Literature DB >> 24728446

Familial haematuria: when to consider genetic testing.

Judy Taylor1, Frances Flinter2.   

Abstract

Haematuria is a common finding in children. It is important to identify the underlying cause whenever possible so that appropriate follow-up is organised, particularly if the child is at risk of developing renal impairment or renal failure in later life. Until recently nephrologists relied on renal biopsy with examination under the electron microscope to make a diagnosis, but genetic testing can often provide an answer, together with additional information about the pattern of inheritance, which is also useful for other family members. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Entities:  

Keywords:  Deafness; Genetics; Molecular Biology; Nephrology; Ophthalmology

Mesh:

Year:  2014        PMID: 24728446     DOI: 10.1136/archdischild-2013-304827

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  4 in total

1.  Guidelines for Genetic Testing and Management of Alport Syndrome.

Authors:  Judy Savige; Beata S Lipska-Zietkiewicz; Elizabeth Watson; Jens Michael Hertz; Constantinos Deltas; Francesca Mari; Pascale Hilbert; Pavlina Plevova; Peter Byers; Agne Cerkauskaite; Martin Gregory; Rimante Cerkauskiene; Danica Galesic Ljubanovic; Francesca Becherucci; Carmela Errichiello; Laura Massella; Valeria Aiello; Rachel Lennon; Louise Hopkinson; Ania Koziell; Adrian Lungu; Hansjorg Martin Rothe; Julia Hoefele; Miriam Zacchia; Tamara Nikuseva Martic; Asheeta Gupta; Albertien van Eerde; Susie Gear; Samuela Landini; Viviana Palazzo; Laith Al-Rabadi; Kathleen Claes; Anniek Corveleyn; Evelien Van Hoof; Micheel van Geel; Maggie Williams; Emma Ashton; Hendica Belge; Elisabet Ars; Agnieszka Bierzynska; Concetta Gangemi; Alessandra Renieri; Helen Storey; Frances Flinter
Journal:  Clin J Am Soc Nephrol       Date:  2021-12-20       Impact factor: 8.237

2.  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

3.  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

Review 4.  A practical approach to the genomics of kidney disorders.

Authors:  Eleanor Hay; Thomas Cullup; Angela Barnicoat
Journal:  Pediatr Nephrol       Date:  2021-03-06       Impact factor: 3.714

  4 in total

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