HISTORY. Children with RPK are apt to have a lengthy medical history, including multiple system complications and frequent hospitalizations. Because children with ADPKD usually experience cardiopulmonary complications, ask the parents about respiratory distress or increased blood pressure during checkups. The child can also have bleeding varices; ask the parents if the child has ever spit up blood.

When you take a history from adults with ADPKD who are approximately 40 years old, note that they may have one of two forms of presenting symptoms: pain or hypertension. Pain can occur in one or both kidneys and can vary from a vague sense of heaviness or a dull ache to severe, knifelike pain. Some patients describe flank pain from renal colic, bloody urine from the passage of renal calculi, signs of a urinary tract infection (burning or pain on urination, urinary frequency and urgency, fever), and gastrointestinal symptoms (nausea, vomiting, diarrhea, constipation) from compression by the enlarged kidneys. Patients with the second type of ADPKD often develop hypertension as the initial clinical sign. Changes in urinary output and concentration may accompany hypertension because of developing renal insufficiency.

PHYSICAL EXAMINATION. The infant with RPK has pronounced epicanthal folds (vertical skin folds that extend from the root of the nose to the median end of the eyebrow), a pointed nose and small chin, and low-set ears. When you palpate the child's kidneys, you are able to feel huge, tense, bilateral masses on both flanks. These children usually have multiple assessment findings

748 Polycystic Kidney Disease from many malfunctioning organ systems, such as bleeding esophageal varices, pulmonary congestion, hypertension, and oliguria or anuria.

Adult patients with ADPKD may have a healthy appearance but may have urine that is foul-smelling, cloudy, or bloody because of a urinary tract infection. If the blood vessels that surround the kidney cysts rupture into the renal pelvis, the patient may have moderate-to-severe hematuria. The patient probably has had hypertension for years before any renal damage occurs. As the disease progresses, the patient develops a widening abdomen, which is tender when palpated. In advanced stages, palpation reveals grossly enlarged kidneys.

PSYCHOSOCIAL. When a child is diagnosed with RPK, assess the siblings for the disease as well. With both types of polycystic disease, the patient and partner need genetic counseling. Children of parents diagnosed with ADPKD should have an ultrasound or genetic testing because approximately half also have ADPKD. There is a great strain on individuals and their families with both types of polycystic kidney disease because of the poor prognosis of children with RPK and the knowledge that ADPKD worsens throughout life.

Diagnostic Highlights


Normal Result

Abnormality with Condition


Genetic testing

No mutations on

PKD1, PKD2, PKD3 genes

Genetic alterations lead to

Blood Pressure Health

Blood Pressure Health

Your heart pumps blood throughout your body using a network of tubing called arteries and capillaries which return the blood back to your heart via your veins. Blood pressure is the force of the blood pushing against the walls of your arteries as your heart beats.Learn more...

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