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尿路結石の診療においては,基礎疾患や代謝異常の有無を考慮する必要がある.その目的では尿検査以外にも血清電解質,血液ガス検査が有力なツールであり,これらに異常を認める場合や,再発性,多発性の結石では血液・尿電解質,内分泌代謝関連の検査を加えて鑑別診断を進める.これには小児期に発症する多くの遺伝性尿細管疾患,プリン代謝異常,シュウ酸代謝異常などが含まれる.本稿では,各検査項目(血液・内分泌代謝関連の検査)の異常からみた尿路結石症例へのアプローチを概説する.
Nephrolithiasis can be a manifestation of various metabolic diseases. The diagnostic evaluation includes laboratory tests such as urine analysis, blood chemistry and blood gas analysis. In the presence of biochemical abnormalities or recurrent/multiple stones, a complete evaluation including endocrinological and metabolic analyses should be performed. Differential diagnoses include many hereditary tubular disorders, inborn errors of purine metabolism, and hyperoxalurias, which often become evident in childhood. This article provides a diagnostic method for nephrolithiasis from the perspective of laboratory tests including blood chemistry and metabolic evaluation.
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