A multidisciplinary nephrogenetic referral clinic for children and adults—diagnostic achievements and insights
- 07.01.2022
- Original Article
Erschienen in:
- Verfasst von
- 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
- Erschienen in
- Pediatric Nephrology | Ausgabe 7/2022
Abstract
Background
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.
Methods
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.
Results
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).
Conclusions
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.
Graphical abstract
A higher resolution version of the Graphical abstract is available as Supplementary information
Anzeige
- Titel
- A multidisciplinary nephrogenetic referral clinic for children and adults—diagnostic achievements and insights
- Verfasst von
-
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
- Publikationsdatum
- 07.01.2022
- Verlag
- Springer Berlin Heidelberg
- Erschienen in
-
Pediatric Nephrology / Ausgabe 7/2022
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X - DOI
- https://doi.org/10.1007/s00467-021-05374-4
Dieser Inhalt ist nur sichtbar, wenn du eingeloggt bist und die entsprechende Berechtigung hast.
Dieser Inhalt ist nur sichtbar, wenn du eingeloggt bist und die entsprechende Berechtigung hast.
