International registry for primary Hyperoxaluria
International registry for primary Hyperoxaluria
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DOI：
10.1159/000086360
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发表时间：
2005-01-01
影响因子：
4.2
通讯作者：
Milliner, DS
中科院分区：
文献类型：
--
作者：
Lieske, JC;Monico, CG;Milliner, DS
背景/目的：原发性高钙尿症（PH）是一种遗传性疾病，可引起尿钙结石和肾功能衰竭。由于其罕见性，大多数中心对这种疾病的经验有限。研究方法：一个安全的，基于网络的，机构审查委员会/伦理委员会和美国健康保险流通和责任法案（HIPAA）兼容的登记处的开发，以促进国际贡献的数据库。到目前为止，已入组95例PH患者。结果：95例中PH型84例，其中PH 1型79%，PH 2型9%。症状发作时的平均年龄+/- SD为9.5 +/- 10.2（中位数5.5）岁，而诊断时的年龄为15.0 +/- 15.2（中位数10.0）岁。90%的患者在诊断时存在尿石症（平均7例，中位数1例，诊断前结石），48%的患者存在肾钙质沉着症。令人惊讶的是，15%的患者在诊断时无症状。95例患者中有19例在达到终末期肾病后首次被确认患有PH，其中7例患者在肾移植后才被诊断。患者随访12.1 +/- 10.6（中位数9.4）年。95例患者中有34例在诊断前（19例患者）或诊断后（15例患者）进展为终末期肾衰竭。在PH 1队列中，30岁时的精算肾脏存活率为64%，40岁时为47%，50岁时为29%。结论：我们已经开发了一个PH注册表，并证明了这种安全的，基于网络的数据输入方法的可行性。通过促进增加患者队列的积累，该登记研究应能够更完整地描述PH的临床表现、评估地理变异性并识别治疗结局。版权所有（C）2005 S. Karger AG，巴塞尔。
Background/Aims: Primary hyperoxaluria (PH) is an inherited disorder that causes calcium urolithiasis and renal failure. Due to its rarity, experience at most centers with this disease is limited. Methods: A secure, web-based, institutional review board/ethics committee and American Health Insurance Portability and Accountability Act ( HIPAA)-compliant registry was developed to facilitate international contributions to a data base. To date 95 PH patients have been entered. Results: PH type was confirmed in 84/95 (PH1 79%, PH2 9%). Mean age +/- SD at symptom onset was 9.5 +/- 10.2 ( median 5.5) years whereas age at diagnosis was 15.0 +/- 15.2 ( median 10.0) years. Urolithiasis was present at diagnosis in 90% ( mean 7, median 1, stones prior to diagnosis) and nephrocalcinosis in 48%. Surprisingly 15% of the patients were asymptomatic at the time of diagnosis. Nineteen of the 95 patients were first recognized to have PH after they had reached end-stage renal disease, with the diagnosis made only after kidney transplantation in 7 patients. Patients were followed for 12.1 +/- 10.6 ( median 9.4) years. Thirty-four of 95 progressed to end-stage renal failure, before ( 19 patients) or after ( 15 patients) diagnosis. In the PH1 cohort actuarial renal survival was 64% at 30 years of age, 47% at 40 years, and 29% at 50 years. Conclusion: We have developed a PH registry, and demonstrated the feasibility of this secure, web-based approach for data entry. By facilitating accumulation of an increasing cohort of patients, this registry should allow more complete characterization of clinical expression of PH, an appreciation of geographic variability, and identification of treatment outcomes. Copyright (C) 2005 S. Karger AG, Basel.