Cerebrohepatorenal Syndrome

Below you will find more information about Cerebrohepatorenal Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Cerebrohepatorenal Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cerebrohepatorenal Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cerebrohepatorenal Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Cerebrohepatorenal syndrome is a rare genetic disease characterized by the lack of peroxisomes, the cell structures that remove toxic substances from the body. Peroxisomes are found in the kidneys, liver and brain.

Diagnosis

Cerebrohepatorenal syndrome can be diagnosed by means of genetic testing as well as by studying the presence of the symptoms in the patient.

Treatment

There is no standard treatment for the disease. Only the symptoms can be managed, but complications such as pneumonia can lead to eventual death.

Symptoms and Signs

The symptoms shown by a person with the disorder are enlarged liver, high amounts of iron in the blood, as well as vision problems. Some patients lack muscle tone and suffer from immobility. Jaundice and gastrointestinal bleeding are also common.

Causes

Cerebrohepatorenal syndrome is an autosomal recessive defect. The mutations lie on the chromosome 2p15 and chromosome 7q21-q22.

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