Fechtner syndrome

Autosomal dominant - en

Fechtner syndrome is a rare genetic disorder characterized by a combination of nephritis, hearing loss, cataracts, and thrombocytopenia. It is considered a variant of Alport syndrome and is often grouped with other related conditions such as Epstein syndrome.

Symptoms

The primary symptoms of Fechtner syndrome include:

• Nephritis: Inflammation of the kidneys, which can lead to chronic kidney disease.
• Hearing loss: Progressive loss of hearing, often starting in childhood.
• Cataracts: Clouding of the lens of the eye, leading to vision impairment.
• Thrombocytopenia: Low platelet count, which can cause easy bruising and bleeding.

Causes

Fechtner syndrome is caused by mutations in the MYH9 gene, which encodes for the non-muscle myosin heavy chain IIA. This gene is crucial for the proper function of platelets, kidney cells, and inner ear cells.

Diagnosis

Diagnosis of Fechtner syndrome typically involves:

• Genetic testing to identify mutations in the MYH9 gene.
• Blood test to check for thrombocytopenia.
• Urinalysis to detect signs of nephritis.
• Audiometry to assess hearing loss.
• Ophthalmologic examination to identify cataracts.

Treatment

There is no cure for Fechtner syndrome, and treatment is primarily symptomatic. Management strategies include:

• Symptomatic treatment for nephritis, such as ACE inhibitors or angiotensin II receptor blockers.
• Hearing aids or cochlear implants for hearing loss.
• Cataract surgery to improve vision.
• Platelet transfusions or other treatments for thrombocytopenia.
• In severe cases, a kidney transplant may be necessary.

Prognosis

The prognosis for individuals with Fechtner syndrome varies depending on the severity of the symptoms and the effectiveness of the treatments. Early diagnosis and management can improve the quality of life and outcomes for affected individuals.

Related Pages

• Alport syndrome
• Epstein syndrome
• Nephritis
• Thrombocytopenia
• Genetic disorder