Autosomal Recessive Polycystic Kidney Disease: Gene Mutation
Mutations in the PKHD1 gene, located on chromosome 6, cause autosomal recessive
polycystic kidney disease. Although the function of this gene is not yet known, the protein made by the gene likely transmits chemical signals from the outside of the cell to the cell's nucleus. Researchers have not determined how mutations in the PKHD1 gene lead to the formation of numerous cysts, and result in the characteristic features of polycystic kidney disease.
When autosomal recessive polycystic kidney disease is inherited, it means an affected person must inherit two altered copies of the PKHD1 gene to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the altered gene.
The chance of this happening (when both parents carry the abnormal gene) is one in four. If only one parent carries the abnormal gene, the baby cannot get autosomal recessive polycystic kidney disease.
Symptoms of Autosomal Recessive Polycystic Kidney Disease
Besides the kidneys, autosomal recessive polycystic kidney disease in children can affect the liver, spleen, and
pancreas. This causes a number of the symptoms seen in autosomal recessive polycystic kidney disease, including:
Diagnosing Autosomal Recessive Polycystic Kidney Disease
Ultrasound imaging of the fetus or newborn baby reveals cysts in the kidneys, but does not distinguish between the cysts of autosomal recessive and
autosomal dominant polycystic kidney disease. An ultrasound of the kidneys of relatives can be helpful. For example, a parent or grandparent with autosomal dominant polycystic kidney disease cysts could help confirm a diagnosis of autosomal dominant polycystic kidney disease in a fetus or child. (It is extremely rare, although not impossible, for a person with autosomal recessive polycystic kidney disease to become a parent.) Because autosomal recessive polycystic kidney disease tends to scar the liver, ultrasound imaging of the liver also aids in diagnosis.
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