| Autor: |
Ben Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, Lilach C. Regev, Maayan Kagan, Aviva Eliyahu, Dina Marek-Yagel, Danit Atias-Varon, Einat Lahav, Naomi Issler, Omer Shlomovitz, Rotem Semo Oz, Nitzan Kol, Nofar Mor, Ifat Bar-Joseph, Yulia Khavkin, Elisheva Javasky, Pazit Beckerman, Meidad Greenberg, Oded Volovelsky, Yael Borovitz, Miriam Davidovits, Orly Haskin, Hadas Alfandary, Shely Levi, Maital Kaidar, Ze’ev Katzir, Avital Angel-Korman, Rachel Becker-Cohen, Efrat Ben-Shalom, Adi Leiba, Eytan Mor, Amit Dagan, Itai M. Pessach, Danny Lotan, Moshe Shashar, Yair Anikster, Annick Raas-Rothschild, Gideon Rechavi, Benjamin Dekel, Asaf Vivante |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Pediatric nephrology (Berlin, Germany). 37(7) |
| ISSN: |
1432-198X |
| Popis: |
Genetic kidney diseases contribute a significant portion of kidney diseases in children and young adults. Nephrogenetics is a rapidly evolving subspecialty; however, in the clinical setting, increased use of genetic testing poses implementation challenges. Consequently, we established a national nephrogenetics clinic to apply a multidisciplinary model.Patients were referred from different pediatric or adult nephrology units across the country if their primary nephrologist suspected an undiagnosed genetic kidney disease. We determined the diagnostic rate and observed the effect of diagnosis on medical care. We also discuss the requirements of a nephrogenetics clinic in terms of logistics, recommended indications for referral, and building a multidisciplinary team.Over 24 months, genetic evaluation was completed for a total of 74 unrelated probands, with an age range of 10 days to 72 years. The most common phenotypes included congenital anomalies of the kidneys and urinary tract, nephrotic syndrome or unexplained proteinuria, nephrocalcinosis/nephrolithiasis, tubulopathies, and unexplained kidney failure. Over 80% of patients were referred due to clinical suspicion of an undetermined underlying genetic diagnosis. A molecular diagnosis was reached in 42/74 probands, yielding a diagnostic rate of 57%. Of these, over 71% of diagnoses were made via next generation sequencing (gene panel or exome sequencing).We identified a substantial fraction of genetic kidney etiologies among previously undiagnosed individuals which influenced subsequent clinical management. Our results support that nephrogenetics, a rapidly evolving field, may benefit from well-defined multidisciplinary co-management administered by a designated team of nephrologist, geneticist, and bioinformatician. A higher resolution version of the Graphical abstract is available as Supplementary information. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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