Abstract
In a nationwide study in Finland, 78 patients, 38 male and 40 female in 25 families, were found to have Alport's syndrome, corresponding to 1 in 53,000 live births. This frequency of clinically manifest Alport's syndrome was much lower than expected from earlier reports. This first sign of the disease was most often haematuria, but was sometimes proteinuria or hearing loss. These signs were detected at a similar median age in both boys and girls, namely 6.2 and 6.0 years, respectively. The patients were followed up over a median period of 12.1 years (range 0.1 - 34.0 years). The clinical course of the disease was more severe in the male subjects than in the female subjects: 53% of the males and 13% of the females developed terminal renal failure at median ages of 24.9 and 31.1 years, respectively. At the last observation, 34% males and 78% females were free of renal insufficiency at median ages of 10.3 and 26.8 years. Hearing loss was detected in 74% of the males and 5% of the females. Regarding the rate of deterioration of renal function, no statistically significant difference was noticed between males and females. The routine use of dialysis and transplantations has dramatically changed the life expectancy of the patients.
References
Oct 1, 1979·Clinical Genetics·P V Tishler
Feb 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·S L HostikkaK Tryggvason
Jun 8, 1990·Science·D F BarkerK Tryggvason
May 1, 1990·Acta paediatrica Scandinavica·R SorvaJ Perheentupa
Apr 1, 1989·Genomics·F A FlinterM Bobrow
Oct 29, 1988·Lancet·F A FlinterM Bobrow
Sep 1, 1988·Journal of Medical Genetics·M A Crawfurd
Jul 1, 1987·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·N GretzA J Wing
Oct 1, 1988·Kidney International·H BrunnerH H Ropers
Feb 13, 1988·Nederlands tijdschrift voor geneeskunde·C H SchröderH G Brunner
Mar 1, 1981·The American Journal of Medicine·M GublerR Habib
Aug 1, 1994·Human Molecular Genetics·H H LemminkH J Smeets
Jan 1, 1993·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·K S ChughK L Gupta
Jan 1, 1993·Kidney International·K TryggvasonT B Shows
Mar 19, 1927·British Medical Journal·A C Alport
Citations
Jul 25, 2003·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Melissa L CoxKeith E Murphy
Dec 15, 2011·European Journal of Human Genetics : EJHG·Jens Michael HertzFrances Flinter
Dec 21, 2007·Nature Clinical Practice. Nephrology·Marie Claire Gubler
Aug 2, 2000·Child: Care, Health and Development·H Pajari, J Sinkkonen
May 18, 2000·Clinical Otolaryngology and Allied Sciences·D E BamiouT Sirimanna
Sep 6, 2000·Kidney International·M Levy, J Feingold
Sep 21, 2013·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Constantinos DeltasKonstantinos Voskarides
Nov 13, 2014·European Journal of Human Genetics : EJHG·Jens Michael HertzFrances Flinter
Dec 17, 2009·Human Pathology·Jan JedlickaStephan Segerer
May 23, 2015·American Journal of Audiology·Danielle Mercer
Nov 30, 2011·International Ophthalmology Clinics·Robert J Courtney, Mark E Pennesi
Aug 20, 2020·Molecular Genetics & Genomic Medicine·Ole Magnus Bjorgaas HelleJens Michael Hertz
Nov 24, 2019·General Thoracic and Cardiovascular Surgery·Junya AoyamaShigeki Yamaguchi
Jan 5, 2021·Clinical Kidney Journal·Andreas MatthaiouConstantinos Deltas
Apr 16, 2021·European Journal of Human Genetics : EJHG·Judy SavigeBeata S Lipska-Ziętkiewicz
Sep 30, 2003·Journal of the American Society of Nephrology : JASN·Jean Philippe JaisMarie Claire Gubler
Aug 18, 2021·Journal of the American Society of Nephrology : JASN·Joel GibsonUNKNOWN Genomics England Research Consortium