Beyond the kidney: extra-renal manifestations of monogenic nephrolithiasis and their significance.
Background: The objective of this study was to explore the frequency of occurrence of extra-renal manifestations associated with monogenic nephrolithiasis. Methods: A literature review was conducted to identify genes that are monogenic causes of nephrolithiasis. The Online Mendelian Inheritance in M...
| Publicado en: | Pediatric Nephrology Vol. 39; no. 5; pp. 1429 - 1435 |
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| Autores principales: | , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Springer Nature
May2024
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=176081531&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 176081531 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 0931041X EF1 jtl: Pediatric Nephrology issn: 0931041X maglogo: N pubinfo: dt: May2024 vid: 39 iid: 5 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 176081531 174038716 176081531 176081531 10.1007/s00467-023-06242-z 176081531 ppf: 1429 ppct: 6 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Beyond the kidney: extra-renal manifestations of monogenic nephrolithiasis and their significance. aug: au: Wu, Chen-Han Wilfred Badreddine, Jad Su, Ethan Tay, Kimberly Lin, Hsin-Ti Cindy Rhodes, Stephen Schumacher, Fredrick Bodner, Donald affil: https://ror.org/051fd9666 Department of Urology, Case Western Reserve University School of Medicine and University Hospitals, 11100 Euclid Ave., 44106, Cleveland, OH, USA sug: subj: Urolithiasis Kidney Calculi Genes Physiology Human Chi Square Test Descriptive Statistics Literature Review Phenotype Post Hoc Analysis ab: Background: The objective of this study was to explore the frequency of occurrence of extra-renal manifestations associated with monogenic nephrolithiasis. Methods: A literature review was conducted to identify genes that are monogenic causes of nephrolithiasis. The Online Mendelian Inheritance in Man (OMIM) database was used to identify associated diseases and their properties. Disease phenotypes were ascertained using OMIM clinical synopses and sorted into 24 different phenotype categories as classified in OMIM. Disease phenotypes caused by the same gene were merged into a phenotypic profile of a gene (PPG) such that one PPG encompasses all related disease phenotypes for a specific gene. The total number of PPGs involving each phenotype category was measured, and the median phenotype category was determined. Phenotype categories were classified as overrepresented or underrepresented if the number of PPGs involving them was higher or lower than the median, respectively. Chi-square test was conducted to determine whether the number of PPGs affecting a given category significantly deviated from the median. Results: Fifty-five genes were identified as monogenic causes of nephrolithiasis. A total of six significantly overrepresented and three significantly underrepresented phenotype categories were identified (p < 0.05). Four phenotypic categories (growth, neurological, skeletal, and abdomen/gastrointestinal) are significantly overrepresented after Bonferroni correction for multiple comparisons (p < 0.002). Among all phenotypes, impaired growth is the most common manifestation. Conclusion: Recognizing the extra-renal manifestations associated with monogenic causes of kidney stones is critical for earlier diagnosis and optimal care in patients. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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