Siblings with renal tubular acidosis and nerve deafness. The first family in Japan |
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| Authors: | Takanobu Anai Jiro Yamamoto Ichiro Matsuda Naoki Taniguchi Takahito Kondo Bunsaku Nagai |
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| Institution: | (1) Department of Pediatrics, Nobeoka Provincial Hospital, 860 Kumamoto, Japan;(2) Department of Pediatrics, Kumamoto University Medical School, 860 Kumamoto, Japan;(3) Department of Biochemistry, Cancer Institutes, Hokkaido University School of Medicine, Sapporo, Japan;(4) Department of Medicine, Hokkaido University School of Medicine, Sapporo, Japan;(5) Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan |
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| Abstract: | Summary 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. |
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