2015年3月26日星期四

How will Autosomal Dominant PKD Affect My Life

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.

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