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About 1,406 results

ALLMedicine™ Alport Syndrome Center

Research & Reviews  699 results

Population-based studies reveal an additive role of type IV collagen variants in hematu...
https://doi.org/10.1007/s00467-021-04934-y 10.1016/j.kint.2017.12.018 10.1046/j.1523-1755.2000.00250.x 10.1113/jphysiol.2014.274449 10.1038/ki.2014.229 10.1111/j.1523-1755.2004.00390.x 10.1053/ajkd.2002.31997 10.3109/13816811003767128 10.1038/ki.1996.459 10.1038/ki.1993.8 10.1056/NEJMra022296 10.1093/ndt/gfh435 10.1126/science.2349482 10.1172/JCI117073 10.1111/cge.12258 10.1681/ASN.2013080912 10.1111/j.1523-1755.2000.00358.x 10.1046/j.1523-1755.2002.00379.x 10.1111/j.1523-1755.2004.00560.x 10.1136/jmedgenet-2014-102822 10.1681/ASN.2009070784 10.1097/01.ASN.0000090034.71205.74 10.1093/ndt/gfp551 10.1136/jmg.29.9.663 10.1182/blood.V83.10.2899.2899 10.1038/nature24265 10.1093/hmg/3.8.1269 10.1038/ng0994-77 10.1681/ASN.2012100985 10.1007/s00467-014-2797-4 10.1093/ndt/gfi312 10.1038/ki.2011.452 10.1076/1381-6810(200012)2141-HFT217 10.1159/000368519 10.1093/hmg/ddy409 10.1681/ASN.2019030218 10.1016/j.ajhg.2018.08.004 10.1038/s41586-018-0579-z 10.1002/humu.9065 10.1093/ndt/gfv325 10.1038/ki.2014.305 10.1016/j.kint.2018.12.017 10.3389/fgene.2019.00034 10.1016/j.ajhg.2018.12.015 10.1371/journal.pone.0076360 10.1016/j.bbrc.2004.02.168
Pediatric Nephrology (Berlin, Germany); Barua M, Paterson AD

Feb 26th, 2021 - Specific variants in genes that encode the α3α4α5 chains of type IV collagen cause Alport syndrome (AS), which encompass a clinical spectrum from isolated hematuria to multisystem disease affecting sight, hearing and kidney function. The commonest...

Corneal cross-linking for treatment of progressive keratoconus in a patient with Alport...
https://doi.org/10.1177/1120672121997672
European Journal of Ophthalmology; Krolo I, Kasumović A et. al.

Feb 26th, 2021 - Ocular features of Alport syndrome include anterior lenticonus, posterior polymorphous corneal dystrophy, and fleck-and-dot retinopathy in most cases. Keratoconus in such patients has been rarely mentioned in previous studies. To our knowledge, th...

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate ...
https://doi.org/10.1159/000510695
Audiology & Neuro-otology; Bałdyga N, Sarosiak A et. al.

Dec 22nd, 2020 - Genetically determined prelingual hearing loss (HL) may occur in an isolated or syndromic form. The aim of the study was to unravel the genetic cause of medical problems in a 21-year-old woman, whose phenotypic presentation extended beyond Stickle...

Discoidin domain receptor 1 activation links extracellular matrix to podocyte lipotoxic...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750578
EBioMedicine Kim JJ, David JM et. al.

Dec 19th, 2020 - Discoidin domain receptor 1 (DDR1) is a receptor tyrosine kinase that is activated by collagens that is involved in the pathogenesis of fibrotic disorders. Interestingly, de novo production of the collagen type I (Col I) has been observed in Col4a...

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle...
https://doi.org/10.1016/j.kint.2020.10.040
Kidney International; Żurowska AM, Bielska O et. al.

Dec 14th, 2020 - Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.|2020|Żurowska AM,Bielska O,Daca-Roszak P,Jankowski M,Szczepańska M,|

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Guidelines  1 results

Clinical practice recommendations for the treatment of Alport syndrome: a statement of ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505543
Pediatric Nephrology (Berlin, Germany); Kashtan CE, Ding J et. al.

Mar 30th, 2012 - We present clinical practice recommendations for the treatment of children with Alport syndrome who are not enrolled in clinical trials. Our goal is to promote early initiation of a standard therapeutic approach that will facilitate assessment of ...

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Clinicaltrials.gov  701 results

Population-based studies reveal an additive role of type IV collagen variants in hematu...
https://doi.org/10.1007/s00467-021-04934-y 10.1016/j.kint.2017.12.018 10.1046/j.1523-1755.2000.00250.x 10.1113/jphysiol.2014.274449 10.1038/ki.2014.229 10.1111/j.1523-1755.2004.00390.x 10.1053/ajkd.2002.31997 10.3109/13816811003767128 10.1038/ki.1996.459 10.1038/ki.1993.8 10.1056/NEJMra022296 10.1093/ndt/gfh435 10.1126/science.2349482 10.1172/JCI117073 10.1111/cge.12258 10.1681/ASN.2013080912 10.1111/j.1523-1755.2000.00358.x 10.1046/j.1523-1755.2002.00379.x 10.1111/j.1523-1755.2004.00560.x 10.1136/jmedgenet-2014-102822 10.1681/ASN.2009070784 10.1097/01.ASN.0000090034.71205.74 10.1093/ndt/gfp551 10.1136/jmg.29.9.663 10.1182/blood.V83.10.2899.2899 10.1038/nature24265 10.1093/hmg/3.8.1269 10.1038/ng0994-77 10.1681/ASN.2012100985 10.1007/s00467-014-2797-4 10.1093/ndt/gfi312 10.1038/ki.2011.452 10.1076/1381-6810(200012)2141-HFT217 10.1159/000368519 10.1093/hmg/ddy409 10.1681/ASN.2019030218 10.1016/j.ajhg.2018.08.004 10.1038/s41586-018-0579-z 10.1002/humu.9065 10.1093/ndt/gfv325 10.1038/ki.2014.305 10.1016/j.kint.2018.12.017 10.3389/fgene.2019.00034 10.1016/j.ajhg.2018.12.015 10.1371/journal.pone.0076360 10.1016/j.bbrc.2004.02.168
Pediatric Nephrology (Berlin, Germany); Barua M, Paterson AD

Feb 26th, 2021 - Specific variants in genes that encode the α3α4α5 chains of type IV collagen cause Alport syndrome (AS), which encompass a clinical spectrum from isolated hematuria to multisystem disease affecting sight, hearing and kidney function. The commonest...

Corneal cross-linking for treatment of progressive keratoconus in a patient with Alport...
https://doi.org/10.1177/1120672121997672
European Journal of Ophthalmology; Krolo I, Kasumović A et. al.

Feb 26th, 2021 - Ocular features of Alport syndrome include anterior lenticonus, posterior polymorphous corneal dystrophy, and fleck-and-dot retinopathy in most cases. Keratoconus in such patients has been rarely mentioned in previous studies. To our knowledge, th...

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate ...
https://doi.org/10.1159/000510695
Audiology & Neuro-otology; Bałdyga N, Sarosiak A et. al.

Dec 22nd, 2020 - Genetically determined prelingual hearing loss (HL) may occur in an isolated or syndromic form. The aim of the study was to unravel the genetic cause of medical problems in a 21-year-old woman, whose phenotypic presentation extended beyond Stickle...

Discoidin domain receptor 1 activation links extracellular matrix to podocyte lipotoxic...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750578
EBioMedicine Kim JJ, David JM et. al.

Dec 19th, 2020 - Discoidin domain receptor 1 (DDR1) is a receptor tyrosine kinase that is activated by collagens that is involved in the pathogenesis of fibrotic disorders. Interestingly, de novo production of the collagen type I (Col I) has been observed in Col4a...

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle...
https://doi.org/10.1016/j.kint.2020.10.040
Kidney International; Żurowska AM, Bielska O et. al.

Dec 14th, 2020 - Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.|2020|Żurowska AM,Bielska O,Daca-Roszak P,Jankowski M,Szczepańska M,|

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News  5 results

Alport Syndrome Research Funding Is Awarded
https://www.mdedge.com/pediatrics/article/148143/rare-diseases/alport-syndrome-research-funding-awarded

Sep 27th, 2017 - Researchers at the University of Miami in Florida and University of Cyprus have each been awarded $100,000 to explore two drug repurposing projects to identify possible treatments for Alport syndrome. The funding was provided by the Alport Syndrom.

Marijuana and Transplants: A Catch-22 (CNN)
https://www.medpagetoday.com/transplantation/transplantation/64660

Apr 19th, 2017 - Use of medical marijuana may disqualify candidates for organ transplant, as a Maine man learned the hard way, according to CNN. Awaiting a kidney transplant in 2010, Garry Godfrey learned he had been dropped from the wait list because of his presc...

Alport Syndrome Foundation Announces Research Funding
https://www.mdedge.com/clinicianreviews/article/131705/rare-diseases/alport-syndrome-foundation-announces-research-funding

Feb 17th, 2017 - The Alport Syndrome Foundation has announced the availability of funding for research to find novel treatments to prevent kidney failure and hearing loss in all patients with Alport syndrome. Two $100,000 projects are anticipated.

Foundations Award Funding for Study of Alport Syndrome
https://www.mdedge.com/familymedicine/article/101707/foundations-award-funding-study-alport-syndrome
Cardiology News;

Aug 5th, 2015 - The Alport Syndrome Foundation (ASF), Pedersen Family Foundation, and Kidney Foundation of Canada have awarded two research grants for the study of Alport syndrome, a rare genetic kidney disease. The recipients are James Scholey, MD, of the Univer.

Research supports treatment for Alport syndrome
https://www.mdedge.com/pediatrics/article/98611/rare-diseases/research-supports-treatment-alport-syndrome

Apr 8th, 2015 - Until recently, most physicians thought of Alport syndrome as an untreatable disease. However, experiments carried out in mice with Alport syndrome showed that several different kinds of medication could slow loss of kidney function.

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