Acalculous cystinuria
Acalculous cystinuria
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DOI：
10.1089/end.1997.11.233
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发表时间：
1997-08-01
影响因子：
2.7
通讯作者：
Low, RK
中科院分区：
文献类型：
--
作者：
Stoller, ML;McDonald, MW;Low, RK
我们根据一名结石形成指标患者，比较了结石形成家庭成员和未受影响亲属的定量尿胱氨酸值，确定了 39 名成员的家庭谱系，收集了 72 小时内饮食相似的受试者的定量尿液分析和血清生化特征。获得了详细的病史，三名家庭成员是形成结石的胱氨酸尿患者，平均尿胱氨酸排泄量为每天 496 毫克/克肌酐。六名没有结石病史的人（平均年龄 50 岁）的平均尿胱氨酸每天排泄量为 364 毫克/克肌酐。 34 名家庭成员尿胱氨酸浓度升高（平均每天肌酐 151 毫克/克），只有两名家庭成员尿胱氨酸排泄量正常。 15 名尿胱氨酸值升高（每天肌酐>150 毫克/克）的受试者尽管平均年龄 44 岁，但没有尿路结石病史。 结石形成组和非结石组的尿电解质和尿量相似。尽管该家族的平均年龄为 44 岁，但 39% 的人尿胱氨酸定量浓度升高，并且没有尿路结石病史。非结石性胱氨酸尿症是尿胱氨酸浓度升高，但没有泌尿系结石疾病的证据。尽管尿胱氨酸排泄异常，但非结石性胱氨酸尿症不一定会导致临床泌尿系结石病。
We compared quantitative urinary cystine values in stone-forming family members and unaffected relatives based on an index stone-forming patient, A family pedigree of 39 members was identified, Quantitative urinalyses and serum biochemical profiles were collected with the subjects on similar diets over 72 hours. Detailed medical histories were obtained, Three family members are stone-forming cystinuric patients with a mean urinary cystine excretion of 496 mg/g of creatinine per day. Six persons without a history of stones (mean age 50) had a mean urinary cystine excretion of 364 mg/g of creatinine per day. Thirty-four family members had elevated urinary cystine concentrations (mean 151 mg/g of creatinine per day), and only two family members had normal urinary cystine excretion, Fifteen subjects with elevated urinary cystine values (>150 mg/g of creatinine per day) had no history of urinary stones despite a mean age of 44 years, Urinary electrolytes and volumes were similar in the stone-forming and non-stone-forming groups. Thirty-nine per cent of the persons from this family pedigree had elevated quantitative urinary cystine concentrations and no history of urinary stones despite a mean age of 44 years. Acalculous cystinuria is an elevated urinary cystine concentration without evidence of urinary stone disease, Despite abnormal urinary cystine excretion, acalculous cystinuria does not necessarily culminate in clinical urinary stone disease.