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Year : 2019  |  Volume : 2  |  Issue : 2  |  Page : 91-93

Distal renal tubular acidosis with hemolytic anemia and myotonia: Unusual phenotype of a known mutation

1 Department of Pediatrics, Armed Forces Medical College (AFMC), Pune, Maharashtra, India
2 Department of Pediatrics and Pediatric Nephrology, Command Hospital and AFMC, Pune, Maharashtra, India

Correspondence Address:
Suprita Kalra
Department of Pediatrics and Pediatric Nephrology, Command Hospital and Armed Forces Medical College, Pune, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/AJPN.AJPN_11_19

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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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