Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease.
Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease.
复制标题
家族性青少年痛风性肾病，伴有肾病前肾尿酸盐排泄不足。
作者：
F. Moro;C. Ogg;H. Simmonds;J. Cameron;C. Chantler;M. B. McBride;J. Duley;P. M. Davies
本文报告了对一名患有肾脏疾病的年轻女性和另外六名看似健康的家族性青少年痛风性肾病新家系（四男两女）的年轻成员的调查（McKusick 16200）。这个家族以前被认为患有“家族性”肾脏疾病，但由于先证者在肾功能已经受损时发生了孤立的痛风发作而引起了人们的注意。在其他6名受试者中有3名发现GFR降低。先证者和5名亲属（其中3名为儿童）均出现与尿酸清除率分数（Cur/Ccr x 100）显著降低相关的高尿酸血症。在两名GFR正常的受试者中发现这种异常表明，这种疾病的明显标志先于肾损伤的发生。结果证实了疾病的主导性质，并强调有必要调查青少年痛风和肾功能衰竭患者的所有亲属。早期识别是很重要的，因为根据肾功能下降调整剂量的别嘌呤醇治疗可能会改善肾脏病变的进展。
This paper reports investigations in a young woman with renal disease and six other seemingly healthy young members of a new kindred (four male:two female) with familial juvenile gouty nephropathy (McKusick 16200). The family had previously been known to have a "familial" renal disease, but came to attention through an isolated episode of gout in the propositus when renal function was already impaired. A reduced GFR was found in three of the other six subjects. Hyperuricemia associated with a grossly reduced fractional uric acid clearance (Cur/Ccr x 100) was present in the propositus and five kindred members, three of whom were children. The finding of this abnormality in two subjects with normal GFR suggests that this apparent hallmark of the disease precedes the onset of renal damage. The results confirm the dominant nature of the disorder, and highlight the need to investigate all kindred members of patients with juvenile gout and renal failure. Early recognition is important, since allopurinol therapy in doses adjusted to the reduced renal function may ameliorate the progression of the renal lesion.