blood cell count (anemia)
• Varicose veins
• Hemorrhoids
• Retarded growth due to compromised kidney function. Kidney function is crucial for normal growth and development