Genetic Testing in Nephrology: Show Your Pedigree!

Cirillo, Luigi; Becherucci, Francesca

doi:10.34067/kid.0002732022

Cited by 6 publications

(2 citation statements)

References 19 publications

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“…Consequently, testing for variants in COL4A3, A4 and A5 should be considered when genetic testing is performed in these patient groups. As our study utilized gene panel testing, whole exome or whole genome sequencing may improve diagnostic yield for some patients [20].…”

Section: Discussionmentioning

confidence: 99%

Detection of Alport gene variants in children and young people with persistent haematuria

Ng,

Yamamura,

Shenoy

et al. 2023

Preprint

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Background Genetic kidney disease is an important cause of persistent microscopic haematuria in children and young people. We aimed to determine the frequency of variants in the Alport syndrome genes (COL4A3, COL4A4 or COL4A5) in individuals under 18 years of age presenting with persistent microscopic haematuria to a single specialist centre in the United Kingdom over a 10-year period. Methods We conducted a retrospective longitudinal study of individuals referred to a tertiary paediatric nephrology service with persistent microscopic haematuria between April 2012 to 2022. Results 224 individuals (female 51.8%) were evaluated with persistent microscopic haematuria of greater than 6 months duration. The age at presentation was 7.5±4.3 years (mean±SD). Targeted exome sequencing was performed in 134 with 91 individuals (68%) identified to have a pathogenic or likely pathogenic variant in COL4A3, COL4A4 or COL4A5. Only 49.5% of individuals with identified variants had a family history of microscopic haematuria documented and 57.1% had additional proteinuria. COL4A5 was the commonest gene affected and missense variants affecting glycine residues were the most common variant type. Conclusion Over two thirds of children and young people who underwent genetic testing had an identifiable genetic basis for their microscopic haematuria and over half did not have a documented family history. Genetic testing should be part of the evaluation of persistent microscopic haematuria despite a negative family history.

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Section: Discussionmentioning

confidence: 99%

Detection of Alport gene variants in children and young people with persistent haematuria

Ng,

Yamamura,

Shenoy

et al. 2023

Preprint

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“…While disease awareness about genetic forms of CKD is certainly robust among pediatric nephrologists, how to integrate genetic testing in routine clinical practice, together with cost concerns, are still debated aspects that risk representing a bottleneck to further implementation in daily clinical practice [ 45 , 47 , 53 ]. As an answer to the constantly increasing demand of genetic testing in patients with CKD, organizations and healthcare systems have been trying to set up service delivery models for the optimization of genomic strategies into routine practice [ 55 ]. Although providing significantly different results, these preliminary experiences agree upon the clinical utility of genetic testing in patients with kidney diseases and CKD [ 49 , 50 , 56–60 ].…”

Section: Changing the Landscape Of Pediatric Ckd: The Role Of Geneticsmentioning

confidence: 99%

Chronic kidney disease in children: an update

Cirillo

Chiara

Innocenti

et al. 2023

Clinical Kidney Journal

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Chronic kidney disease (CKD) is a major healthcare issue worldwide. However, the prevalence of pediatric CKD has never been systematically assessed and consistent information is lacking in this population. The current definition of CKD is based on glomerular filtration rate (GFR) and the extent of albuminuria. Given the physiological age-related modification of GFR in the first years of life, the definition of CKD is challenging per se in the pediatric population, resulting in high risk of underdiagnosis in this population, treatment delays and untailored clinical management. The advent and spreading of massive-parallel sequencing technology has prompted a profound revision of the epidemiology and on the causes of CKD in children, supporting the hypothesis that CKD is much more frequent than currently reported in children and adolescents. This acquired knowledge will eventually converge in the identification of the molecular pathways and cellular response to damage, with new specific therapeutic targets to control disease progression and clinical features of children with CKD. In this review, we will focus on recent innovations in the field of pediatric CKD and in particular those where advances in knowledge have become available in the last years, to the aim of providing a new perspective on CKD in children and adolescents.

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COL4A gene variants are common in children with hematuria and a family history of kidney disease

et al. 2023

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Genetic Testing in Nephrology: Show Your Pedigree!

Abstract: This is an Early Access article. Please select the PDF button, above, to view it.

Cited by 6 publications

References 19 publications

Detection of Alport gene variants in children and young people with persistent haematuria

Detection of Alport gene variants in children and young people with persistent haematuria

Chronic kidney disease in children: an update

COL4A gene variants are common in children with hematuria and a family history of kidney disease

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