Cerebrohepatorenal Syndrome
Cerebrohepatorenal Syndrome Causes
Cerebrohepatorenal syndrome is an autosomal recessive defect. The mutations lie on the chromosome 2p15 and chromosome 7q21-q22.
Cerebrohepatorenal Syndrome 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.
Cerebrohepatorenal Syndrome Diagnosis
Cerebrohepatorenal syndrome can be diagnosed by means of genetic testing as well as by studying the presence of the symptoms in the patient.
Cerebrohepatorenal Syndrome 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.
Cerebrohepatorenal Syndrome 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.