title: Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
abstract: BACKGROUND
  Mutations in the SLC4A1 gene have been found to cause either autosomal dominant (AD) or autosomal recessive (AR) distal renal tubular acidosis (dRTA). The SLC4A1 mutations causing AD dRTA were reported in white patients, whereas those associated with AR dRTA were often found in Southeast Asia. Here, the authors report additional novel SLC4A1 mutations in 3 patients with AR dRTA from 2 unrelated Thai families.
  
  
  METHODS
  The patients and members of their families were clinically studied. Red cell morphology and sulfate influx were examined. The SLC4A1 gene was screened, analyzed, and confirmed for mutations by molecular genetic techniques.
  
  
  RESULTS
  In the first family, the patient had dRTA, rickets, failure to thrive, nephrocalcinosis, and hypokalemic-hyperchloremic metabolic acidosis with a urine pH level of 7.00. He had novel compound heterozygous SLC4A1 G701D/S773P mutations, inherited from clinically normal heterozygous mother and father. In the second family, the patient and his sister had dRTA and Southeast Asian ovalocytosis (SAO) with different clinical severity. The patient had proximal muscle weakness, rickets, nephrocalcinosis, hypokalemia, normal anion gap metabolic acidosis, and urine pH level of 6.80. His sister was asymptomatic but the urine pH level could not be lowered to below 5.50 after a short acid load. Both siblings had compound heterozygous SLC4A1 SAO/R602H mutations.
  
  
  CONCLUSIONS
  Two novel compound heterozygous SLC4A1 G701D/S773P and SAO/R602H mutations were identified in Thai patients with AR dRTA.
authors.affiliation: Division of Nephrology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Suchai
authors.initials: S
authors.lastname: Sritippayawan
authors.forename: Achra
authors.initials: A
authors.lastname: Sumboonnanonda
authors.forename: Somkiat
authors.initials: S
authors.lastname: Vasuvattakul
authors.forename: Thitima
authors.initials: T
authors.lastname: Keskanokwong
authors.forename: Nunghathai
authors.initials: N
authors.lastname: Sawasdee
authors.forename: Atchara
authors.initials: A
authors.lastname: Paemanee
authors.forename: Peti
authors.initials: P
authors.lastname: Thuwajit
authors.forename: Prapon
authors.initials: P
authors.lastname: Wilairat
authors.forename: Sumalee
authors.initials: S
authors.lastname: Nimmannit
authors.forename: Prida
authors.initials: P
authors.lastname: Malasit
authors.forename: Pa-thai
authors.initials: PT
authors.lastname: Yenchitsomanus
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics* / Q000378:metabolism; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D004612:Elliptocytosis, Hereditary / Q000235:genetics*; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D013431:Sulfates / Q000493:pharmacokinetics; D013785:Thailand
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D013431:Sulfates