dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Pierides, Alkis M. | en |
dc.contributor.author | Voskarides, Konstantinos | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Pierides, Alkis M. | en |
dc.creator | Voskarides, Konstantinos | en |
dc.date.accessioned | 2019-11-04T12:50:28Z | |
dc.date.available | 2019-11-04T12:50:28Z | |
dc.date.issued | 2013 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53032 | |
dc.description.abstract | The familial hematuric diseases are a genetically heterogeneous group of monogenic conditions, caused by mutations in one of several genes. The major genes involved are the following: (i) the collagen IV genes COL4A3/A4/A5 that are expressed in the glomerular basement membranes (GBM) and are responsible for the most frequent forms of microscopic hematuria, namely Alport syndrome (X-linked or autosomal recessive) and thin basement membrane nephropathy (TBMN). (ii) The FN1 gene, expressed in the glomerulus and responsible for a rare form of glomerulopathy with fibronectin deposits (GFND). (iii) CFHR5 gene, a recently recognized regulator of the complement alternative pathway and mutated in a recently revisited form of inherited C3 glomerulonephritis (C3GN), characterized by isolated C3 deposits in the absence of immune complexes. A hallmark feature of all conditions is the age-dependent penetrance and a broad phenotypic heterogeneity in the sense that subsets of patients progress to added proteinuria or proteinuria and chronic renal failure that may or may not lead to end-stage kidney disease (ESKD) anywhere between the second and seventh decade of life. In addition to other excellent laboratory tools that assist the clinician in reaching the correct diagnosis, the molecular analysis emerges as the gold standard in establishing the diagnosis in many cases of doubt due to equivocal findings that complicate the differential diagnosis. Recent work led to the description of candidate genetic modifiers which confer a variable risk for progressing to chronic renal failure when co-inherited on the background of a primary glomerulopathy. Finally, more families are still waiting to be studied and more genes to be mapped and cloned that are responsible for other forms of heritable hematuric diseases. The study of such genes and their protein products will likely shed more light on the structure and function of the glomerular filtration barrier and other important glomerular components. © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. | en |
dc.source | Nephrology Dialysis Transplantation | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84890039318&doi=10.1093%2fndt%2fgft253&partnerID=40&md5=f3343089ba057343fc11a66a0fd292ad | |
dc.subject | human | en |
dc.subject | Humans | en |
dc.subject | priority journal | en |
dc.subject | review | en |
dc.subject | Biological Markers | en |
dc.subject | unclassified drug | en |
dc.subject | nonhuman | en |
dc.subject | molecular genetics | en |
dc.subject | hematuria | en |
dc.subject | kidney disease | en |
dc.subject | proteinuria | en |
dc.subject | immunoreactivity | en |
dc.subject | Complement System Proteins | en |
dc.subject | histology | en |
dc.subject | gene mutation | en |
dc.subject | Mutation | en |
dc.subject | genetic analysis | en |
dc.subject | collagen type 4 | en |
dc.subject | Fibronectins | en |
dc.subject | genetic variability | en |
dc.subject | Collagen Type IV | en |
dc.subject | fibronectin | en |
dc.subject | end stage renal disease | en |
dc.subject | complement factor H | en |
dc.subject | familial disease | en |
dc.subject | glomerulopathy | en |
dc.subject | missense mutation | en |
dc.subject | chromosome map | en |
dc.subject | Alport syndrome | en |
dc.subject | thin basement membrane nephropathy | en |
dc.subject | CFHR5 gene | en |
dc.subject | glomerulonephritis | en |
dc.subject | COL4A3 gene | en |
dc.subject | Alport-TBMN-CFHR5/C3GN-GFND | en |
dc.subject | c3 glomerulonephritis | en |
dc.subject | COL4-CFHR5-FN1 | en |
dc.subject | COL4A1 gene | en |
dc.subject | COL4A4 gene | en |
dc.subject | COL5A5 gene | en |
dc.subject | familial hematuric disease | en |
dc.subject | Familial microscopic hematuria | en |
dc.subject | FN1 gene | en |
dc.subject | Genetic and phenotypic heterogeneity | en |
dc.subject | Genetic modifiers | en |
dc.subject | glomerular filtration barrier | en |
dc.subject | glomerulopathy with fibronectin deposits | en |
dc.subject | modifier gene | en |
dc.subject | Molecular Biology | en |
dc.subject | phenotypic variation | en |
dc.subject | protein complement factor H related 5 | en |
dc.subject | X chromosome recessive inheritance | en |
dc.title | Molecular genetics of familial hematuric diseases | en |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.1093/ndt/gft253 | |
dc.description.volume | 28 | |
dc.description.startingpage | 2946 | |
dc.description.endingpage | 2960 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :27</p> | en |
dc.source.abbreviation | Nephrol.Dial.Transplant. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |