Renal tubular acidosis, distal, autosomal recessive

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Renal Tubular Acidosis, Distal, Autosomal Recessive
Specialty	Nephrology
Causes	Genetic mutation
Diagnostic method	Blood test, Urine test, Genetic testing
Treatment	Alkali therapy, dietary modifications

Renal Tubular Acidosis, Distal, Autosomal Recessive (dRTA) is a rare genetic disorder affecting the kidneys' ability to acidify urine. This condition is part of a group of disorders known as renal tubular acidosis (RTA), specifically classified under the distal type. It is characterized by the inability of the distal nephron, the latter part of the kidney tubule, to excrete acid effectively, leading to a buildup of acid in the blood, a condition known as metabolic acidosis.

Causes

dRTA is caused by mutations in genes responsible for the proper function of the kidney's distal tubules. These mutations are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms

Symptoms of dRTA can vary but often include fatigue, muscle weakness, and growth retardation in children. Due to the body's inability to maintain acid-base balance, affected individuals may also suffer from kidney stones, nephrocalcinosis (calcium accumulation in the kidneys), and increased risk of bone disease due to calcium loss.

Diagnosis

Diagnosis of dRTA involves a combination of blood tests, urine tests, and genetic testing. Blood tests typically show a normal anion gap metabolic acidosis, while urine tests reveal an inability to acidify urine adequately. Genetic testing can confirm the presence of mutations associated with the condition.

Treatment

Treatment for dRTA primarily involves alkali therapy, which helps neutralize the acid in the bloodstream, and dietary modifications to manage symptoms and prevent complications. Patients may also require supplements to address electrolyte imbalances and bone health.

Prognosis

With appropriate treatment, individuals with dRTA can lead relatively normal lives. However, ongoing monitoring and management are necessary to prevent complications.

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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, distal, autosomal recessive for any updates.

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