Polycystic Kidney Disease (PKD): Symptoms & Signs

Symptoms of autosomal dominant polycystic kidney disease include pain in the back and sides, between the hips, and the ribs. Headache is also a common symptom. In the form of the condition that is inherited in an autosomal dominant manner, symptoms may not show up until later in life when the cysts develop in the kidney. In other cases, symptoms of this form of the condition can develop in childhood. Other symptoms include

• high blood pressure,
• kidney stones, and
• blood in the urine.

A second form of polycystic kidney disease is inherited in an autosomal recessive fashion. This form is known as "infantile" polycystic kidney disease, and kidney damage and symptoms can begin in utero or at birth. Children with this condition have

• frequent urination,
• high blood pressure,
• urinary tract infection, and
• growth problems and delays.

Other symptoms can include

• varicose veins and
• hemorrhoids.

Causes of polycystic kidney disease

Polycystic kidney disease results from an inherited genetic mutation. There are two forms of the condition. One is inherited in an autosomal dominant manner, in which only one copy of the gene defect is necessary to cause the condition. The other type is inherited in an autosomal recessive pattern, in which two copies of the genetic defect (one from each parent) are required to cause the condition.

REFERENCE:

Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.

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