Genetic testing in children with nephrolithiasis and nephrocalcinosis.
Background: Diagnosing genetic kidney disease has become more accessible with low-cost, rapid genetic testing. The study objectives were to determine genetic testing diagnostic yield and examine predictors of genetic diagnosis in children with nephrolithiasis/nephrocalcinosis (NL/NC). Methods: This...
| Publicado en: | Pediatric Nephrology Vol. 38; no. 8; pp. 2615 - 2623 |
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| Autores principales: | , , , , , , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Springer Nature
Aug2023
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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=169702895&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 169702895 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 0931041X EF1 jtl: Pediatric Nephrology issn: 0931041X maglogo: N pubinfo: dt: Aug2023 vid: 38 iid: 8 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 169702895 161446007 169702895 169702895 10.1007/s00467-023-05879-0 169702895 ppf: 2615 ppct: 8 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Genetic testing in children with nephrolithiasis and nephrocalcinosis. aug: au: Gefen, Ashley M. Sethna, Christine B. Cil, Onur Perwad, Farzana Schoettler, Megan Michael, Mini Angelo, Joseph R. Safdar, Adnan Amlie-Wolf, Louise Hunley, Tracy E. Ellison, Jonathan S. Feig, Daniel Zaritsky, Joshua affil: Division of Nephrology, Department of Pediatrics, Cohen Children's Medical Center, 269-01 76th Ave, 11040, Queens, NY, USA sug: subj: Urolithiasis Diagnosis Nephrocalcinosis Diagnosis Genetic Screening Human Retrospective Design Cross Sectional Studies Multicenter Studies Child Adolescence Logistic Regression Odds Ratio Confidence Intervals Descriptive Statistics Funding Source Child: 6-12 years Adolescent: 13-18 years ab: Background: Diagnosing genetic kidney disease has become more accessible with low-cost, rapid genetic testing. The study objectives were to determine genetic testing diagnostic yield and examine predictors of genetic diagnosis in children with nephrolithiasis/nephrocalcinosis (NL/NC). Methods: This retrospective multicenter cross-sectional study was conducted on children ≤ 21 years old with NL/NC from pediatric nephrology/urology centers that underwent the Invitae Nephrolithiasis Panel 1/1/2019–9/30/2021. The diagnostic yield of the genetic panel was calculated. Bivariate and multiple logistic regression were performed to assess for predictors of positive genetic testing. Results: One hundred and thirteen children (83 NL, 30 NC) from 7 centers were included. Genetic testing was positive in 32% overall (29% NL, 40% NC) with definite diagnoses (had pathogenic variants alone) made in 11.5%, probable diagnoses (carried a combination of pathogenic variants and variants of uncertain significance (VUS) in the same gene) made in 5.4%, and possible diagnoses (had VUS alone) made in 15.0%. Variants were found in 28 genes (most commonly HOGA1 in NL, SLC34A3 in NC) and 20 different conditions were identified. Compared to NL, those with NC were younger and had a higher proportion with developmental delay, hypercalcemia, low serum bicarbonate, hypophosphatemia, and chronic kidney disease. In multivariate analysis, low serum bicarbonate was associated with increased odds of genetic diagnosis (β 2.2, OR 8.7, 95% CI 1.4–54.7, p = 0.02). Conclusions: Genetic testing was high-yield with definite, probable, or possible explanatory variants found in up to one-third of children with NL/NC and shows promise to improve clinical practice. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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