Fechtner syndrome

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Fechtner syndrome

Fechtner syndrome (pronounced: fek-ner sin-drome) is a rare genetic disorder characterized by the presence of blood platelet abnormalities, nephritis, cataract, and sensorineural hearing loss. The syndrome is named after the American hematologist, Richard J. Fechtner.

Etymology

Fechtner syndrome is named after Richard J. Fechtner, an American hematologist who first described the condition in 1956. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".

Symptoms

The primary symptoms of Fechtner syndrome include:

  • Thrombocytopenia: A condition characterized by abnormally low levels of blood platelets.
  • Nephritis: Inflammation of the kidneys.
  • Cataract: Clouding of the lens in the eye that affects vision.
  • 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

Fechtner 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 blood platelets and cells in the kidneys, eyes, and ears.

Diagnosis

Diagnosis of Fechtner syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing to identify mutations in the MYH9 gene.

Treatment

Treatment for Fechtner syndrome is symptomatic and supportive. It may include platelet transfusion for thrombocytopenia, dialysis or kidney transplantation for nephritis, cataract surgery for cataracts, and hearing aids or cochlear implants for sensorineural hearing loss.

See also

External links

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