Disease

SLC4A4 associated proximal renal tubular acidosis1, 2

Gene

SLC4A4

Inheritance AR
Current Treatments oral alkali replacement therapy, potassium chloride
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test serum bicarbonate, chloride, potassium, urinary pH and anion gap. 3
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=SLC4A4&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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