Epstein syndrome

Epstein syndrome is a rare genetic disorder characterized by thrombocytopenia, nephritis, and sensorineural hearing loss. It is an autosomal dominant disorder, meaning that only one copy of the altered gene is necessary for the disorder to occur.

Symptoms

The primary symptoms of Epstein syndrome include thrombocytopenia, or low platelet count, which can lead to increased bleeding and bruising; nephritis, or inflammation of the kidneys, which can lead to kidney damage and failure; and sensorineural hearing loss, which is 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, which provides instructions for making a protein called nonmuscle myosin heavy chain IIA. This protein plays a crucial role in the movement and division of cells, as well as in the formation of platelets, which are essential for normal blood clotting.

Diagnosis

Diagnosis of Epstein syndrome is typically based on the presence of the characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include complete blood count (CBC), kidney function tests, and hearing 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 platelet transfusions for thrombocytopenia, medications to manage nephritis, and hearing aids or cochlear implants for sensorineural hearing loss.

See also

• Genetic disorder
• Thrombocytopenia
• Nephritis
• Sensorineural hearing loss
• MYH9 gene

NIH genetic and rare disease info

• NIH info on Epstein syndrome

Epstein syndrome is a rare disease.

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