Autosomal dominant proximal renal tubular acidosis

Autosomal dominant proximal renal tubular acidosis (proximal RTA type 2) is a rare inherited kidney condition that affects how the kidneys handle bicarbonate, an important substance that helps keep your blood at the right acid-base balance. In a healthy kidney, the proximal tubule (an early part of the kidney's filtering system) reabsorbs most of the bicarbonate from the urine back into the blood. In this disease, the proximal tubule cannot properly reclaim bicarbonate, so too much of it is lost in the urine. This leads to a buildup of acid in the blood, a condition called metabolic acidosis. Because this form is autosomal dominant, only one copy of the changed gene (inherited from one parent) is enough to cause the disease. Key symptoms can include poor growth in children, fatigue, muscle weakness, bone softening, and sometimes kidney stones. Some patients may also have low potassium levels, which can cause additional muscle problems or heart rhythm concerns. Treatment focuses on correcting the acid-base imbalance by giving oral bicarbonate or citrate supplements. While there is no cure that fixes the underlying kidney defect, ongoing supplementation can help maintain normal blood pH, support growth in children, and prevent complications like bone disease. Regular monitoring by a kidney specialist is important to adjust treatment and watch for complications over time.

Bring these to your next appointment

• Q1.What is my current bicarbonate level and how far is it from normal?,How much bicarbonate supplement do I need to take each day, and how should I space the doses?,Do I also need potassium or vitamin D supplements?,What signs should I watch for that would mean I need emergency care?,Should my family members be tested for this condition?,How often do I need blood and urine tests to monitor my condition?,Are there any foods or medications I should avoid?

Common questions about Autosomal dominant proximal renal tubular acidosis