Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019

Journal of Nephrology
Ivana CapuanoAntonio Pisani


Fabry disease (FD) is a rare X-linked genetic disorder of glycosphingolipid catabolism caused by mutations in the GLA gene. Its heterogeneous presentation, the paucity of specific early markers, and the absence of a genotype-phenotype correlation are associated with a delayed or missed diagnosis. The true prevalence of FD remains so far unknown. A systematic search of FD screening studies in dialysis patients published from January 1995 until January 2019 was performed to reanalyze the prevalence of GLA mutations in this population after assigning their correct phenotype. Twenty five screening studies involving 39,621 dialysis patients were included. Of them, 116 [91 males (0.23%) and 25 females (0.06%)] were positive to the GLA sequencing analysis. 56 (48.2%) had benign variant, 52 (44.8%) a pathogenic GLA mutation (39 classic and 13 late onset mutations) and 8 (6.9%) a mutation of uncertain significance. The overall prevalence of GLA variants was 0.24% [CI 95%, 0.17-0.32] while the overall prevalence recalculated on basis of only pathogenetic mutations was 0.14% [CI 95%, 0.08-0.20]. This difference was significant (P = 0.048). Although the real prevalence of classic FD is low, the screening in the high-risk renal population r...Continue Reading


Aug 3, 1995·The New England Journal of Medicine·S NakaoHitoshi Sakuraba
Jul 4, 2001·Clinica Chimica Acta; International Journal of Clinical Chemistry·N A ChamolesD Gaggioli
Aug 15, 2002·Molecular Genetics and Metabolism·Junaid ShabbeerRobert J Desnick
Aug 5, 2003·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·G E LinthorstEls W Boeschoten
Sep 6, 2003·BMJ : British Medical Journal·Julian P T HigginsDouglas G Altman
Apr 22, 2004·Journal of the American Society of Nephrology : JASN·Peter KotankoGere Sunder-Plassmann
Sep 29, 2005·Clinical and Experimental Nephrology·Mayuri IchinoseY Eto
Sep 7, 2007·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Wim TerrynGert De Schoenmakere
Nov 16, 2007·Clinical Journal of the American Society of Nephrology : CJASN·Jason AndradeSandra Sirrs
Oct 18, 2008·Renal Failure·Daiana Benck PorschElvino José Guardão Barros
Oct 29, 2008·Transplant International : Official Journal of the European Society for Organ Transplantation·Julia KleinertGere Sunder-Plassmann
Mar 19, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Björn OqvistDavid G Warnock
Oct 3, 2009·Journal of Medical Genetics·G E LinthorstC E M Hollak
Oct 22, 2009·American Journal of Nephrology·Hideki FujiiMasafumi Fukagawa
May 27, 2011·Clinical Nephrology·E F WallinN R Pritchard
Nov 30, 2012·Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy·Sema Kalkan UçarMahmut Çoker
Jan 12, 2013·Clinical Journal of the American Society of Nephrology : CJASN·Hiroki MaruyamaSatoshi Ishii
Dec 25, 2013·Clinical Nephrology·Julio Herrera, Clara Sa Miranda
Mar 22, 2014·Clinical Genetics·Antonio PisaniEleonora Riccio
Mar 27, 2015·European Journal of Nuclear Medicine and Molecular Imaging·Carmela NappiAlberto Cuocolo
Sep 1, 2016·Nephron·Cassiano Augusto Braga SilvaConstança Margarida Sampaio Cruz
Sep 23, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Elfrida R BenjaminDavid J Lockhart
Apr 4, 2017·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Antonio PisaniEleonora Riccio
Nov 5, 2017·Trends in Cardiovascular Medicine·Ting-Rong Hsu, Dau-Ming Niu
Dec 19, 2017·Kidney & Blood Pressure Research·Luciana Senra de Souza SodréNatália Maria da Silva Fernandes
Mar 14, 2018·Molecular Genetics and Metabolism·Alberto OrtizWilliam R Wilcox
Apr 25, 2018·Transplantation·Sara ErsözlüAlbina Nowak
Aug 8, 2018·European Heart Journal Cardiovascular Imaging·Roberta EspositoAntonio Pisani
Aug 14, 2018·Kidney & Blood Pressure Research·Carmela ZizzoGiovanni Duro
Nov 6, 2018·Insights Into Imaging·Sirio CocozzaArturo Brunetti
Nov 23, 2018·Nephron·Eleonora Riccioon behalf of AFFIINITY Group


Jul 2, 2020·Therapeutics and Clinical Risk Management·Irfan VardarliFrank Weidemann
Jul 15, 2020·International Urology and Nephrology·K Turkmen, I Baloglu
Aug 11, 2020·International Journal of Clinical Practice·Tim M ReynoldsPATHFINDER Project Collaboration group
Feb 4, 2021·Clinical Epigenetics·Teodolinda Di RisiLorenzo Chiariotti

Related Concepts

Fabry Disease
Biological Markers
Dialysis Procedure
Hereditary Diseases
Population Group
GLA gene
Screening Generic

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