ichthyosismus是什么意思，ichthyosismus翻译

ichthyosismus是什么意思，ichthyosismus翻译

Ichthyosismus, also known as fish odor syndrome, is a rare genetic disorder that affects the production of an enzyme called usnate hydrolase. This enzyme is responsible for breaking down a substance called usnate, which is excreted through the skin. When this enzyme is deficient or not functioning properly, usnate builds up in the body, leading to the characteristic fishy odor in the urine, sweat, and breath of affected individuals.

The symptoms of ichthyosismus can vary in severity, but common signs include a strong fishy odor, dry and scaly skin, thickening of the skin on the palms of the hands and soles of the feet, and a decreased ability to sweat. In severe cases, individuals may also experience eye problems, hearing loss, and difficulty swallowing.

Ichthyosismus is caused by mutations in the SLC27A4 gene, which provides instructions for making the usnate hydrolase enzyme. This gene is located on chromosome 5. When the SLC27A4 gene is mutated, the enzyme is either not produced or produced in insufficient amounts, leading to the buildup of usnate and the symptoms of ichthyosismus.

The diagnosis of ichthyosismus is typically based on the presence of the characteristic fishy odor and physical examination of the skin. A skin biopsy may be performed to confirm the diagnosis by showing reduced or absent amounts of usnate in the skin. Genetic testing can also be used to identify mutations in the SLC27A4 gene.

Treatment for ichthyosismus focuses on managing symptoms and preventing complications. This may include regular bathing and moisturizing to keep the skin hydrated, use of medications to help control the skin scaling, and the use of air filters to help reduce the fishy odor. In severe cases, skin grafts or other surgical procedures may be necessary to treat thickened skin.

There is currently no cure for ichthyosismus, but advances in genetic research and gene therapy hold promise for the future. Gene therapy is a treatment that involves inserting a normal copy of the SLC27A4 gene into the cells of an affected individual. This therapy has shown some success in laboratory experiments and animal studies, and clinical trials are currently ongoing to test its safety and effectiveness in humans.

Ichthyosismus is a rare and unique disorder, but advances in medical research are providing hope for affected individuals and their families. With further research and development of new treatments, the future looks brighter for those with ichthyosismus.