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• W2765279432 abstract "No AccessJournal of UrologyReview Article1 Mar 2018Personalized Intervention in Monogenic Stone Formers Lucas J. Policastro, Subodh J. Saggi, David S. Goldfarb, and Jeffrey P. Weiss Lucas J. PolicastroLucas J. Policastro Department of Medicine, SUNY Downstate Medical Center, Brooklyn, New York More articles by this author , Subodh J. SaggiSubodh J. Saggi Department of Nephrology, SUNY Downstate Medical Center, Brooklyn, New York More articles by this author , David S. GoldfarbDavid S. Goldfarb Nephrology Section, NY Harbor VA Medical Center, New York, New York Nephrology Division, New York University School of Medicine, New York, New York Supported by grants from the National Institute of Diabetes and Digestive and Kidney Diseases, and the National Center for Advancing Translational Sciences. Financial interest and/or other relationship with Allena, AstraZeneca, Cymabay, Ironwood, Revive and Ravine Group. More articles by this author , and Jeffrey P. WeissJeffrey P. Weiss Department of Urology, SUNY Downstate Medical Center, Brooklyn, New York Urology Service, NY Harbor VA Medical Center, New York, New York Financial interest and/or other relationship with Ferring, Pfizer and Allergan. More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2017.09.143AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: Treatment of a first-time renal stone consists of acute management followed by medical efforts to prevent stone recurrence. Although nephrolithiasis is roughly 50% heritable, the presence of a family history usually does not affect treatment since most stone disease is regarded as polygenic, ie not attributable to a single gene. Recent evidence has suggested that single mutations could be responsible for a larger proportion of renal stones than previously thought. This intriguing possibility holds the potential to change the management paradigm in stone prevention from metabolically directed therapy to more specific approaches informed by genetic screening and testing. This review synthesizes new findings concerning monogenic kidney stone disease, and provides a concise and clinically useful reference for monogenic causes. It is expected that increased awareness of these etiologies will lead to increased use of genetic testing in recurrent stone formers and further research into the prevalence of monogenic stone disease. Materials and Methods: We assembled a complete list of genes known to cause or influence nephrolithiasis based on recent reviews and commentaries. We then comprehensively searched PubMed® and Google Scholar™ for all research on each gene having a pertinent role in nephrolithiasis. We determined which genes could be considered monogenic causes of nephrolithiasis. One gene, ALPL, was excluded since nephrolithiasis is a relatively minor aspect of the disorder associated with the gene (hypophosphatasia). We summarized selected studies and assembled clinically relevant details. Results: A total of 27 genes were reviewed in terms of recent findings, mode of inheritance of stone disease, known or supposed prevalence of mutations in the general population of stone patients and specific therapies or considerations. Conclusions: There is a distinct opportunity for increased use of genetic testing to improve the lives of pediatric and adult stone patients. Several genes first reported in association with rare disease may be loci for novel mutations, heterozygous disease and forme frustes as causes of stones in the broader population. Cases of idiopathic nephrolithiasis should be considered as potentially having a monogenic basis. References 1 : The role of the 24-hour urine collection in the prevention of kidney stone recurrence. J Urol2017; 197: 1084. 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Available at https://www.ncbi.nlm.nih.gov/books/NBK1973/. Accessed March 28, 2017. Google Scholar 47 : Mutations in SLC26A1 cause nephrolithiasis. Am J Hum Genet2016; 98: 1228. Google Scholar 48 : Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice. J Clin Invest2010; 120: 706. Google Scholar 49 : Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. J Clin Endocrinol Metab2002; 87: 1476. Google Scholar © 2018 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetailsCited byAssimos D (2020) Re: Claudin-2 Deficiency Associates with Hypercalciuria in Mice and Human Kidney Stone DiseaseJournal of Urology, VOL. 204, NO. 2, (379-380), Online publication date: 1-Aug-2020.Assimos D (2019) Re: Juvenile Onset IIH and CYP24A1 MutationsJournal of Urology, VOL. 201, NO. 6, (1047-1048), Online publication date: 1-Jun-2019. Volume 199Issue 3March 2018Page: 623-632 Advertisement Copyright & Permissions© 2018 by American Urological Association Education and Research, Inc.Keywordskidney calculihypercalciuriageneticsnephrolithiasisprecision medicineMetricsAuthor Information Lucas J. Policastro Department of Medicine, SUNY Downstate Medical Center, Brooklyn, New York More articles by this author Subodh J. Saggi Department of Nephrology, SUNY Downstate Medical Center, Brooklyn, New York More articles by this author David S. Goldfarb Nephrology Section, NY Harbor VA Medical Center, New York, New York Nephrology Division, New York University School of Medicine, New York, New York Supported by grants from the National Institute of Diabetes and Digestive and Kidney Diseases, and the National Center for Advancing Translational Sciences. Financial interest and/or other relationship with Allena, AstraZeneca, Cymabay, Ironwood, Revive and Ravine Group. More articles by this author Jeffrey P. Weiss Department of Urology, SUNY Downstate Medical Center, Brooklyn, New York Urology Service, NY Harbor VA Medical Center, New York, New York Financial interest and/or other relationship with Ferring, Pfizer and Allergan. More articles by this author Expand All Advertisement PDF downloadLoading ..." @default.
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