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DC Field | Value | Language |
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dc.contributor.author | MacGregor D. | en |
dc.contributor.author | Stark Z. | en |
dc.contributor.author | Wilkins E. | en |
dc.contributor.author | Simons C. | en |
dc.contributor.author | Mallett A. | en |
dc.contributor.author | Quinlan C. | en |
dc.contributor.author | Jayasinghe K. | en |
dc.contributor.author | White S.M. | en |
dc.contributor.author | Kerr P.G. | en |
dc.date.accessioned | 2021-05-14T12:10:19Z | en |
dc.date.available | 2021-05-14T12:10:19Z | en |
dc.date.copyright | 2019 | en |
dc.date.created | 20190905 | en |
dc.date.issued | 2019-09-05 | en |
dc.identifier.citation | BMC Nephrology. 20 (1) (no pagination), 2019. Article Number: 330. Date of Publication: 22 Aug 2019. | en |
dc.identifier.issn | 1471-2369 (electronic) | en |
dc.identifier.uri | https://repository.monashhealth.org/monashhealthjspui/handle/1/35945 | en |
dc.description.abstract | Background: Proteinuria is a common clinical presentation, the diagnostic workup for which involves many non-invasive and invasive investigations. We report on two siblings that highlight the clinically relevant functional role of cubulin for albumin resorption in the proximal tubule and supports the use of genomic sequencing early in the diagnostic work up of patients who present with proteinuria. Case presentation: An 8-year-old boy was referred with an incidental finding of proteinuria. All preliminary investigations were unremarkable. Further assessment revealed consanguineous family history and a brother with isolated proteinuria. Renal biopsy demonstrated normal light microscopy and global glomerular basement membrane thinning on electron microscopy. Chromosomal microarray revealed long continuous stretches of homozygosity (LCSH) representing ~ 4.5% of the genome. Shared regions of LCSH between the brothers were identified and their further research genomic analysis implicated a homozygous stop-gain variant in CUBN (10p12.31). Conclusion(s): CUBN mutations have been implicated as a hereditary cause of megaloblastic anaemia and variable proteinuria. This is the second reported family with isolated proteinuria due to biallelic CUBN variants in the absence of megaloblastic anaemia, demonstrating the ability of genomic testing to identify genetic causes of nephropathy within expanding associated phenotypic spectra. Genomic sequencing, undertaken earlier in the diagnostic trajectory, may reduce the need for invasive investigations and the time to definitive diagnosis for patients and families.Copyright © 2019 The Author(s). | en |
dc.language | English | en |
dc.language | en | en |
dc.publisher | BioMed Central Ltd. (E-mail: info@biomedcentral.com) | en |
dc.relation.ispartof | BMC Nephrology | en |
dc.title | Isolated proteinuria due to CUBN homozygous mutation - Challenging the investigative paradigm. | en |
dc.type | Article | en |
dc.type.studyortrial | Case series or case report | - |
dc.identifier.doi | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1186/s12882-019-1474-z | en |
dc.publisher.place | United Kingdom | en |
dc.identifier.pubmedid | 31438875 [http://www.ncbi.nlm.nih.gov/pubmed/?term=31438875] | en |
dc.identifier.source | 628987129 | en |
dc.identifier.institution | (Jayasinghe, Kerr) Department of Nephrology, Monash Medical Centre, Melbourne, Australia (Jayasinghe, Kerr) Monash University, Melbourne, Australia (Jayasinghe, Stark, Wilkins, Simons, Mallett, Quinlan) Murdoch Children's Research Institute, Melbourne, Australia (Jayasinghe, White, Stark, Wilkins, Simons, Mallett, Quinlan) KidGen Collaborative, Australian Genomics Health Alliance, VIC, Australia (White, Stark) Department of Paediatrics, University of Melbourne, VIC, Australia (White, Stark, Wilkins) Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia (MacGregor) Department of Pathology, Royal Children's Hospital, Melbourne, Australia (Mallett) Kidney Health Service and Conjoint Renal Research Laboratory, Royal Brisbane and Women's Hospital, Brisbane, Australia (Mallett) Institute for Molecular Bioscience, Faculty of Medicine, University of Queensland, Brisbane, Australia (Quinlan) Department of Paediatric Nephrology, Royal Children's Hospital, 50 Flemington Street, Parkville, Australia | en |
dc.description.address | C. Quinlan, Department of Paediatric Nephrology, Royal Children's Hospital, 50 Flemington Street, Parkville, Australia. E-mail: catherine.quinlan@rch.org.au | en |
dc.description.publicationstatus | Embase | en |
dc.rights.statement | Copyright 2019 Elsevier B.V., All rights reserved. | en |
dc.subect.keywords | Chronic kidney disease Genetics Genomics | en |
dc.identifier.authoremail | Kerr P.G.; peter.kerr@monash.edu Jayasinghe K.; kushani.jayasinghe@monash.edu Simons C.; cas.simons@mcri.edu.au White S.M.; sue.white@vcgs.org.au Stark Z.; zornitza.stark@vcgs.org.au Wilkins E.; ella.wilkins@vcgs.org.au MacGregor D.; duncan.macgregor@rch.org.au Mallett A.; andrew.mallett@gmail.com Quinlan C.; catherine.quinlan@rch.org.au | en |
item.cerifentitytype | Publications | - |
item.fulltext | No Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.grantfulltext | none | - |
item.openairetype | Article | - |
crisitem.author.dept | Nephrology | - |
Appears in Collections: | Articles |
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