Hereditary nephropathy associated with hyperuricemia and gout.
Hereditary nephropathy associated with hyperuricemia and gout.
复制标题
遗传性肾病与高尿酸血症和痛风有关。
作者：
J. Puig;M. E. Miranda;F. Mateos;M. Picazo;M. Jiménez;Teresa S. Calvin;A. Gil
背景
与高尿酸血症或痛风相关的遗传性肾病的临床特征尚未完全描述，血清尿酸盐浓度升高的发病作用也存在争议。
方法
我们研究了两个遗传性肾病家族中14例患者的临床特征和7例患者的嘌呤代谢，这些患者均接受限制嘌呤饮食，并伴有无症状高尿酸血症或痛风。本文报告25例痛风肾功能不全患者和25例正常人血浆和尿嘌呤测定结果。两个家庭中的8名受试者平均随访44个月。所有患者均给予别嘌呤醇，高血压患者给予马来酸依那普利。
结果
所有患者都合并有高尿酸血症、痛风、肾功能不全、动脉高压和肾脏缩小。肾小球滤过率下降与肾血浆流量下降成正比。肾血流量减少者肾血管阻力明显增加。所有家族性肾病患者的血尿酸、次黄嘌呤和黄嘌呤排泄率均降低。家族性肾病患者的嘌呤排泄不足比痛风和肾功能不全患者更严重。3例家族性肾病患者的肾活检标本显示肾小管间质病变和肾小球缺血性改变，但无尿酸结晶。肾脏尿酸含量正常。别嘌呤醇治疗使血清尿酸水平正常化，但所有家族性肾病患者的血清肌酐浓度升高，肌酐清除率降低。1例仅在初始评价时患有痛风的患者在随访期间发生肾衰竭。
结论
与高尿酸血症和痛风相关的遗传性肾病患者血清尿酸盐浓度升高是由于尿酸排泄严重受损所致。然而，高尿酸血症似乎与发病无关，可能是原发性肾血流动力学紊乱的结果。
BACKGROUND
The clinical characteristics of hereditary nephropathy associated with hyperuricemia or gout have not been fully described, and the pathogenetic role of increased serum urate concentration is controversial.
METHODS
We examined the clinical characteristics of 14 patients and purine metabolism of seven patients, while they were on a purine-restricted diet, in two families with hereditary nephropathy associated with asymptomatic hyperuricemia or gout. Results of plasma and urinary purine measurements were compared with those obtained in 25 patients with gout and renal insufficiency and in 25 normal subjects. Eight subjects in both families were followed up for a mean of 44 months. Allopurinol was given to all patients and enalapril maleate to hypertensive subjects.
RESULTS
All patients had some combination of hyperuricemia, gout, renal insufficiency, arterial hypertension, and reduced kidney size. Decreased glomerular filtration rate was proportional to the decreased renal plasma flow. Renal vascular resistance was markedly increased in the patients with diminished renal plasma flow. All patients with familial nephropathy showed diminished urinary uric acid, hypoxanthine, and xanthine excretion rates. Purine under-excretion was more severe in affected patients with familial nephropathy than in patients with gout and renal insufficiency. Kidney biopsy specimens from three patients with familial nephropathy showed tubulointerstitial lesions and ischemic changes in glomeruli but no uric acid crystals. The kidney uric acid content was normal. Allopurinol treatment normalized serum urate levels, but serum creatinine concentrations increased and creatinine clearance decreased in all patients with familial nephropathy. One patient with gout only at initial evaluation developed renal failure during the follow-up period.
CONCLUSIONS
Increased serum urate concentrations in hereditary nephropathy associated with hyperuricemia and gout are due to severe impairment of uric acid excretion. Hyperuricemia does not appear, however, to be of pathogenetic relevance and may be a consequence of a primary disruption of renal hemodynamics.
溶血产物中磷酸核糖焦磷酸合成酶活性的诊断评估。
DOI：
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发表时间：
1984
期刊：
The Journal of laboratory and clinical medicine
影响因子：
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作者：
Losman,MJ;Hecker,S;Woo,S;Becker,MA
通讯作者：
Becker,MA