Siblings with renal tubular acidosis and nerve deafness. The first family in Japan.
Two siblings with renal tubular acidosis (RTA) and nerve deafness were examined. It was found by ammonium chloride and bicarbonate loading tests that the 6-year-old brother had a hybrid type of RTA and his 4-year-old sister, a distal type of RTA. Enzyme activity and amount of enzyme protein of carbonic anhydrase isoenzyme I and II in red blood cells, measured using an immunoadsorbent method, were normal in both cases. Although this indicated that the RTAs of these patients are not generated by the carbonic anhydrase deficiency, an investigation with renal tissue is necessary to arrive at a final conclusion.
D000141:Acidosis, Renal Tubular / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D000643:Ammonium Chloride; D002256:Carbonic Anhydrases / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000097:blood; D007564:Japan; D008297:Male; D010375:Pedigree
D007527:Isoenzymes; D000643:Ammonium Chloride; D002256:Carbonic Anhydrases