Literature DB >> 23325022

How benign is hematuria? Using genetics to predict prognosis.

Daniel P Gale1.   

Abstract

Hematuria is a common presenting feature of glomerular disease and is sometimes associated with kidney failure later in life. Where isolated microscopic hematuria occurs in children and young adults, an underlying monogenic disorder, such as Alport syndrome or thin basement membrane nephropathy, is frequently responsible. In this review, these and other diseases, which often present with isolated microscopic hematuria, including hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome, IgA nephropathy, and CFHR5 nephropathy, are discussed together with the associated molecular pathology, clinical features, and prognosis. Genetic testing for these conditions used in clinical practice can provide important diagnostic and prognostic information that is relevant to the patient and their family, particularly when kidney transplantation is considered.

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Year:  2013        PMID: 23325022     DOI: 10.1007/s00467-012-2399-y

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


  73 in total

1.  Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

Authors:  D F Barker; J C Denison; C L Atkin; M C Gregory
Journal:  Am J Med Genet       Date:  2001-01-15

2.  Association of trypanolytic ApoL1 variants with kidney disease in African Americans.

Authors:  Giulio Genovese; David J Friedman; Michael D Ross; Laurence Lecordier; Pierrick Uzureau; Barry I Freedman; Donald W Bowden; Carl D Langefeld; Taras K Oleksyk; Andrea L Uscinski Knob; Andrea J Bernhardy; Pamela J Hicks; George W Nelson; Benoit Vanhollebeke; Cheryl A Winkler; Jeffrey B Kopp; Etienne Pays; Martin R Pollak
Journal:  Science       Date:  2010-07-15       Impact factor: 47.728

3.  Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.

Authors:  L C Peterson; K V Rao; J T Crosson; J G White
Journal:  Blood       Date:  1985-02       Impact factor: 22.113

Review 4.  The clinical features of thin basement membrane nephropathy.

Authors:  Martin C Gregory
Journal:  Semin Nephrol       Date:  2005-05       Impact factor: 5.299

5.  Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Authors:  Ilaria Longo; Elisa Scala; Francesca Mari; Rossella Caselli; Chiara Pescucci; Maria Antonietta Mencarelli; Caterina Speciale; Marisa Giani; Elena Bresin; Domenica Angela Caringella; Zvi-Uri Borochowitz; Komudi Siriwardena; Ingrid Winship; Alessandra Renieri; Ilaria Meloni
Journal:  Nephrol Dial Transplant       Date:  2005-12-07       Impact factor: 5.992

6.  Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.

Authors:  Cèlia Badenas; Manuel Praga; Bárbara Tazón; Laurence Heidet; Christelle Arrondel; Anna Armengol; Amado Andrés; Enrique Morales; Juan Antonio Camacho; Xose Lens; Sonia Dávila; Montse Milà; Corinne Antignac; Alejandro Darnell; Roser Torra
Journal:  J Am Soc Nephrol       Date:  2002-05       Impact factor: 10.121

7.  Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.

Authors:  Chiara Pescucci; Francesca Mari; Ilaria Longo; Paraskevi Vogiatzi; Rossella Caselli; Elisa Scala; Cataldo Abaterusso; Rosanna Gusmano; Marco Seri; Nunzia Miglietti; Elena Bresin; Alessandra Renieri
Journal:  Kidney Int       Date:  2004-05       Impact factor: 10.612

8.  The Oxford classification of IgA nephropathy: pathology definitions, correlations, and reproducibility.

Authors:  Ian S D Roberts; H Terence Cook; Stéphan Troyanov; Charles E Alpers; Alessandro Amore; Jonathan Barratt; Francois Berthoux; Stephen Bonsib; Jan A Bruijn; Daniel C Cattran; Rosanna Coppo; Vivette D'Agati; Giuseppe D'Amico; Steven Emancipator; Francesco Emma; John Feehally; Franco Ferrario; Fernando C Fervenza; Sandrine Florquin; Agnes Fogo; Colin C Geddes; Hermann-Josef Groene; Mark Haas; Andrew M Herzenberg; Prue A Hill; Ronald J Hogg; Stephen I Hsu; J Charles Jennette; Kensuke Joh; Bruce A Julian; Tetsuya Kawamura; Fernand M Lai; Lei-Shi Li; Philip K T Li; Zhi-Hong Liu; Bruce Mackinnon; Sergio Mezzano; F Paolo Schena; Yasuhiko Tomino; Patrick D Walker; Haiyan Wang; Jan J Weening; Nori Yoshikawa; Hong Zhang
Journal:  Kidney Int       Date:  2009-07-01       Impact factor: 10.612

9.  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

Review 10.  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

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  11 in total

Review 1.  Pathogenesis of glomerular haematuria.

Authors:  Claudia Yuste; Eduardo Gutierrez; Angel Manuel Sevillano; Alfonso Rubio-Navarro; Juan Manuel Amaro-Villalobos; Alberto Ortiz; Jesus Egido; Manuel Praga; Juan Antonio Moreno
Journal:  World J Nephrol       Date:  2015-05-06

2.  Raising the Volume on Alport Syndrome: A Patient Perspective.

Authors:  Megan E Dunleavy
Journal:  Kidney360       Date:  2020-03-12

3.  Haematuria increases progression of advanced proteinuric kidney disease.

Authors:  Claudia Yuste; Alfonso Rubio-Navarro; Daniel Barraca; Inés Aragoncillo; Almudena Vega; Soraya Abad; Alba Santos; Nicolás Macias; Ignacio Mahillo; Eduardo Gutiérrez; Manuel Praga; Jesús Egido; Juan Manuel López-Gómez; Juan Antonio Moreno
Journal:  PLoS One       Date:  2015-05-27       Impact factor: 3.240

4.  Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

Authors:  Louiza Papazachariou; Panayiota Demosthenous; Myrtani Pieri; Gregory Papagregoriou; Isavella Savva; Christoforos Stavrou; Michael Zavros; Yiannis Athanasiou; Kyriakos Ioannou; Charalambos Patsias; Alexia Panagides; Costas Potamitis; Kyproula Demetriou; Marios Prikis; Michael Hadjigavriel; Maria Kkolou; Panayiota Loukaidou; Androulla Pastelli; Aristos Michael; Akis Lazarou; Maria Arsali; Loukas Damianou; Ioanna Goutziamani; Andreas Soloukides; Lakis Yioukas; Avraam Elia; Ioanna Zouvani; Polycarpos Polycarpou; Alkis Pierides; Konstantinos Voskarides; Constantinos Deltas
Journal:  PLoS One       Date:  2014-12-16       Impact factor: 3.240

5.  Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.

Authors:  Yongzhen Li; Ying Wang; Qingnan He; Xiqiang Dang; Yan Cao; Xiaochuan Wu; Shuanghong Mo; Xiaoxie He; Zhuwen Yi
Journal:  Mol Med Rep       Date:  2017-11-10       Impact factor: 2.952

6.  Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century.

Authors:  Melanie My Chan; Daniel P Gale
Journal:  Clin Med (Lond)       Date:  2015-12       Impact factor: 2.659

7.  Prevalence of hypertension, obesity, hematuria and proteinuria amongst healthy adolescents living in Western Saudi Arabia.

Authors:  Kholoud A Hothan; Bashaer A Alasmari; Omniya K Alkhelaiwi; Khalid M Althagafi; Abdulaziz A Alkhaldi; Ahmed K Alfityani; Muhannad M Aladawi; Sara N Sharief; Sherif El Desoky; Jameela A Kari
Journal:  Saudi Med J       Date:  2016-10       Impact factor: 1.484

8.  A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.

Authors:  Daniel P Gale; D Deren Oygar; Fujun Lin; P Derin Oygar; Nadia Khan; Thomas M F Connor; Marta Lapsley; Patrick H Maxwell; Guy H Neild
Journal:  Nephrol Dial Transplant       Date:  2016-04-08       Impact factor: 5.992

9.  Co-existence of Alport syndrome and C3 glomerulonephritis in a proband with family history.

Authors:  Yin Ding; Xuanli Tang; Yuanyuan Du; Hongyu Chen; Dongrong Yu; Bin Zhu; Bohan Yuan
Journal:  Eur J Med Res       Date:  2021-07-08       Impact factor: 2.175

10.  Genetic testing can resolve diagnostic confusion in Alport syndrome.

Authors:  Jennifer Adam; Thomas M F Connor; Katrina Wood; David Lewis; Ramesh Naik; Daniel P Gale; John A Sayer
Journal:  Clin Kidney J       Date:  2013-12-18
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