The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution
Abstract Purpose Inherited kidney diseases are among the leading causes of kidney failure in children, resulting in increased mortality, high healthcare costs and need for organ transplantation. Next-generation sequencing technologies can help in the diagnosis of rare monogenic conditions, allowing...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-02-01
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| Series: | Human Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40246-023-00456-w |
| _version_ | 1797864122043334656 |
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| author | Tiziana Vaisitti Valeria Bracciamà Angelo Corso Faini Giulia Margherita Brach Del Prever Martina Callegari Silvia Kalantari Fiorenza Mioli Carmelo Maria Romeo Maria Luca Roberta Camilla Francesca Mattozzi Bruno Gianoglio Licia Peruzzi Antonio Amoroso Silvia Deaglio |
| author_facet | Tiziana Vaisitti Valeria Bracciamà Angelo Corso Faini Giulia Margherita Brach Del Prever Martina Callegari Silvia Kalantari Fiorenza Mioli Carmelo Maria Romeo Maria Luca Roberta Camilla Francesca Mattozzi Bruno Gianoglio Licia Peruzzi Antonio Amoroso Silvia Deaglio |
| author_sort | Tiziana Vaisitti |
| collection | DOAJ |
| description | Abstract Purpose Inherited kidney diseases are among the leading causes of kidney failure in children, resulting in increased mortality, high healthcare costs and need for organ transplantation. Next-generation sequencing technologies can help in the diagnosis of rare monogenic conditions, allowing for optimized medical management and therapeutic choices. Methods Clinical exome sequencing (CES) was performed on a cohort of 191 pediatric patients from a single institution, followed by Sanger sequencing to confirm identified variants and for family segregation studies. Results All patients had a clinical diagnosis of kidney disease: the main disease categories were glomerular diseases (32.5%), ciliopathies (20.4%), CAKUT (17.8%), nephrolithiasis (11.5%) and tubular disease (10.5%). 7.3% of patients presented with other conditions. A conclusive genetic test, based on CES and Sanger validation, was obtained in 37.1% of patients. The highest detection rate was obtained for ciliopathies (74.4%), followed by nephrolithiasis (45.5%), tubular diseases (45%), while most glomerular diseases and CAKUT remained undiagnosed. Conclusions Results indicate that genetic testing consistently used in the diagnostic workflow of children with chronic kidney disease can (i) confirm clinical diagnosis, (ii) provide early diagnosis in the case of inherited conditions, (iii) find the genetic cause of previously unrecognized diseases and (iv) tailor transplantation programs. |
| first_indexed | 2024-04-09T22:46:28Z |
| format | Article |
| id | doaj.art-eff76b82f23141299a1db39c6dc4dfb5 |
| institution | Directory Open Access Journal |
| issn | 1479-7364 |
| language | English |
| last_indexed | 2024-04-09T22:46:28Z |
| publishDate | 2023-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj.art-eff76b82f23141299a1db39c6dc4dfb52023-03-22T11:50:05ZengBMCHuman Genomics1479-73642023-02-0117111210.1186/s40246-023-00456-wThe role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institutionTiziana Vaisitti0Valeria Bracciamà1Angelo Corso Faini2Giulia Margherita Brach Del Prever3Martina Callegari4Silvia Kalantari5Fiorenza Mioli6Carmelo Maria Romeo7Maria Luca8Roberta Camilla9Francesca Mattozzi10Bruno Gianoglio11Licia Peruzzi12Antonio Amoroso13Silvia Deaglio14Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”Pediatric Nephrology Dialysis and Transplantation, University Hospital “Città della Salute e della Scienza di Torino”Pediatric Nephrology Dialysis and Transplantation, University Hospital “Città della Salute e della Scienza di Torino”Pediatric Nephrology Dialysis and Transplantation, University Hospital “Città della Salute e della Scienza di Torino”Pediatric Nephrology Dialysis and Transplantation, University Hospital “Città della Salute e della Scienza di Torino”Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”Abstract Purpose Inherited kidney diseases are among the leading causes of kidney failure in children, resulting in increased mortality, high healthcare costs and need for organ transplantation. Next-generation sequencing technologies can help in the diagnosis of rare monogenic conditions, allowing for optimized medical management and therapeutic choices. Methods Clinical exome sequencing (CES) was performed on a cohort of 191 pediatric patients from a single institution, followed by Sanger sequencing to confirm identified variants and for family segregation studies. Results All patients had a clinical diagnosis of kidney disease: the main disease categories were glomerular diseases (32.5%), ciliopathies (20.4%), CAKUT (17.8%), nephrolithiasis (11.5%) and tubular disease (10.5%). 7.3% of patients presented with other conditions. A conclusive genetic test, based on CES and Sanger validation, was obtained in 37.1% of patients. The highest detection rate was obtained for ciliopathies (74.4%), followed by nephrolithiasis (45.5%), tubular diseases (45%), while most glomerular diseases and CAKUT remained undiagnosed. Conclusions Results indicate that genetic testing consistently used in the diagnostic workflow of children with chronic kidney disease can (i) confirm clinical diagnosis, (ii) provide early diagnosis in the case of inherited conditions, (iii) find the genetic cause of previously unrecognized diseases and (iv) tailor transplantation programs.https://doi.org/10.1186/s40246-023-00456-wClinical exome sequencingNext-generation sequencingKidney diseasesGenetic testingPediatric cohort |
| spellingShingle | Tiziana Vaisitti Valeria Bracciamà Angelo Corso Faini Giulia Margherita Brach Del Prever Martina Callegari Silvia Kalantari Fiorenza Mioli Carmelo Maria Romeo Maria Luca Roberta Camilla Francesca Mattozzi Bruno Gianoglio Licia Peruzzi Antonio Amoroso Silvia Deaglio The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution Human Genomics Clinical exome sequencing Next-generation sequencing Kidney diseases Genetic testing Pediatric cohort |
| title | The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution |
| title_full | The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution |
| title_fullStr | The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution |
| title_full_unstemmed | The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution |
| title_short | The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution |
| title_sort | role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases the experience of a single institution |
| topic | Clinical exome sequencing Next-generation sequencing Kidney diseases Genetic testing Pediatric cohort |
| url | https://doi.org/10.1186/s40246-023-00456-w |
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