Polycystic kidney disease (PKD) may be of the autosomal dominant (ADPKD) or autosomal recessive (ARPKD) form. In both cases, the symptoms and signs occur as a result of renal enlargement and/or cystic replacement of functional renal tissue, leading to renal insufficiency or dysfunction.
Symptoms of ADPKD
The symptoms of ADPKD are delayed to some time after 30 years in most patients because until this time, the cysts are not large enough to interfere with normal kidney function. In addition, the kidney is not noticeably enlarged.
There may be pain in the abdomen, loins or lower back, the pain may be the first signs of ADPKD in many people. It does not last long in most cases but may persist for a few days in some individuals, though it may be severe. In most cases the cysts have become at least half an inch in size by then.
Reasons for the pain include:
- Enlargement of the cyst with stretching of the renal capsule
- Bleeding into a cyst
- The occurrence of renal stones
- Renal infection
Hematuria is often the presenting symptom of AKPKD and may cause alarm but is rarely serious and usually resolves within a week without specific treatment.
In most individuals with AKPKD, symptoms of hypertension occur only when the blood pressure is severely elevated. They may include:
- Headaches
- Diplopia or blurring of vision
- Nosebleeds
- Dyspnea
Symptoms due to the presence of renal stones may include
- Intense colicky pain usually in the back or loins, though sometimes it may be felt in the groin
- Rolling from side to side to find a comfortable position
- Nausea
- Frequency of urination
- Hematuria
Symptoms of a urinary infection in the lower urinary tract may include:
- Discoloration or unpleasant odor of urine
- Frequency of urination
- Urgency
- Dysuria
Symptoms of upper urinary infection may include:
- High fever with chills and rigor
- Severe nausea
- Vomiting
- Diarrhea
Extrarenal symptoms may include:
- Symptoms due to aneurysms, such as headache with projectile vomiting
- Symptoms due to heart valve defects or due to aortic insufficiency
- Symptoms of pancreatitis such as abdominal pain which radiates to the back, fever and vomiting
Symptoms of ARPKD
Autosomal recessive PKD presents quite differently. Since it often appears at birth or even in utero, it is also called infantile PKD. Depending on other factors, symptoms may sometimes be delayed to later in childhood or rarely, even to adulthood. Symptoms may include:
- Congenital deformities due to severely reduced amniotic fluid volume
- Breathing difficulties which are often so severe as to require mechanical ventilation support, because of pulmonary hypoplasia, coupled with limited diaphragmatic movements because of the pressure exerted by the enlarged kidneys and often the liver and the spleen as well
- A swollen abdomen with palpable flank masses due to the grossly enlarged kidneys
- Failure to grow
- Polyuria and polydipsia due to concentrating defects in the renal tubules
- Oliguria and renal failure
- Dehydration, especially if the child has fever, vomiting or diarrhea. Symptoms of dehydration include:
- Dry oral mucosa
- Sunken eyes
- Headaches
- Dizziness
- Irritability
- Symptoms of hepatic dysfunction such as jaundice, vomiting, nausea or poor growth
- Symptoms of cholangitis such as pain in the right upper quadrant of the abdomen and vomiting
- If portal hypertension has set in, dark or tarry stools as a result of internal hemorrhage may occur
- Feeding difficulties – the child is not hungry, or vomits following a feed, because of the space occupied by the large kidneys, as well as hepatorenal dysfunction. This may cause the child to be malnourished.
- Finally the signs of renal insufficiency or end-stage renal disease may set in:
- Swelling of various parts of the body, especially around the ankles and the eyes
- Decreased urine output
- Nausea
- Shortness of breath
- Pruritus
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