Carbonic Anhydrase II Deficiency. A Report of Two Cases.
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概要
- 論文の詳細を見る
Two men aged 36 and 38 years, both with osteosclerosis, renal tubular acidosis, symmetric cerebral calcification of basal ganglia and cerebellum, and hypoparathyrpidism were diagnosed as having carbonic anhydrase II (CA II) deficiency. Biochemical and immunological eveidence confirmed the deagnosis, showing that they had a virtual absence of CA II in their erythrocytes. CA II activity as tested by Maren's method was almost totally absent in the patient's erythrocyte hemolysates. CA II prptein levels in the hemolysates were undetectable by radial immunodefusion testing. Their parents, who were asymptomatic heterozygotes, exhibited about half th normal enzyme protein level of CA II.
- 西日本整形・災害外科学会の論文
著者
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中島 勝也
佐賀県立病院好生館整形外科
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荒牧 修一
久留米大学医学部小児科
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奥江 章
佐賀県立病院 整形外科
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佐井 伸男
福岡大学整形外科
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草場 謙
佐賀県立病院好生館
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大石 聡
佐賀県立病院好生館整形外科
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藤田 秀一
佐賀県立病院好生館整形外科
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浦田 正彦
佐賀県立病院好生館整形外科
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藤原 明
佐賀県立病院好生館整形外科
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江崎 幸雄
九州大学整形外科
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奥江 章
佐賀県立病院 好生館 整形外科
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中島 勝也
佐賀県立病院 好生館 整形外科
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