Abstract：
Although hyperuricemia is a widely studied condition with well-known effects on the kidneys, hypouricemia is usually considered a biochemical abnormality of no clinical significance despite the fact that it can be a sign or major finding of serious metabolic or genetic diseases affecting kidney health. In this study, we aimed to investigate and emphasize the clinical significance of hypouricemia.
Patients were evaluated retrospectively for persistent hypouricemia defined as serum uric acid concentrations of < 2 mg/dL on at least 3 different occasions. According to the blood and urine uric acid (UA) levels, the patients were classified as having hypouricemia due to UA underproduction vs. overexcretion. Demographic, clinical, and genetic characteristics were noted for analysis.
Fourteen patients (n = 14; M/F 8/6) with persistent hypouricemia were identified. Hypouricemia due to underproduction was the cause of 42.8% of these cases. All of the patients with a uric acid level of 0 mg/dL (n = 4) had hypouricemia due to underproduction. The median serum uric acid level was 0.85 (0-1.6) mg/dL. Isolated hypouricemia and hypouricemia with metabolic acidosis were equally distributed. Among the patients with hypouricemia due to underproduction, the final diagnoses were xanthine dehydrogenase deficiency (n = 5) and alkaptonuria (n = 1). In the overexcretion group, the final diagnoses were nephropathic cystinosis (n = 6), distal renal tubular acidosis (n = 1), and hereditary renal hypouricemia (n = 1). The diagnostic lag was longer for patients with isolated hypouricemia compared to other patients (p = 0.001).
Hypouricemia may reflect underlying genetic or metabolic diseases, early diagnosis of which could help preserve kidney function. A higher resolution version of the Graphical abstract is available as Supplementary information.
Patients were evaluated retrospectively for persistent hypouricemia defined as serum uric acid concentrations of < 2 mg/dL on at least 3 different occasions. According to the blood and urine uric acid (UA) levels, the patients were classified as having hypouricemia due to UA underproduction vs. overexcretion. Demographic, clinical, and genetic characteristics were noted for analysis.
Fourteen patients (n = 14; M/F 8/6) with persistent hypouricemia were identified. Hypouricemia due to underproduction was the cause of 42.8% of these cases. All of the patients with a uric acid level of 0 mg/dL (n = 4) had hypouricemia due to underproduction. The median serum uric acid level was 0.85 (0-1.6) mg/dL. Isolated hypouricemia and hypouricemia with metabolic acidosis were equally distributed. Among the patients with hypouricemia due to underproduction, the final diagnoses were xanthine dehydrogenase deficiency (n = 5) and alkaptonuria (n = 1). In the overexcretion group, the final diagnoses were nephropathic cystinosis (n = 6), distal renal tubular acidosis (n = 1), and hereditary renal hypouricemia (n = 1). The diagnostic lag was longer for patients with isolated hypouricemia compared to other patients (p = 0.001).
Hypouricemia may reflect underlying genetic or metabolic diseases, early diagnosis of which could help preserve kidney function. A higher resolution version of the Graphical abstract is available as Supplementary information.
摘要：
背景：尽管高尿酸血症是一种广泛研究的疾病，对肾脏有众所周知的影响，尽管低尿酸血症可能是影响肾脏健康的严重代谢或遗传性疾病的征兆或主要发现，但通常认为它是没有临床意义的生化异常。在这项研究中,我们旨在探讨和强调低尿酸血症的临床意义。
方法：在至少3种不同的情况下，对患者的持续性血尿酸（定义为血尿酸浓度<2mg/dL）进行回顾性评估。根据血液和尿液尿酸（UA）水平，患者被分类为由于UA生产不足而患有低尿酸血症。过度排泄。人口统计,临床,并注意到遗传特征进行分析。
结果：发现了14例（n=14；M/F8/6）持续性高尿酸血症患者。由于生产不足导致的低尿酸血症是这些病例的42.8％的原因。所有尿酸水平为0mg/dL的患者（n=4）均因生产不足而出现低尿酸血症。中位血尿酸水平为0.85(0～1.6)mg/dL。孤立性低尿酸血症和低尿酸血症伴代谢性酸中毒分布均匀。在由于生产不足而导致的低尿酸血症的患者中，最终诊断为黄嘌呤脱氢酶缺乏症（n=5）和碱蛋白尿（n=1）。在过度排泄组中，最终诊断为肾病性膀胱炎（n=6），远端肾小管酸中毒（n=1），遗传性肾性低尿酸血症（n=1）。与其他患者相比，孤立性低尿酸血症患者的诊断滞后时间更长（p=0.001）。
结论：低尿酸血症可能反映了潜在的遗传或代谢疾病，早期诊断有助于保护肾功能。更高分辨率版本的图形摘要可作为补充信息。
方法：在至少3种不同的情况下，对患者的持续性血尿酸（定义为血尿酸浓度<2mg/dL）进行回顾性评估。根据血液和尿液尿酸（UA）水平，患者被分类为由于UA生产不足而患有低尿酸血症。过度排泄。人口统计,临床,并注意到遗传特征进行分析。
结果：发现了14例（n=14；M/F8/6）持续性高尿酸血症患者。由于生产不足导致的低尿酸血症是这些病例的42.8％的原因。所有尿酸水平为0mg/dL的患者（n=4）均因生产不足而出现低尿酸血症。中位血尿酸水平为0.85(0～1.6)mg/dL。孤立性低尿酸血症和低尿酸血症伴代谢性酸中毒分布均匀。在由于生产不足而导致的低尿酸血症的患者中，最终诊断为黄嘌呤脱氢酶缺乏症（n=5）和碱蛋白尿（n=1）。在过度排泄组中，最终诊断为肾病性膀胱炎（n=6），远端肾小管酸中毒（n=1），遗传性肾性低尿酸血症（n=1）。与其他患者相比，孤立性低尿酸血症患者的诊断滞后时间更长（p=0.001）。
结论：低尿酸血症可能反映了潜在的遗传或代谢疾病，早期诊断有助于保护肾功能。更高分辨率版本的图形摘要可作为补充信息。
