Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.
Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.
复制标题
DOI：
10.3389/fped.2018.00047
复制
发表时间：
2018
影响因子：
2.6
通讯作者：
Hoppe B
中科院分区：
文献类型：
--
作者：
Halbritter J;Seidel A;Müller L;Schönauer R;Hoppe B
肾结石病是一种日益普遍的疾病，在结石成分、发病年龄、复发率和肾功能损害方面具有显着的临床异质性。钙基肾结石占绝大多数病例，但人们对其病因知之甚少，尤其是其遗传驱动因素。最近的研究表明，遗传性疾病的患病率很可能被低估，并且新的疾病基因不断被发现。因此，迫切需要更有效地记录和收集具有潜在遗传性疾病的病例，以更好地了解共同的表型表现和常见的分子机制。通过在德国实施遗传性肾结石疾病的集中患者登记，我们的目标是帮助缩小肾结石疾病遗传学方面的巨大知识差距。在这种情况下，临床登记是必不可少的，原因如下：首先，描绘更好的表型-基因型关联将有助于在未来的临床研究中进行更精确的患者分层。其次，识别新的疾病基因和新的机制将进一步降低肾结石/肾钙质沉着症病因不明的发生率；第三，破译新的分子靶标将为开发预防严重受影响家庭复发的药物铺平道路。
Kidney stone disease is an increasingly prevalent condition with remarkable clinical heterogeneity, with regards to stone composition, age of manifestation, rate of recurrence, and impairment of kidney function. Calcium-based kidney stones account for the vast majority of cases, but their etiology is poorly understood, notably their genetic drivers. As recent studies indicate, hereditary conditions are most likely underestimated in prevalence, and new disease genes are constantly being identified. As a consequence, there is an urgent need of a more efficient documentation and collection of cases with underlying hereditary conditions, to better understand shared phenotypic presentation and common molecular mechanisms. By implementation of a centralized patient registry on hereditary kidney stone disease in Germany, we aim to help closing the vast knowledge gap on genetics of kidney stone disease. In this context, clinical registries are indispensable for several reasons: first, delineating better phenotype–genotype associations will allow more precise patient stratification in future clinical research studies. Second, identifying new disease genes and new mechanisms will further reduce the rate of unknown nephrolithiasis/nephrocalcinosis etiology; and third, deciphering new molecular targets will pave the way to develop drugs for recurrence prevention in severely affected families.
登录
查看更多内容
影响因子：
64.8
作者：
Enomoto, A;Kimura, H;Endou, H
通讯作者：
Endou, H
影响因子：
15.9
作者：
Dawson, Paul A.;Russell, Christopher S.;Markovich, Daniel
通讯作者：
Markovich, Daniel
DOI：
10.2215/cjn.07540715
发表时间：
2016-04-01
影响因子：
9.8
作者：
Braun, Daniela Anne;Lawson, Jennifer Ashley;Hildebrandt, Friedhelm
通讯作者：
Hildebrandt, Friedhelm
影响因子：
19.6
作者：
Daga A;Majmundar AJ;Braun DA;Gee HY;Lawson JA;Shril S;Jobst-Schwan T;Vivante A;Schapiro D;Tan W;Warejko JK;Widmeier E;Nelson CP;Fathy HM;Gucev Z;Soliman NA;Hashmi S;Halbritter J;Halty M;Kari JA;El-Desoky S;Ferguson MA;Somers MJG;Traum AZ;Stein DR;Daouk GH;Rodig NM;Katz A;Hanna C;Schwaderer AL;Sayer JA;Wassner AJ;Mane S;Lifton RP;Milosevic D;Tasic V;Baum MA;Hildebrandt F
通讯作者：
Hildebrandt F
影响因子：
9.8
作者：
Konrad, Martin;Schaller, Andre;Weber, Stefanie
通讯作者：
Weber, Stefanie