Protocol Number: 03-HG-0264
Patients 6 months of age and older with ARPKD may be eligible for this 5- to 10-year study, excluding those who require frequent hospitalizations due to complications of end-stage renal disease or liver disease. Participants will undergo some or all of the following tests and procedures every 12 months during a 4- to 5-day hospital admission at the NIH Clinical Center: - Medical history and physical examination; 24-hour urine collection and blood tests to evaluate kidney and liver function; blood tests for basic research, including genetic studies related to ARPKD - Ultrasound of the abdomen to see changes in the kidneys, liver, spleen, and portal vein (vein leading to the liver); ultrasound of the heart in patients with hypertension. Ultrasound uses a probe held on the skin to send sound waves to organs. A computer converts the sound waves into images. - Magnetic resonance imaging (MRI) of the liver, bile ducts and kidneys. MRI uses a magnetic field and radio waves to scan organs while the patient lies still in a tunnel-like machine. - Echocardiogram and 24 hour blood pressure monitoring in patients with hypertension. - Cognitive function testing in patients with portal hypertension. Brain function is assessed through paper and pencil exercises that involve answering questions or drawing pictures. - X-rays and other tests, such as placement of intravenous lines, as needed for medical management - Endoscopy, if needed, to help prevent bleeding of esophageal varices. For this procedure, the patient is given medication for relaxation and sleep. Then, a tube with a light on the tip is advanced through the mouth down the food pipe and stomach to examine the organs and stop any bleeding. Results of tests performed, including information on the genetic cause of the ARPKD, will be provided the patient (or parent) if requested. NHGRI has partnered with the ARPKD/CHF Alliance that can be reached at (717) 529-5555 or www.arpkd.org.
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Warren Grant Magnuson Clinical Center (CC) |
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