alport-syndrome
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Alport syndrome

Alport syndrome

Last Reviewed : 12/24/2020
Alport syndrome

Alport syndrome/ hematuria-nephropathy deafness/ hemorrhagic familial nephritis/ hereditary deafness and nephropathy/ hereditary nephritis/ hereditary nephritis with sensory deafness:

Alport syndrome is a genetic disorder affecting around 1 in 50,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect sight, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses. Alport syndrome is caused by an inherited defect in type IV collagen—a structural material that is needed for the normal function of different parts of the body. Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body

We researched this topic for you and found the following best online resources. They are categorized into basic, advanced, and research level based on the extent of information you need. You will be taken to the respective websites by pressing on the links below.

Basic information:

http://patient.info/doctor/alports-syndrome patient. alport's syndrome

http://www.dovemed.com/diseases-conditions/alport-syndrome/ dovemed. alport syndrome

https://online.epocrates.com/diseases/86021/alport-syndrome/definition epocrates. alport syndrome

http://www.amjmed.com/article/0002-9343(81)90571-4/abstract the american journal of medicine.alport’s syndrome by m. gubler et al. doi: http://dx.doi.org/10.1016/0002-9343(81)90571-4

https://reatapharma.com/product-pipeline/rare-diseases/alport-syndrome/ reata pharmaceuticals. alport syndrome

https://nephcure.org/search/alport+syndrome nephcure kidney international. alport syndrome

https://www.kidneyresearchuk.org/health-information/alports-syndrome kidney research united kingdom. alport syndrome

http://rarerenal.org/patient-information/alport-syndrome/ rare renal. alport syndrome – patient information

 

Advanced information:

http://emedicine.medscape.com/article/238260-overview medscape. alport syndrome by ramesh saxena

http://rarerenal.org/clinician-information/alport-syndrome/ rare renal. alport syndrome – clinician information

https://rarediseases.org/rare-diseases/alport-syndrome/ alport syndrome .

http://www.medicinenet.com/alport_syndrome/article.htm medicine net. alport syndrome

http://www.archivesofpathology.org/doi/full/10.1043/1543-2165-133.2.224?code=coap-site archives of pathology and laboratory medicine. alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis by mark haas. february 2009, vol. 133, no. 2, pp. 224-232.

http://www.sciencedirect.com/science/article/pii/s0953443100000424 science direct. alport syndrome: a review by patricia a mccarthy et al. http://dx.doi.org/10.1016/s0953-4431(00)00042-4

http://www.renalandurologynews.com/nephrology-hypertension/genetic-diseases-alport-syndrome-and-thin-basement-membrane/article/615918/ renal and urology news. genetic diseases: alport syndrome and thin basement membrane by godela brosnahan

http://onlinelibrary.wiley.com/doi/10.1113/jphysiol.2014.274449/full the journal of physiology. alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment by judy savige. j physiol, 592: 4013–4023. doi:10.1113/jphysiol.2014.274449

http://www.ajronline.org/doi/abs/10.2214/ajr.121.3.539 american journal of roentgenology. angiographic features of alport’s syndrome hereditary nephritis by vincent p. chuang et al. citation: american journal of roentgenology. 1974;121: 539-543. 10.2214/ajr.121.3.539

http://www.sjkdt.org/article.asp?issn=1319-2442;year=2009;volume=20;issue=6;spage=1087;epage=1089;aulast=onisaudi journal of kidney diseases and transplantation. alport's syndromeby alexander osaretin oni et al. saudi j kidney dis transpl 2009;20:1087-9

 

Research:

https://f1000research.com/articles/6-50/v1 f1000research. alport syndrome: facts and opinions [version 1; referees: 2 approved] by clifford kashtan. f1000research 2017, 6(f1000 faculty rev):50 doi: 10.12688/f1000research.9636.1

http://www.ijo.in/article.asp?issn=0301-4738;year=1994;volume=42;issue=4;spage=211;epage=212;aulast=jayaprasad indian journal of ophthalmology. alport's syndrome : a case reportby b jayaprasad et al. year : 1994 | volume: 42 | issue number: 4 | page: 211-212

http://jasn.asnjournals.org/content/11/4/649.full journal of american society of nephrology. x-linked alport syndromenatural history in 195 families and genotype- phenotype correlations in males by jean philippe jais et al. jasn april 1, 2000 vol. 11 no. 4 649-657

http://www.ajkd.org/article/s0272-6386(13)90024-x/fulltext american journal of national kidney foundation. alport's syndrome by agnes fogo. doi: http://dx.doi.org/10.1053/s0272-6386(13)90024-x

https://academic.oup.com/ndt/article/29/suppl_4/iv124/1907228/alport-syndrome-from-bench-to-bedside-thenephrology dialysis transplantation. alport syndrome from bench to bedside: the potential of current treatment beyond raas blockade and the horizon of future therapies by oliver gross et al. nephrol dial transplant (2014) 29 (suppl_4): iv124-iv130. doi: https://doi.org/10.1093/ndt/gfu028

http://iovs.arvojournals.org/article.aspx?articleid=2165349 investigative ophthalmology and visual science. retinal basement membrane abnormalities and the retinopathy of alport syndrome by judy savige et al. investigative ophthalmology & visual science march 2010, vol.51, 1621-1627. doi:10.1167/iovs.08-3323

http://www.ias.ac.in/article/fulltext/jgen/093/03/0855-0858 indian acaddemy of scciences. alport syndrome in a kazakh family: a case study by elena v. zholdybayeva et al. j. genet. 93, 855–858

https://doaj.org/article/505327b78b044919ade5266f57f913bb directory of open acess journals. analysis of histopathological pattern of kidney biopsy specimens in kuwait: a single-center, five-year prospective study by emad abdallah et al. saudi journal of kidney diseases and transplantation. 2015;26(6):1223-1231 doi 10.4103/1319-2442.168646

https://doaj.org/article/54566f80f630467cbab69cee2870ffc8 directory of open acess journals. the accumulation of vegfa in the glomerular basement membrane and its relationship with podocyte injury and proteinuria in alport syndrome. byhaiyan wang et al. plos one. 2015;10(8):e0135648 doi 10.1371/journal.pone.0135648

https://doaj.org/article/77bb12782c4b462ab2328ee13dd79917 directory of open acess journals. negative staining for col4a5 correlates with worse prognosis and more severe ultrastructural alterations in males with alport syndromeby samar m. said et al. kidney international reports. 2017;2(1):44-52 doi 10.1016/j.ekir.2016.09.056

 

Related topics:

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s1678-77572009000600016 scielo. alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation by hilal uslu toygar et al. j. appl. oral sci. vol.17 no.6 bauru nov.dec. 2009. http://dx.doi.org/10.1590/s1678-77572009000600016

http://jasn.asnjournals.org/content/24/3/364.full journal of the american society of nephrology. expert guidelines for the management of alport syndrome and thin basement membrane nephropathy by judy savige et al. doi: 10.1681/asn.2012020148. jasn march 2013 vol. 24 no. 3 364-375

https://www.hindawi.com/journals/crim/2013/374020/ hindawi. alport's syndrome in pregnancy by suchita mehta et al. case reports in medicine volume 2013 (2013), article id 374020, 3 pages http://dx.doi.org/10.1155/2013/374020

https://www.omicsonline.org/autosomal-dominant-alport-syndrome-presenting-as-proteinuria-at-marine-corps-physical-fitness-test-a-case-report-and-review-2161-0959.s8-001.php?aid=6282 journal of nephrology and therapeutics. autosomal dominant alport syndrome presenting as proteinuria at marine corps physical fitness test: a case report and review by wisit cheungpasitporn et al. j nephrol therapeut s8:001. doi:10.4172/2161-0959.s8-001

http://www.mjmsr.net/article.asp?issn=0975-9727;year=2015;volume=6;issue=1;spage=89;epage=91;aulast=rajamuller journal of medical sciences and research. ocular manifestation of the alport syndrome: a case report by ayyakutty muni raja et al. year : 2015 | volume : 6 | issue : 1 | page : 89-91

http://bmcnephrol.biomedcentral.com/articles/10.1186/1471-2369-3-2 bio med central. angiotensin converting enzyme inhibitor therapy in children with alport syndrome: effect on urinary albumin, tgf-ß, and nitrite excretion by liora adler et al. bmc nephrology20023:2 doi: 10.1186/1471-2369-3-2

https://www.omicsgroup.org/journals/intractable-headaches-in-a-patient-with-alport-syndrome-with-no-evidence-of-brain-lesionsa-case-report-2167-0846-1000278.php?aid=83592 journal ofpain and relief. intractable headaches in a patient with alport syndrome with no evidence of brain lesions-a case report by mitchell stotland et al. j pain relief 6: 278. doi:10.4172/2167-0846.1000278

http://www.onlinecjc.ca/article/s0828-282x(14)01121-0/fulltext canadian journal of cardiology. heart disease and alport syndrome: merging insight with compassion by c. roberts. doi: http://dx.doi.org/10.1016/j.cjca.2014.07.643

http://www.aaojournal.org/article/s0161-6420(91)32152-3/abstract american journal of opthalmology. posterior polymorphous dystrophy and alport syndrome by chaiwat teekhasaenee et al. doi: http://dx.doi.org/10.1016/s0161-6420(91)32152-3

https://doaj.org/article/110e19ee66834558b50a92409c3c2b21 directory of open acess journals. collagen iv in normal skin and in pathological processes by ana maria abreu-velezet al. north american journal of medical sciences. 2012;4(1):1-8 doi 10.4103/1947-2714.92892

 

Other articles:

https://ghr.nlm.nih.gov/condition/alport-syndrome national institute of health. alport syndrome.

http://jasn.asnjournals.org/content/24/3/364.full journal of american society of nephrology. expert guidelines for the management of alport syndrome and thin basement membrane nephropathy

http://holistic-kidney.com/ holistic kidney. holistic kidney – home

https://doaj.org/article/1ca332cd852549f5b330f4d42cedf44b directory of open acess journals. ophthalmic examination for diagnosis of alport syndrome by shrikant deshpande. medical journal of dr. d.y. patil university. 2015;8(5):682-683 doi 10.4103/0975-2870.164950

https://doaj.org/article/20b62dc15eb64975b7bc5b82b2c63747 alport's syndrome: a family study alport's syndrome: a family study by fernando antônio de macedo leal et al. brazilian archives of ophthalmology . 2000; 63 (6): 455-458 doi 101590 / s0004-27492000000600005

https://doaj.org/article/24090b8f0ba245f092860debed0f32e2 directory of open acess journals. cataract in a patient with the alport syndrome and diffuse leiomyomatosis catarata em paciente com sindrome de alport e leiomiomatose difusa by luis santiago – cabán et al. revista brasileira de oftalmologia. 2008;67(6):309-312 doi 10.1590/s0034-72802008000600008

https://doaj.org/article/24764744ed5c47e1ae7ce5908b9ebb15 directory of open acess journals. alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation by hilal uslu toygar et al. journal of applied oral science. 2009;17(6):623-629 doi 10.1590/s1678-77572009000600016

https://doaj.org/article/2c87dc45d8ff4d71b2f4806126135415 directory of open acess journals. encapsulating peritoneal sclerosis in a patient with alport's syndrome on long-term peritoneal dialysis by zerrin bicik bahcebasi et al. saudi journal of kidney diseases and transplantation. 2014;25(2):419-422 doi 10.4103/1319-2442.128607

https://doaj.org/article/37830fbba982442293164f35a98d5580 directory of open acess journals. contribution of glomerular morphometry to the diagnosis of pediatric nephropathies by mariana barreto marini et al. saudi journal of kidney diseases and transplantation. 2016;27(3):493-499 doi 10.4103/1319-2442.182382

https://doaj.org/article/3da93afb4b644abfab6a1d432f01833d directory of open acess journals. ocular, ear and renal manifestations of alport syndrome in three iranian families by mohammad hossein davari et al. zahedan journal of research in medical sciences. 2014;16(11):59-59

 

Other useful information:

https://rarediseases.org/ national organizationfor rare disorders.

http://alportsyndrome.org/ alport syndrome foundation.

https://www.kidney.org/ national kidney foundation.

https://www.kidneyresearchuk.org/ kidney research. united kingdom.

http://rarerenal.org/ rare renal.

http://alportstudy.com/ athena.

https://www.kidney.ca/page.aspx?pid=183 kidney foundation on canada.

http://unckidneycenter.org/ unc kidney centre.

https://nephcure.org/ nephcure kidney international.

https://astor.ahc.umn.edu/ alport syndrome treatments and outcomes registry.

http://www.alportuk.org/ alport. united kingdom.

http://www.alportsyndrome.ca/ alport syndrome. canada.

 

Related vedios/ presentations:

https://www.youtube.com/watch?v=1h8xc6drmbs youtube. minute lectures: alport syndrome

https://www.youtube.com/watch?v=3xk9xqfntka youtube. about alport syndrome

https://www.youtube.com/watch?v=b8bw3glbwds youtube. alport syndrome

https://www.youtube.com/watch?v=rwuodxqnttc youtube. alport syndrome.

https://www.slideshare.net/dkatpar/alports-syndrome-pp slideshare. alports syndrome pp

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