Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany
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 i...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2018-03-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/article/10.3389/fped.2018.00047/full |
| _version_ | 1819066442319921152 |
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| author | Jan Halbritter Anna Seidel Luise Müller Ria Schönauer Bernd Hoppe |
| author_facet | Jan Halbritter Anna Seidel Luise Müller Ria Schönauer Bernd Hoppe |
| author_sort | Jan Halbritter |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T16:02:25Z |
| format | Article |
| id | doaj.art-79a57c6d3a5a4500bd8880e240ad2e77 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-21T16:02:25Z |
| publishDate | 2018-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-79a57c6d3a5a4500bd8880e240ad2e772022-12-21T18:57:58ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602018-03-01610.3389/fped.2018.00047347053Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in GermanyJan Halbritter0Anna Seidel1Luise Müller2Ria Schönauer3Bernd Hoppe4Division of Nephrology, Department of Internal Medicine, University of Leipzig, Leipzig, GermanyDivision of Nephrology, Department of Internal Medicine, University of Leipzig, Leipzig, GermanyDivision of Nephrology, Department of Internal Medicine, University of Leipzig, Leipzig, GermanyDivision of Nephrology, Department of Internal Medicine, University of Leipzig, Leipzig, GermanyDivision of Pediatric Nephrology, University Children’s Hospital, Bonn, GermanyKidney 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.http://journal.frontiersin.org/article/10.3389/fped.2018.00047/fullnephrolithiasishereditarynephrocalcinosiskidney stone diseasemonogenicregistry |
| spellingShingle | Jan Halbritter Anna Seidel Luise Müller Ria Schönauer Bernd Hoppe Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany Frontiers in Pediatrics nephrolithiasis hereditary nephrocalcinosis kidney stone disease monogenic registry |
| title | Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany |
| title_full | Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany |
| title_fullStr | Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany |
| title_full_unstemmed | Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany |
| title_short | Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany |
| title_sort | update on hereditary kidney stone disease and introduction of a new clinical patient registry in germany |
| topic | nephrolithiasis hereditary nephrocalcinosis kidney stone disease monogenic registry |
| url | http://journal.frontiersin.org/article/10.3389/fped.2018.00047/full |
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