Epstein syndrome
Epstein Syndrome
Epstein Syndrome (pronounced: ep-steen sin-drome) is a rare genetic disorder characterized by thrombocytopenia, nephritis, and sensorineural hearing loss.
Etymology
The syndrome is named after Dr. Maurice Epstein, who first described the condition in 1972.
Definition
Epstein Syndrome is a form of Alport Syndrome, a group of genetic conditions that cause kidney disease and hearing loss. It is distinguished by the additional symptom of thrombocytopenia, a condition characterized by low levels of platelets in the blood.
Symptoms
The primary symptoms of Epstein Syndrome include:
- Thrombocytopenia: This condition results in easy bruising and prolonged bleeding due to a low number of platelets in the blood.
- Nephritis: Inflammation of the kidneys that can lead to kidney failure.
- Sensorineural hearing loss: A type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).
Causes
Epstein Syndrome is caused by mutations in the MYH9 gene. This gene provides instructions for making a protein that is found in many types of cells, including cells in the kidneys, inner ear, and blood platelets.
Diagnosis
Diagnosis of Epstein Syndrome is based on clinical findings, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Genetic testing can confirm a diagnosis.
Treatment
Treatment of Epstein Syndrome is directed toward the specific symptoms that are apparent in each individual. This may include medications to manage kidney disease, hearing aids for hearing loss, and treatments for thrombocytopenia.
Related Terms
External links
- Medical encyclopedia article on Epstein syndrome
- Wikipedia's article - Epstein syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski