Distal primary acidosis, familial

Distal Primary Acidosis, Familial (DPAF), also known as Type 1 Renal Tubular Acidosis (RTA), is a rare genetic disorder affecting the kidneys' ability to acidify urine. This condition is characterized by a failure of the distal nephron, the part of the kidney responsible for acidifying the urine, to excrete acid effectively. This leads to a buildup of acid in the blood, a condition known as metabolic acidosis. DPAF is inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Symptoms and Diagnosis

Symptoms of DPAF may vary among individuals but commonly include fatigue, muscle weakness, and growth retardation in children. Some patients may also develop kidney stones due to the alkaline urine and the tendency for calcium to precipitate. Diagnosis of DPAF involves blood and urine tests that show a normal anion gap metabolic acidosis, alkaline urine, and inability to acidify urine even after an acid load.

Genetics

DPAF is caused by mutations in specific genes that encode for proteins involved in the acidification process in the distal nephron. The most commonly implicated gene is the ATP6V1B1 gene, although mutations in the ATP6V0A4 gene have also been associated with the condition. These genes are involved in the production and function of the H+-ATPase pump, crucial for acid secretion into the urine.

Treatment

Treatment of DPAF focuses on correcting the metabolic acidosis and preventing kidney stones and bone disease. This is typically achieved through oral administration of alkali substances, such as sodium bicarbonate or potassium citrate, to neutralize the acid in the blood. Patients are also advised to increase their water intake to reduce the risk of kidney stones.

Prognosis

With appropriate treatment, the prognosis for individuals with DPAF is generally good. However, patients require lifelong treatment and monitoring to manage the condition and prevent complications.

Distal primary acidosis, familial Resources
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