Abstract
Distal renal tubular acidosis (dRTA) is a tubulopathy with metabolic acidosis due to impaired renal acid excretion. Patients with dRTA present with hypokalemia, medullary nephrocalcinosis, nephrolithiasis, growth retardation, and rickets in childhood. Inherited dRTA due to solute carrier family 4 member 1 gene (SLC4A1) mutation on chromosome 17 is known to be associated with hemolytic anemia, whereas mutations in other genes might be associated with hearing loss (ATP6V1B1, ATPV0A4, or FOXI1) or dental enamel defects (WD repeat-containing protein 72). However, an association of dRTA with myotonia has not been reported. We report here an infant with dRTA with hemolytic anemia and persistent myotonia due to a homozygous missense mutation (p. Ala858Asp) in exon 19 of SLC4A1.
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