Monitoring PK Deficiency | Know PK Deficiency
See data on the long-term impact of PK deficiency

Monitoring PK Deficiency

Know the tests for monitoring your complications

Regular evaluations can help make sure you’re getting the right care. Many assessments to monitor PK deficiency are done on a yearly basis, but some need to be done more often based on transfusion frequency, the need for chelation therapy, and discoveries from previous tests. Explore the key terms used on this page

Testing for complications


Monitored by ultrasound if there is new or worsening abdominal pain, or if bilirubin levels are consistently high.


Iron damage to the heart or liver
Monitored by a yearly T2* MRI scan. Patients who receive regular transfusions, or who need chelation therapy, may need to be assessed more frequently.


Osteopenia and osteoporosis
A DXA should be done in early adulthood. Results of the scan determine how often the test should be repeated.


Pulmonary hypertension
An echocardiogram should be done by age 30. Doctors determine if the test needs to be repeated based on what the picture shows.


Extramedullary hematopoiesis
A visual exam is performed regularly, with further testing if there is unexplained swelling or symptoms that indicate signs of nerve damage, such as numbness, tingling, burning, or shooting pain.


Annual blood tests for:

  • Degree of anemia (hemoglobin levels)
  • Reticulocyte count (newly developing red blood cells)
  • Iron overload (ferritin levels)
  • Vitamin D levels (to help assess bone health)
  • Hormone changes (to check for diabetes, thyroid problems, or sex hormone levels)
  • Viruses, such as HIV, and hepatitis A, B, and C (for people who receive regular transfusions)

Track your daily symptoms, save labs, and share updates with your healthcare team using the myPKD App.

Help build a monitoring schedule with your doctor. Download and print our monitoring guide.

Extramedullary hematopoiesis: Blood cell production occurring outside of the bone marrow, in organs such as the liver or spleen

DXA (or DEXA) scan: An X-ray performed to assess bone strength

MRI: A scan performed to look for iron overload in the liver and heart

Abdominal ultrasound: A test performed to look for gallstones or other complications involving the gallbladder

Echocardiogram (echo): A test assessing heart function and signs of pulmonary hypertension


The need and timing of tests varies for everyone. Talk with your doctor about each test to determine a monitoring plan.

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