Variations in the AE1 gene have been extensively investigated in dRTA patients, but most involved amino acid changes in cases that are found in infancy and with phenotypes more serious than urolithiasis alone, such as hemolytic anemia, severe metabolic acidosis, rickets, osteomalacia, massive nephrocalcinosis, renal failure, and growth retardation18. Here, SLC4A1 is linked to osteomalacia.