Literature DB >> 35088158

Approach to genetic testing to optimize the safety of living donor transplantation in Alport syndrome spectrum.

Yasar Caliskan1, Krista L Lentine2.   

Abstract

Alport syndrome spectrum can be considered as a group of genetic diseases affecting the major basement membrane collagen type IV network in various organs including the ear, eye, and kidney. The living donor candidate evaluation is an ever-changing landscape. Recently, next-generation sequence (NGS) panels have become readily available and provide opportunities to genetically screen recipient and donor candidates for collagen network gene variants. In this review, our aim is to provide a comprehensive update on the role of genetic testing for the evaluation of potential living kidney donors to kidney candidates with Alport syndrome spectrum. We examine the utility of genetic testing in the evaluation of potential donors for recipients with Alport syndrome spectrum, and discuss risks and unresolved challenges. Suggested algorithms in the context of related and unrelated donation are offered. In contemporary practice, an approach to the evaluation of living donor candidates for transplant candidates with Alport syndrome spectrum can incorporate genetic testing in algorithms tailored for donor-recipient relationship status. Ongoing research is needed to inform optimal practice.
© 2022. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.

Entities:  

Keywords:  Alport syndrome; Collagen; Genetics; Genomic medicine; Kidney; Living donor; Thin basement membrane nephropathy; Transplantation

Mesh:

Substances:

Year:  2022        PMID: 35088158     DOI: 10.1007/s00467-022-05430-7

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.651


  73 in total

Review 1.  Molecular genetics of basement membranes: the paradigm of Alport syndrome.

Authors:  C Antignac
Journal:  Kidney Int Suppl       Date:  1995-06       Impact factor: 10.545

Review 2.  Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis.

Authors:  Erol Demir; Yasar Caliskan
Journal:  Pediatr Nephrol       Date:  2019-06-28       Impact factor: 3.714

3.  Value of electron microscopy in the pathological diagnosis of native kidney biopsies in children.

Authors:  Xu Zhang; Jin Xu; Huijie Xiao; Yong Yao; Hui Wang; Yali Ren; Mingming Liu; Fang Wang; Xuhui Zhong; Xiaoyu Liu; Baige Su; Ming Cheng; Lijun Chai; Jie Ding; Suxia Wang
Journal:  Pediatr Nephrol       Date:  2020-07-03       Impact factor: 3.714

4.  Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations.

Authors:  Johanna Temme; Frederick Peters; Katharina Lange; Yves Pirson; Laurence Heidet; Roser Torra; Jean-Pierre Grunfeld; Manfred Weber; Christoph Licht; Gerhard-Anton Müller; Oliver Gross
Journal:  Kidney Int       Date:  2012-01-11       Impact factor: 10.612

5.  Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

Authors:  Clifford E Kashtan; Jie Ding; Guido Garosi; Laurence Heidet; Laura Massella; Koichi Nakanishi; Kandai Nozu; Alessandra Renieri; Michelle Rheault; Fang Wang; Oliver Gross
Journal:  Kidney Int       Date:  2018-03-16       Impact factor: 10.612

6.  Outcome of thirty patients with Alport's syndrome after renal transplantation.

Authors:  E Peten; Y Pirson; J P Cosyns; J P Squifflet; G P Alexandre; L H Noël; J P Grünfeld; C van Ypersele de Strihou
Journal:  Transplantation       Date:  1991-11       Impact factor: 4.939

7.  Kidney transplantation in Alport's syndrome: long-term outcome and allograft anti-GBM nephritis.

Authors:  J Göbel; C J Olbricht; G Offner; U Helmchen; H Repp; K M Koch; U Frei
Journal:  Clin Nephrol       Date:  1992-12       Impact factor: 0.975

8.  Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults.

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Journal:  Am J Nephrol       Date:  1985       Impact factor: 3.754

9.  Diagnostic Utility of Exome Sequencing for Kidney Disease.

Authors:  Emily E Groopman; Maddalena Marasa; Sophia Cameron-Christie; Slavé Petrovski; Vimla S Aggarwal; Hila Milo-Rasouly; Yifu Li; Junying Zhang; Jordan Nestor; Priya Krithivasan; Wan Yee Lam; Adele Mitrotti; Stacy Piva; Byum H Kil; Debanjana Chatterjee; Rachel Reingold; Drew Bradbury; Michael DiVecchia; Holly Snyder; Xueru Mu; Karla Mehl; Olivia Balderes; David A Fasel; Chunhua Weng; Jai Radhakrishnan; Pietro Canetta; Gerald B Appel; Andrew S Bomback; Wooin Ahn; Natalie S Uy; Shumyle Alam; David J Cohen; Russell J Crew; Geoffrey K Dube; Maya K Rao; Sitharthan Kamalakaran; Brett Copeland; Zhong Ren; Joshua Bridgers; Colin D Malone; Caroline M Mebane; Neha Dagaonkar; Bengt C Fellström; Carolina Haefliger; Sumit Mohan; Simone Sanna-Cherchi; Krzysztof Kiryluk; Jan Fleckner; Ruth March; Adam Platt; David B Goldstein; Ali G Gharavi
Journal:  N Engl J Med       Date:  2018-12-26       Impact factor: 176.079

10.  Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome.

Authors:  Jeffrey H Miner
Journal:  Kidney Int       Date:  2014-12       Impact factor: 10.612

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  1 in total

Review 1.  A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology.

Authors:  Abraham W Aron; Neera K Dahl; Whitney Besse
Journal:  Kidney360       Date:  2022-07-08
  1 in total

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