Polycystic kidney disease (PKD or PCKD)

Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a cystic genetic disorder of the kidneys.

It occurs in humans and other animals. PKD is characterized by the presence of multiple cysts (hence, “polycystic”) in both kidneys. The cysts are numerous and are fluid-filled resulting in massive enlargement of the kidneys. The disease can also damage the liver, pancreas, and in some rare cases, the heart and brain. The two major forms of polycystic kidney disease are distinguished by their patterns of inheritance.

Polycystic Kidney Disease is the most common genetic, life threatening disease affecting more than 600,000 Americans and an estimated 12.5 million people worldwide. The PKD Foundation is the only organization worldwide dedicated to fighting polycystic kidney disease (PKD).

Diagnosis

The sensitivity of renal ultrasonography for the detection of ADPKD is 100% for subjects 30 years or older with a positive family history. Diagnostic criteria require two or more cysts in one kidney and at least one cyst in the contralateral kidney in young subjects, but four or more in subjects older than 60 years because of the increased frequency of benign simple cysts. Most often, the diagnosis is made from a positive family history and imaging studies showing large kidneys with multiple bilateral cysts and possibly liver cysts. Before the age of 30 years, CT scan or T2-weighted MRI is more sensitive for detecting presymptomatic disease because the sensitivity of ultrasound falls to 95% for ADPKD type 1 and <70% for ADPKD type 2.Genetic counseling is essential for those being screened. It is recommended that screening for asymptomatic intracranial aneurysms should be restricted to patients with a personal or family history of intracranial hemorrhage. Intervention should be limited to aneurysms larger than 10 mm. Someone with this disease has a 5% chance of getting brain aneurysms.


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Abdominal CT scan showing massive kidneys with innumerable fluid-filled cysts.

Aneurysm of the true lumen in a patient with polycystic kidney disease. Enhanced CT scan shows an abdominal aortic dissection (arrow).

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