Literature DB >> 15856317

Familial hematurias: what we know and what we don't.

Clifford E Kashtan.   

Abstract

Over the past 30 years we have learned a great deal about the molecular genetics and natural history of familial forms of hematuria. Our enhanced understanding of these conditions has yet to generate effective therapies for Alport syndrome, the form of familial hematuria associated with end-stage renal disease. This review briefly presents the current state of knowledge about familial hematuria and argues for the organization of clinical therapeutic trials in Alport syndrome.

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Year:  2005        PMID: 15856317     DOI: 10.1007/s00467-005-1859-z

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


  76 in total

1.  Incidence of thin membrane nephropathy: morphometric investigation of a population sample.

Authors:  F E Dische; V E Anderson; S J Keane; D Taube; M Bewick; V Parsons
Journal:  J Clin Pathol       Date:  1990-06       Impact factor: 3.411

2.  Abnormal glomerular basement membrane laminins in murine, canine, and human Alport syndrome: aberrant laminin alpha2 deposition is species independent.

Authors:  Clifford E Kashtan; Youngki Kim; George E Lees; Paul S Thorner; Ismo Virtanen; Jeffrey H Miner
Journal:  J Am Soc Nephrol       Date:  2001-02       Impact factor: 10.121

3.  Adenovirus-mediated gene transfer into kidney glomeruli using an ex vivo and in vivo kidney perfusion system - first steps towards gene therapy of Alport syndrome.

Authors:  P Heikkila; T Parpala; O Lukkarinen; M Weber; K Tryggvason
Journal:  Gene Ther       Date:  1996-01       Impact factor: 5.250

4.  A novel surgical organ perfusion method for effective ex vivo and in vivo gene transfer into renal glomerular cells.

Authors:  T Parpala-Spårman; O Lukkarinen; P Heikkilä; K Tryggvason
Journal:  Urol Res       Date:  1999-04

5.  Glomerular endothelial cells and podocytes jointly synthesize laminin-1 and -11 chains.

Authors:  P L St John; D R Abrahamson
Journal:  Kidney Int       Date:  2001-09       Impact factor: 10.612

6.  Enalapril in paediatric patients with Alport syndrome: 2 years' experience.

Authors:  W Proesmans; H Knockaert; D Trouet
Journal:  Eur J Pediatr       Date:  2000-06       Impact factor: 3.183

7.  Quantitative trait loci influence renal disease progression in a mouse model of Alport syndrome.

Authors:  Kaya L Andrews; Jacqueline L Mudd; Cong Li; Jeffrey H Miner
Journal:  Am J Pathol       Date:  2002-02       Impact factor: 4.307

8.  Long-term effects of cyclosporine A in Alport's syndrome.

Authors:  L Callís; A Vila; M Carrera; J Nieto
Journal:  Kidney Int       Date:  1999-03       Impact factor: 10.612

9.  Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.

Authors:  J Zhou; T Mochizuki; H Smeets; C Antignac; P Laurila; A de Paepe; K Tryggvason; S T Reeders
Journal:  Science       Date:  1993-08-27       Impact factor: 47.728

10.  Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.

Authors:  M C Gubler; B Knebelmann; A Beziau; M Broyer; Y Pirson; F Haddoum; M M Kleppel; C Antignac
Journal:  Kidney Int       Date:  1995-04       Impact factor: 10.612

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  10 in total

1.  Development of kidney glomerular endothelial cells and their role in basement membrane assembly.

Authors:  Dale R Abrahamson
Journal:  Organogenesis       Date:  2009-01       Impact factor: 2.500

2.  Deletion of von Hippel-Lindau in glomerular podocytes results in glomerular basement membrane thickening, ectopic subepithelial deposition of collagen {alpha}1{alpha}2{alpha}1(IV), expression of neuroglobin, and proteinuria.

Authors:  Brooke M Steenhard; Kathryn Isom; Larysa Stroganova; Patricia L St John; Adrian Zelenchuk; Paul B Freeburg; Lawrence B Holzman; Dale R Abrahamson
Journal:  Am J Pathol       Date:  2010-06-03       Impact factor: 4.307

3.  Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.

Authors:  Konstantinos Voskarides; Maria Arsali; Yiannis Athanasiou; Avraam Elia; Alkis Pierides; Constantinos Deltas
Journal:  Pediatr Nephrol       Date:  2012-01-08       Impact factor: 3.714

Review 4.  Familial hematuria.

Authors:  Clifford E Kashtan
Journal:  Pediatr Nephrol       Date:  2007-10-02       Impact factor: 3.714

Review 5.  "Treasure your exceptions": recent advances in molecular genetics of glomerular disease.

Authors:  Andrzej Ciechanowicz; Andrzej Brodkiewicz; Agnieszka Bińczak-Kuleta; Miłosz Parczewski; Stanłisaw Czekalski
Journal:  J Appl Genet       Date:  2008       Impact factor: 3.240

Review 6.  The role of molecular genetics in diagnosing familial hematuria(s).

Authors:  Constantinos Deltas; Alkis Pierides; Konstantinos Voskarides
Journal:  Pediatr Nephrol       Date:  2011-06-19       Impact factor: 3.714

7.  A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.

Authors:  Konstantinos Voskarides; Charalambos Stefanou; Myrtani Pieri; Panayiota Demosthenous; Kyriakos Felekkis; Maria Arsali; Yiannis Athanasiou; Dimitris Xydakis; Kostas Stylianou; Eugenios Daphnis; Giorgos Goulielmos; Petros Loizou; Judith Savige; Martin Höhne; Linus A Völker; Thomas Benzing; Patrick H Maxwell; Daniel P Gale; Mathias Gorski; Carsten Böger; Barbara Kollerits; Florian Kronenberg; Bernhard Paulweber; Michalis Zavros; Alkis Pierides; Constantinos Deltas
Journal:  PLoS One       Date:  2017-03-23       Impact factor: 3.240

8.  Epistatic role of the MYH9/APOL1 region on familial hematuria genes.

Authors:  Konstantinos Voskarides; Panayiota Demosthenous; Louiza Papazachariou; Maria Arsali; Yiannis Athanasiou; Michalis Zavros; Kostas Stylianou; Dimitris Xydakis; Eugenios Daphnis; Daniel P Gale; Patrick H Maxwell; Avraam Elia; Cristian Pattaro; Alkis Pierides; Constantinos Deltas
Journal:  PLoS One       Date:  2013-03-14       Impact factor: 3.240

9.  COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Authors:  Konstantinos Voskarides; Gregory Papagregoriou; Despina Hadjipanagi; Ioanelli Petrou; Isavella Savva; Avraam Elia; Yiannis Athanasiou; Androulla Pastelli; Maria Kkolou; Michalis Hadjigavriel; Christoforos Stavrou; Alkis Pierides; Constantinos Deltas
Journal:  BMC Nephrol       Date:  2018-05-16       Impact factor: 2.388

10.  Thin basement membrane nephropathy: is there genetic predisposition to more severe disease?

Authors:  Constantinos Deltas
Journal:  Pediatr Nephrol       Date:  2008-11-19       Impact factor: 3.714

  10 in total

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