Literature DB >> 23179194

The renal biopsy in the genomic era.

Helen Liapis1, Joseph P Gaut.   

Abstract

Renal biopsy was introduced in the 1950s. By 1980 the pathologic diagnostic criteria for the majority of medical kidney diseases known today, including pediatric diseases, were established using light, electron microscopy and immunohistochemistry. However, it has become clear that there are limitations in the morphologic evaluation, mainly because a given pattern of injury can be caused by different aetiologies and, conversely, a single aetiology may present with more than one histological pattern. An explosion in kidney disease research in the last 20-30 years has brought new knowledge from bench to bedside rapidly and resulted in new molecular and genetic tools that enhance the diagnostic and prognostic power of the renal biopsy. Genomic technologies such as polymerase chain reaction (PCR), in situ hybridization and oligonucleotide microarrays, collectively known as genomics, detect single or multiple genes underscoring the pathologic changes and revealing specific causes of injury that may require different treatment. The aims of this review are to (1) summarize current recommendations for diagnostic renal biopsies encompassing light microscopy, immunofluorescence or immunohistochemistry and electron microscopy; (2) address the limitations of morphology; (3) show current contributions of genomic technologies adjunct to the renal biopsy, and provide examples of how these may transform pathologic interpretation into molecular disease phenotypes.

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Year:  2012        PMID: 23179194     DOI: 10.1007/s00467-012-2356-9

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.714


  109 in total

1.  NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Authors:  N Boute; O Gribouval; S Roselli; F Benessy; H Lee; A Fuchshuber; K Dahan; M C Gubler; P Niaudet; C Antignac
Journal:  Nat Genet       Date:  2000-04       Impact factor: 38.330

Review 2.  Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome.

Authors:  R Habib; M C Gubler; C Antignac; M F Gagnadoux
Journal:  Adv Nephrol Necker Hosp       Date:  1993

Review 3.  Dense deposit disease.

Authors:  Richard J H Smith; Claire L Harris; Matthew C Pickering
Journal:  Mol Immunol       Date:  2011-05-24       Impact factor: 4.407

Review 4.  Membranous nephropathy: recent travels and new roads ahead.

Authors:  Laurence H Beck; David J Salant
Journal:  Kidney Int       Date:  2010-02-24       Impact factor: 10.612

5.  Advances in Alport syndrome diagnosis using next-generation sequencing.

Authors:  Rosangela Artuso; Chiara Fallerini; Laura Dosa; Francesca Scionti; Maurizio Clementi; Guido Garosi; Laura Massella; Maria Carmela Epistolato; Roberta Mancini; Francesca Mari; Ilaria Longo; Francesca Ariani; Alessandra Renieri; Mirella Bruttini
Journal:  Eur J Hum Genet       Date:  2011-09-07       Impact factor: 4.246

6.  Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.

Authors:  C Jeanpierre; E Denamur; I Henry; M O Cabanis; S Luce; A Cécille; J Elion; M Peuchmaur; C Loirat; P Niaudet; M C Gubler; C Junien
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

7.  Incidental healed postinfectious glomerulonephritis: a study of 1012 renal biopsy specimens examined by electron microscopy.

Authors:  Mark Haas
Journal:  Hum Pathol       Date:  2003-01       Impact factor: 3.466

8.  Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

Authors:  Rainer G Ruf; Anne Lichtenberger; Stephanie M Karle; Johannes P Haas; Franzisco E Anacleto; Michael Schultheiss; Isabella Zalewski; Anita Imm; Eva-Maria Ruf; Bettina Mucha; Arvind Bagga; Thomas Neuhaus; Arno Fuchshuber; Aysin Bakkaloglu; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2004-03       Impact factor: 10.121

9.  Laser microdissection and mass spectrometry-based proteomics aids the diagnosis and typing of renal amyloidosis.

Authors:  Sanjeev Sethi; Julie A Vrana; Jason D Theis; Nelson Leung; Anjali Sethi; Samih H Nasr; Fernando C Fervenza; Lynn D Cornell; Mary E Fidler; Ahmet Dogan
Journal:  Kidney Int       Date:  2012-04-11       Impact factor: 10.612

10.  Historical milestones in renal pathology.

Authors:  Jan J Weening; J Charles Jennette
Journal:  Virchows Arch       Date:  2012-06-03       Impact factor: 4.064

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  11 in total

1.  The interface of genetics with pathology in alport nephritis.

Authors:  Helen Liapis; Sanjay Jain
Journal:  J Am Soc Nephrol       Date:  2013-09-26       Impact factor: 10.121

Review 2.  The nephrologist of tomorrow: towards a kidney-omic future.

Authors:  Mina H Hanna; Alessandra Dalla Gassa; Gert Mayer; Gianluigi Zaza; Patrick D Brophy; Loreto Gesualdo; Francesco Pesce
Journal:  Pediatr Nephrol       Date:  2016-03-09       Impact factor: 3.714

3.  Clinical Genetic Screening in Adult Patients with Kidney Disease.

Authors:  Enrico Cocchi; Jordan Gabriela Nestor; Ali G Gharavi
Journal:  Clin J Am Soc Nephrol       Date:  2020-07-09       Impact factor: 8.237

Review 4.  Genomic medicine for kidney disease.

Authors:  Emily E Groopman; Hila Milo Rasouly; Ali G Gharavi
Journal:  Nat Rev Nephrol       Date:  2018-01-08       Impact factor: 28.314

5.  Risk factors for complications of percutaneous ultrasound-guided renal biopsy in children.

Authors:  Jhao-Jhuang Ding; Shih-Hua Lin; Jing-Long Huang; Tai-Wei Wu; Shao-Hsuan Hsia; Jainn-Jim Lin; Yu-Ching Chou; Min-Hua Tseng
Journal:  Pediatr Nephrol       Date:  2019-11-14       Impact factor: 3.714

6.  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

7.  Practice patterns and approach to kidney biopsy in lupus: a collaboration of the Midwest Pediatric Nephrology Consortium and the Childhood Arthritis and Rheumatology Research Alliance.

Authors:  Scott E Wenderfer; Jerome C Lane; Ibrahim F Shatat; Emily von Scheven; Natasha M Ruth
Journal:  Pediatr Rheumatol Online J       Date:  2015-06-19       Impact factor: 3.054

Review 8.  Focal segmental glomerulosclerosis: molecular genetics and targeted therapies.

Authors:  Ying Maggie Chen; Helen Liapis
Journal:  BMC Nephrol       Date:  2015-07-09       Impact factor: 2.388

9.  Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.

Authors:  Rajshekhar Chatterjee; Mary Hoffman; Paul Cliften; Surya Seshan; Helen Liapis; Sanjay Jain
Journal:  PLoS One       Date:  2013-10-10       Impact factor: 3.240

10.  Podocyte Depletion in Thin GBM and Alport Syndrome.

Authors:  Larysa Wickman; Jeffrey B Hodgin; Su Q Wang; Farsad Afshinnia; David Kershaw; Roger C Wiggins
Journal:  PLoS One       Date:  2016-05-18       Impact factor: 3.240

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