Berty R M, Adler S, Basu A, Glew R H
Department of Medicine, Montefiore Hospital, Pittsburgh, PA 15213.
J Lab Clin Med. 1990 Jun;115(6):696-703.
Fabry's disease, which is characterized by alpha-galactosidase A (AG) deficiency, causes early renal failure. Kidney transplants do not reliably supply the deficient enzyme. To assess both urinary excretion of AG by the transplant and the relationship between urine and serum hydrolase activity, acute and chronic acid-base studies were performed in normal control subjects and in the patient with Fabry's disease who had undergone renal transplantation. For the acute studies, alkalosis was induced by intravenous infusion of sodium bicarbonate and acidosis was induced by ingestion of ammonium chloride. The chronic study involved long-term ingestion of NH4Cl by only the patient with Fabry's disease. The results show that AG is secreted by the renal graft. Urinary hydrolase excretion was increased by acute alkalinization and decreased by acute acidification. Acute, but not chronic, acidification increased the patient's serum AG activity, indicating that long-term acidification is not useful for treating Fabry's disease after transplantation. The large changes in hydrolyase excretion induced by acute and chronic acid-base changes show the difficulty of using lysosomal enzymuria as a diagnostic marker for renal disorders without knowledge of acid-base conditions.
法布里病以α-半乳糖苷酶A（AG）缺乏为特征，可导致早期肾衰竭。肾移植并不能可靠地提供这种缺乏的酶。为了评估移植肾对AG的尿排泄情况以及尿和血清水解酶活性之间的关系，对正常对照受试者和接受肾移植的法布里病患者进行了急性和慢性酸碱研究。在急性研究中，通过静脉输注碳酸氢钠诱导碱中毒，通过摄入氯化铵诱导酸中毒。慢性研究仅涉及法布里病患者长期摄入氯化铵。结果表明，移植肾可分泌AG。急性碱化可增加尿水解酶排泄，急性酸化则使其减少。急性酸化（而非慢性酸化）可增加患者血清AG活性，这表明长期酸化对移植后法布里病的治疗并无帮助。急性和慢性酸碱变化引起的水解酶排泄的大幅变化表明，在不了解酸碱状况的情况下，将溶酶体酶尿用作肾脏疾病的诊断标志物存在困难。
