Mathews M, Stauffer M, Cameron E C, Maloney N, Sherrard D J
Ann Intern Med. 1979 May;90(5):777-9. doi: 10.7326/0003-4819-90-5-777.
Primary hyperoxaluria is a rare congenital disorder characterized by large quantities of urinary oxalate with resultant nephrocalcinosis and nephrolithiasis and by deposits of calcium oxalate in other organs. Renal failure occurs early in life. Reports of unsuccessful renal transplantation attempts in this disorder underscore the need for antemortem diagnosis. Percutaneous bone biopsy is a relatively new procedure that is easily done at bedside, safe, and of potentially high yield in the demonstration of tissue oxalate. Three cases presented here show the characteristic histologic picture seen in this disease. In one case, the diagnosis was established by bone biopsy.
原发性高草酸尿症是一种罕见的先天性疾病,其特征是尿草酸大量增多,导致肾钙质沉着和肾结石,并伴有草酸钙在其他器官沉积。肾衰竭在生命早期就会发生。关于该疾病肾移植尝试失败的报道凸显了生前诊断的必要性。经皮骨活检是一种相对较新的操作,可在床边轻松完成,安全且在显示组织草酸方面可能具有高成功率。这里展示的三例病例呈现了该疾病特有的组织学表现。在一例病例中,通过骨活检确诊。