Abstract
Familial distal renal tubular acidosis (dRTA) can be caused by mutations in the Cl2/HCO32 exchanger of the renal Type A intercalated cell, kidney AE1/SLC4A1. dRTA-associated AE1 mutations have been reported in families from North America, Europe, Thailand, Malaysia, Papua-New Guinea, Taiwan, and the Philippines, but not India. The dRTA mutation AE1 A858D has been detected only in the context of compound heterozygosity. We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene. The mutation creates a novel restriction site that is validated for diagnostic screening.
Publication types
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Case Reports
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Letter
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Acidosis, Renal Tubular / complications
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Acidosis, Renal Tubular / genetics*
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Amino Acid Substitution
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Anemia, Hemolytic, Congenital / complications
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Anemia, Hemolytic, Congenital / genetics*
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Anemia, Macrocytic / complications
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Anemia, Macrocytic / drug therapy
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Anion Exchange Protein 1, Erythrocyte / genetics*
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Anion Exchange Protein 1, Erythrocyte / physiology
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Child
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Codon / genetics
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Consanguinity
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Ethnicity / genetics
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Homozygote
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Humans
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India / epidemiology
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Infant
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Introns / genetics
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Mutation, Missense*
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Pedigree
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Point Mutation*
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Polymorphism, Restriction Fragment Length
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Tuberculosis, Multidrug-Resistant / complications
Substances
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Anion Exchange Protein 1, Erythrocyte
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Codon
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SLC4A1 protein, human