Monogenic features of urolithiasis: A comprehensive review
Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have sh...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-04-01
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| Series: | Asian Journal of Urology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214388223000401 |
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| author | Kyo Chul Koo Abdulghafour Halawani Victor K.F. Wong Dirk Lange Ben H. Chew |
| author_facet | Kyo Chul Koo Abdulghafour Halawani Victor K.F. Wong Dirk Lange Ben H. Chew |
| author_sort | Kyo Chul Koo |
| collection | DOAJ |
| description | Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have shown that urolithiasis has a strong heritable component. Methods: This review describes monogenic factors implicated in a genetic predisposition to urolithiasis. Peer-reviewed journals were evaluated by a PubMed search until July 2023 to summarize disorders associated with monogenic traits, and discuss clinical implications of identification of patients genetically susceptible to urolithiasis formation. Results: Given that more than 80% of urolithiases cases are associated with calcium accumulation, studies have focused mainly on monogenetic contributors to hypercalciuric urolithiases, leading to the identification of receptors, channels, and transporters involved in the regulation of calcium renal tubular reabsorption. Nevertheless, available candidate genes and linkage methods have a low resolution for evaluation of the effects of genetic components versus those of environmental, dietary, and hormonal factors, and genotypes remain undetermined in the majority of urolithiasis formers. Conclusion: The pathophysiology underlying urolithiasis formation is complex and multifactorial, but evidence strongly suggests the existence of numerous monogenic causes of urolithiasis in humans. |
| format | Article |
| id | doaj-art-e99f95bb6c2b4bb6bbd035686403f317 |
| institution | Kabale University |
| issn | 2214-3882 |
| language | English |
| publishDate | 2024-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Asian Journal of Urology |
| spelling | doaj-art-e99f95bb6c2b4bb6bbd035686403f3172025-08-20T03:24:37ZengElsevierAsian Journal of Urology2214-38822024-04-0111216917910.1016/j.ajur.2023.03.004Monogenic features of urolithiasis: A comprehensive reviewKyo Chul Koo0Abdulghafour Halawani1Victor K.F. Wong2Dirk Lange3Ben H. Chew4Department of Urology, Yonsei University College of Medicine, Seoul, Republic of KoreaDepartment of Urology, King Abdulaziz University, Jeddah, Saudi ArabiaDepartment of Urological Sciences, University of British Columbia, Stone Centre at Vancouver General Hospital, Vancouver, British Columbia, CanadaDepartment of Urological Sciences, University of British Columbia, Stone Centre at Vancouver General Hospital, Vancouver, British Columbia, CanadaDepartment of Urological Sciences, University of British Columbia, Stone Centre at Vancouver General Hospital, Vancouver, British Columbia, Canada; Corresponding author.Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have shown that urolithiasis has a strong heritable component. Methods: This review describes monogenic factors implicated in a genetic predisposition to urolithiasis. Peer-reviewed journals were evaluated by a PubMed search until July 2023 to summarize disorders associated with monogenic traits, and discuss clinical implications of identification of patients genetically susceptible to urolithiasis formation. Results: Given that more than 80% of urolithiases cases are associated with calcium accumulation, studies have focused mainly on monogenetic contributors to hypercalciuric urolithiases, leading to the identification of receptors, channels, and transporters involved in the regulation of calcium renal tubular reabsorption. Nevertheless, available candidate genes and linkage methods have a low resolution for evaluation of the effects of genetic components versus those of environmental, dietary, and hormonal factors, and genotypes remain undetermined in the majority of urolithiasis formers. Conclusion: The pathophysiology underlying urolithiasis formation is complex and multifactorial, but evidence strongly suggests the existence of numerous monogenic causes of urolithiasis in humans.http://www.sciencedirect.com/science/article/pii/S2214388223000401GeneGenetic expressionInheritance patternUrolithiasis |
| spellingShingle | Kyo Chul Koo Abdulghafour Halawani Victor K.F. Wong Dirk Lange Ben H. Chew Monogenic features of urolithiasis: A comprehensive review Asian Journal of Urology Gene Genetic expression Inheritance pattern Urolithiasis |
| title | Monogenic features of urolithiasis: A comprehensive review |
| title_full | Monogenic features of urolithiasis: A comprehensive review |
| title_fullStr | Monogenic features of urolithiasis: A comprehensive review |
| title_full_unstemmed | Monogenic features of urolithiasis: A comprehensive review |
| title_short | Monogenic features of urolithiasis: A comprehensive review |
| title_sort | monogenic features of urolithiasis a comprehensive review |
| topic | Gene Genetic expression Inheritance pattern Urolithiasis |
| url | http://www.sciencedirect.com/science/article/pii/S2214388223000401 |
| work_keys_str_mv | AT kyochulkoo monogenicfeaturesofurolithiasisacomprehensivereview AT abdulghafourhalawani monogenicfeaturesofurolithiasisacomprehensivereview AT victorkfwong monogenicfeaturesofurolithiasisacomprehensivereview AT dirklange monogenicfeaturesofurolithiasisacomprehensivereview AT benhchew monogenicfeaturesofurolithiasisacomprehensivereview |