Clinical features and outcomes of 98 children and adults with dense deposit disease.
Clinical features and outcomes of 98 children and adults with dense deposit disease.
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DOI：
10.1007/s00467-011-2059-7
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发表时间：
2012-05
影响因子：
3
通讯作者：
Smith, Richard J. H.
中科院分区：
文献类型：
--
作者：
Lu, Der-Fa;Moon, Mikyung;Lanning, Lynne D.;McCarthy, Ann Marie;Smith, Richard J. H.
致密存款病（DDD）是一种非常罕见的肾脏疾病。在这里报道的研究中，98名患者及其家属参加了一项以患者为中心的描述性调查，使用在线研究格式。报告由患者（38%）或其父母（62%）完成。诊断时的年龄范围为1.9至38.9岁（平均14岁）。大多数患者表现为蛋白尿和血尿; 50%有高血压和水肿。类固醇是常见的处方，尽管它们的使用没有证据为基础。患有DDD 10年的患者中有一半进展为终末期肾病（ESRD），其中年轻女性患肾衰竭的风险最大。在首次同种异体移植中，45%在5年内失败，最常见的原因是疾病复发（70%）。1型糖尿病（T1 D）存在于超过16%的家庭中，与一般人群相比，发病率增加了116倍（p<0.001）。基于这些研究结果，我们建议需要采取措施来探讨DDD患者家庭成员中T1 D的高发病率以及年轻女性DDD患者进展为ESRD的更大风险。这些努力必须得到足够数量的患者的支持，以建立基于证据的疾病管理实践指南。应开展国际合作研究调查，以鼓励广泛获取和参与。
Dense deposit disease (DDD) is an ultra-rare renal disease. In the study reported here, 98 patients and their families participated in a descriptive patient-centered survey using an online research format. Reports were completed by patients (38%) or their parents (62%). Age at diagnosis ranged from 1.9 to 38.9 years (mean 14 years). The majority of patients presented with proteinuria and hematuria; 50% had hypertension and edema. Steroids were commonly prescribed, although their use was not evidence-based. One-half of the patients with DDD for 10 years progressed to end-stage renal disease (ESRD), with young females having the greatest risk for renal failure. Of first allografts, 45% failed within 5 years, most frequently due to recurrent disease (70%). Type 1 diabetes (T1D) was present in over 16% of families, which represents a 116-fold increase in incidence compared with the general population (p<0.001). Based on these findings, we suggest that initiatives are needed to explore the high incidence of T1D in family members of DDD patients and the greater risk for progression to ESRD in young females with DDD. These efforts must be supported by sufficient numbers of patients to establish evidence-based practice guidelines for disease management. An international collaborative research survey should be implemented to encourage broad access and participation.
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影响因子：
64.8
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影响因子：
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作者：
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DOI：
10.1073/pnas.0601094103
发表时间：
2006-06-20
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