Renal tubular acidosis progressive nerve deafness

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Renal Tubular Acidosis with Progressive Nerve Deafness
Specialty	Nephrology, Otolaryngology
Symptoms	Kidney stones, Nephrocalcinosis, progressive hearing loss
Complications	Osteomalacia, Rickets
Usual onset	Childhood or early adolescence
Duration	Long-term
Causes	Genetic (autosomal recessive)
Risk factors	Family history
Diagnostic method	Blood tests, urine tests, hearing tests
Treatment	Alkali therapy, hearing aids, cochlear implants
Medication	Sodium bicarbonate, Potassium citrate
Prognosis	Variable
Frequency	Rare

Renal Tubular Acidosis with Progressive Nerve Deafness is a rare genetic disorder characterized by the combination of renal tubular acidosis (RTA), a condition where the kidneys fail to excrete acids into the urine thereby causing a person's blood to remain too acidic, and progressive sensorineural hearing loss. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected.

Symptoms and Signs

Individuals with Renal Tubular Acidosis with Progressive Nerve Deafness typically present symptoms of RTA such as kidney stones, Nephrocalcinosis (calcium accumulation in the kidneys), and possible renal failure. The progressive nerve deafness associated with this condition usually begins in childhood or early adolescence and worsens over time. Other symptoms may include Polyuria (excessive urination), Polydipsia (excessive thirst), and a failure to thrive in infancy.

Causes

The condition is caused by mutations in specific genes that are inherited in an autosomal recessive pattern. These genetic mutations affect the kidney's ability to properly acidify the urine, leading to an imbalance of acid in the body. The exact genetic mutations that cause the associated nerve deafness are still under investigation.

Diagnosis

Diagnosis of Renal Tubular Acidosis with Progressive Nerve Deafness involves a combination of blood and urine tests to evaluate the acid-base balance and electrolyte levels, as well as hearing tests to assess the degree of hearing loss. Genetic testing may also be conducted to identify the specific mutations present.

Treatment

Treatment focuses on managing the symptoms and preventing complications. Alkali therapy with Sodium bicarbonate or Potassium citrate is used to neutralize the acidosis. Hearing loss is managed with hearing aids or cochlear implants, depending on the severity. Regular monitoring of kidney function and hearing is essential for individuals with this condition.

Prognosis

The prognosis for individuals with Renal Tubular Acidosis with Progressive Nerve Deafness varies. Early diagnosis and treatment can improve quality of life and slow the progression of hearing loss. However, the condition is chronic and requires lifelong management.

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Renal tubular acidosis progressive nerve deafness for any updates.

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