Distal Renal Tubular Acidosis and Other SLC4A1-related Disorders (SLC4A1)
Distal renal tubular acidosis is an autosomal recessive disorder caused by pathogenic variants in the gene SLC4A1. Individuals exhibit complete distal renal acidosis and blood cell abnormalities, and clinical manifestations include lethargy, anorexia, slow growth, and mild anemia with microcytosis, reticulocytosis, and hemoglobinopathy. Onset is in childhood, and life expectancy is normal if treated. Some heterozygous carriers may also exhibit symptoms associated with the milder, autosomal dominant form of the disease.
For information about carrier frequency and residual risk, please see the residual risk table.