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Pyruvate Kinase Deficiency (PKD)
Wednesday, 11 February 2004
Wednesday, 11 February 2004

What

Pyruvate Kinase Deficiency (PKD) is a hereditary blood disorder that leads to excessive destruction of red blood cells. This excessive destruction leads to low red blood cell counts, called anemia, and can cause severe fatigue, shortness of breath, jaundice and gallstones.

Who

PKD is a genetic disorder that is autosomal recessive, meaning a copy of the gene needs to be inherited from each parent in order to have the disease. Parents generally do not have the disease because they have one normal copy of the gene as well. Estimates of what the frequency should be based on genetic surveys are 50 times higher than the number of individuals actually diagnosed with PKD, suggesting that this disorder is frequently underdiagnosed. PKD has been found in all ethnic groups with a somewhat higher incidence, and increased severity, in Amish populations.

Signs and Symptoms

  • Paleness to the skin and lips.
  • Jaundice- a yellow discoloring of the skin, mucous membranes, and eyes, which is caused by too much bilirubin (one of the products created by the breakdown of red blood cells).
  • Fatigue.
  • Shortness of breath, or poor feeding in an infant.
  • Recurrent gallstones. These symptoms may be severe (life-threatening) or mild, and can appear shortly after birth or later in childhood.

Possible Causes

PKD is caused by the lack of a protein called pyruvate kinase that helps keep the metabolism of the red blood cells normal. The protein can either be missing, or non-functional. When it is not present or functioning, the red blood cells do not live as long, leading to excessive red blood cell destruction.

Diagnosis

Several blood tests can be done to help determine the diagnosis. The results of these tests that can indicate pyruvate kinase deficiency are • decreased numbers of red blood cells (anemia) • abnormally increased levels of bilirubin in the blood (hyperbilirubinemia); • tests for the function of the missing enzyme can be done on the blood to help confirm the diagnosis. An enlarged spleen is often found on physical examination. Usually, the child looks well physically, thus the diagnosis is mostly made by findings on blood tests.

Treatment

In cases of severe anemia, blood transfusions may be needed. If excessively frequent transfusions are needed, then removal of the spleen (splenectomy) may help to reduce the destruction of red blood cells. In newborns with dangerous levels of jaundice, therapy with special lights (like a tanning bed) or an exchange transfusion (procedure involving incremental removal of the infant’s blood followed by replacement with donor blood) can help prevent damage to the brain that can occur in infants (kernicterus). Children and adults are not at risk for this type of brain damage.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.