Mutations in the chloride-bicarbonate exchanger gene AEI in autosomal dominant but not autosomal recessive distal renal tubular acidosis.
ASN 30th Annual Meeting, San Antonio
J Am Soc Nephrol (Sep) 8:391A 1997
Synopsis: Patients from two kindreds with autosomal dominant dRTA were found to have an Arg 589 -> Ser mutation. In ten families with autosomal recessive dRTA, however, no mutations in AE1 or linkage to the AE1 locus (long arm chromosome 17) were found.
Comment: See comments above on Abstract 1745. Autosomal recessive dRTA (which in some families is associated with nerve deafness) is not due to defects in AE1. The genetic basis of this syndrome remains unknown, and it may be a heterogenous group of disorders. (Stephen L. Gluck MD, Washington University School of Medicine, St. Louis, MO)
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ASN 30th Annual Meeting, San Antonio
Acidosis/alkalosis : Metabolic acidosis