Sener syndrome

Sener Syndrome is a rare genetic disorder characterized by a combination of renal tubular acidosis, sensorineural hearing loss, and tooth enamel hypoplasia. It is an autosomal recessive condition, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the syndrome. The syndrome was first described by Sener in 1988, after whom it is named. The condition is part of a group of diseases known as renal tubular acidosis (RTA) with sensorineural deafness (snd).

Symptoms and Signs

The primary features of Sener Syndrome include:

• Renal Tubular Acidosis (RTA): A condition where the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic.
• 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).
• Tooth Enamel Hypoplasia: A defect of the teeth in which the enamel is hard but thin and deficient in amount, caused by defective enamel matrix formation.

Patients may also exhibit other symptoms and signs that are not part of the core syndrome but can be associated with the underlying genetic mutation.

Causes

Sener Syndrome is caused by mutations in a gene that has not been precisely identified but is believed to affect the development and function of the kidneys, ears, and teeth. The exact mechanism by which these mutations lead to the symptoms of the syndrome is not fully understood. Research is ongoing to identify the specific genetic mutations and pathways involved in this syndrome.

Diagnosis

Diagnosis of Sener Syndrome is based on the clinical presentation of the triad of symptoms (RTA, sensorineural hearing loss, and tooth enamel hypoplasia) and is confirmed through genetic testing. Additional tests may include:

• Blood tests to measure acid-base balance and electrolyte levels.
• Urine tests to assess the ability of the kidneys to acidify the urine.
• Hearing tests to determine the extent of sensorineural hearing loss.
• Dental examination to evaluate enamel hypoplasia.

Treatment

There is no cure for Sener Syndrome, and treatment is symptomatic and supportive. Management strategies may include:

• Alkali therapy to correct the acidosis associated with RTA.
• Hearing aids or cochlear implants for those with sensorineural hearing loss.
• Dental care to manage tooth enamel hypoplasia and prevent dental complications.

Prognosis

The prognosis for individuals with Sener Syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies. With appropriate treatment, individuals can manage symptoms and lead relatively normal lives.

See Also

• Renal Tubular Acidosis
• Sensorineural Hearing Loss
• Genetic Disorders