Autosomal Dominant PKD is one of the most common inherited
kidney diseases. It is also known as adult PKD because patients usually detect
the disease at age of 30~50. ADPKD is a kind of systemic disease and patients
may experience clinical manifestations as below.
1. Renal manifestation of ADPKD
The size of the kidney is normal at early age, and there are occasionally
small sacs. With the increase of patient's age, both the size and amount of
renal cysts will increase. There may be multiple fluid-filled cysts on the
kidneys. The cystic fluid is clear and yellow, or chocolate in cases of trauma,
spontaneous hemorrhage or combined infections.
With the increase of cysts in number and size, the kidney also become
enlarged. In maximum case, patients can have >40cm kidneys with weight over
8kg. The bilateral kidneys may be asymmetric.
Patients may suffer from progressively decreased kidney function. Other renal
manifestations also include high blood pressure, UTIs, kidney stone, decreased
renal concentration ability, hematuria, pain in the back or abdomen, etc. Pain
is the most commonly seen early symptom. Acute or sudden onset pain often
indicates the rupture of cysts, kidney stones, or urinary clot or combined
infections.
Chronic pain may occur due to enlarged kidney or oppression to around
tissues.
2. Extra-renal manifestation of ADPKD
Liver cyst is a common symptom which may occur 10 years after the detection
of cysts. The onset age of women patients especially those gestational ones may
be ahead of time, and their cysts may be very large. Most patients have no
symptoms and a minority of them have pain, infectious cysts and bleeding.
The incidence of intracranial aneurysm increases with age, especially appear
in persons with medical history. Affected patients often have no symptoms, and
some may experience neurological signs and headache. The rupture of intracranial
aneurysm can cause subarachnoidal bleeding or intracranial hemorrhage.
Manifestations include severe headache, seizure, conscious disturbance, which is
the main cause of early death of ADPKD.
