81. ALPORT SYNDROME alport syndrome An inherited disorder (sex linked autosomal dominant) involving damage to the kidneys, hematuria, and hearing loss. http://www.medhelp.org/glossary2/new/GLS_0252.HTM

ALPORT SYNDROME - An inherited disorder (sex linked autosomal dominant ) involving damage to the kidneys hematuria , and hearing loss. In some individuals vision may also be affected. This genetic disease is uncommon affecting 2 out of 100,000 people. Symptoms include loss of hearing, abnormal color to urine, swelling, cough, and decline in vision. Med Help International Library Search Ask the Doctor Forums The medical glossary has been made possible by a generous donation from:

82. AskDocTrish.com -- Alport Syndrome In alport syndrome, there is a genetic birth defect which causes a key My boyfriend has alport syndrome but his mother does not have the gene for it. http://www.askdoctrish.com/alport.html

Alport Syndrome Doc Trish's Newsletters Home Ask Doc Trish See The Answers ... Link To Us Be notified when this page changes it's private powered by ChangeDetection We subscribe to the HONcode principles of the Health On the Net Foundation Thank you for visiting! I am glad you are here. Don't forget to bookmark this page! This website is for sale! Return to Table of Contents My father died of Alport Syndrome several years ago. I was told I would have no problems with the disease, but my sister is a carrier of it, and any male children she would have could be at risk. I've been able to find very little on the disease, and what I have found is pretty technical. What is the disease and how does it affect those who have it? If you look at a piece of the body's tissue from just about any area of the body under a microscope, you will see something called a basement membrane, which is sort of like "glue" that holds different body tissues together. In Alport syndrome, there is a genetic birth defect which causes a key ingredient to be missing in the basement membranes of the kidney, the ear and the eye. So the "glue" starts coming apart, so to speak. This leads to kidney failure, deafness, and eye problems at an early age (20-30 years old). For some reason, men have worse symptoms than women do.

83. Matrix Metalloproteinase Dysregulation In The Stria Vascularis Of Mice With Alpo alport syndrome results from mutations in genes encoding collagen {alpha} 3(IV) Earlier studies of a gene knockout mouse model for alport syndrome noted http://ajp.amjpathol.org/cgi/content/abstract/166/5/1465

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS This Article Full Text Full Text (PDF) Purchase Article ... View Shopping Cart Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Gratton, M. A. Articles by Cosgrove, D. American Journal of Pathology. American Society for Investigative Pathology Matrix Metalloproteinase Dysregulation in the Stria Vascularis of Mice with Alport Syndrome Implications for Capillary Basement Membrane Pathology Michael Anne Gratton Velidi H. Rao Daniel T. Meehan Charles Askew and Dominic Cosgrove From the Department of Otolaryngology, Head and Neck Surgery, University of Pennsylvania, Philadelphia, Pennsylvania; and the National Usher Syndrome Center, Boys Town National Research Hospital, Omaha Nebraska Alport syndrome results from mutations in genes encoding collagen 3(IV), 4(IV), or 5(IV) and is characterized by progressive glomerular disease associated with a high-frequency sensorineural hearing loss. Earlier studies of a gene knockout mouse model for Alport

84. Am J Pathol -- Sign In Page alport syndrome results from mutations in genes encoding collagen {alpha} 3(IV), alport syndrome is a relatively common (1 in 5000) heritable basement http://ajp.amjpathol.org/cgi/content/full/166/5/1465

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH This item requires a subscription to American Journal of Pathology Online. Full Text Matrix Metalloproteinase Dysregulation in the Stria Vascularis of Mice with Alport... Gratton et al. Am J Pathol. This Article Abstract Full Text (PDF) Purchase Article ... View Shopping Cart Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Gratton, M. A. Articles by Cosgrove, D. To view this item, select one of the options below: ASIP Member Sign In ASIP Members, please sign in at ASIP to access the journal online. Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Sign Up Subscribe to the Journal - Subscribe to the print and/or online journal. HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH

85. Birth Disorder Information Directory - A Alport DeafnessNephropathy. See alport syndrome. alport syndrome (Alport Deafness-Nephropathy, Deafness/Hearing Loss-Nephritis Syndrome, http://www.bdid.com/defectag.htm

HOME Ag-Am Aganglionosis Total Intestinal Aganglionosis total intestinal AGANGLIONOSIS, TOTAL INTESTINAL Aganthia with Holoprosencephaly and Situs Inversus Aganthia holoprosencephaly situs inversus AGNATHIA-HOLOPROSENCEPHALY Agammaglobulinemia List of Sites Agenesis of the Cerebellar Vermis List of Sites Agenesis of the Corpus Callosum List of Sites Related Books Aglossia Adactylia (Oromandibular Limb Hypoplasia) Aglossia adactylia AGLOSSIA-ADACTYLIA Also see Hanhart Syndrome Agnathia -Holoprosencephaly See Holoprosencephaly-Agnathia Agyria-Pachygyria Type I See Miller-Dieker (Lissencephaly) Syndrome Aicardi Syndrome List of Sites Aicardi-Goutieres Syndrome (Encephalopathy-Basal Ganglia Calcification) Aicardi-Goutieres syndrome Encephalopathy, Familial Infantile, with Calcification of Basal Ganglia and Chronic Cerebrospinal Fluid Lymphocytosis Related Books Cutis verticis gyrata thyroid aplasia mental retardation ... CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION Aksu Stockhausen Syndrome (Branchial Arch Defects) branchial arch defects Al-Awadi Farag Teebi Syndrome (Primary Hypogonadism with Partial Alopecia) Al awadi farag teebi syndrome HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA

86. Alport Syndrome (Alport Deafness-Nephropathy, [Deafness/Hearing Loss]-Nephritis alport syndrome, AUTOSOMAL DOMINANT. Autosomal Recessive. alport syndrome, AUTOSOMAL RECESSIVE. XLinked. alport syndrome, X-LINKED; ATS http://www.bdid.com/alport.htm

HOME Alport Syndrome (Alport Deafness-Nephropathy, [Deafness/Hearing Loss]-Nephritis Syndrome, Dickinson Syndrome) Alport Syndrome Home Page ALPORT SYNDROME Le syndrome d'Alport Alport syndrome (AS, ATS) ... SINDROME DI ALPORT Autosomal Dominant ALPORT SYNDROME, AUTOSOMAL DOMINANT Autosomal Recessive ALPORT SYNDROME, AUTOSOMAL RECESSIVE X-Linked ALPORT SYNDROME, X-LINKED; ATS HOME

87. Arquivos Brasileiros De Oftalmologia - Alport Syndrome: Report Of A Case Of Tota Deletions in the COL 4A5 collagen gene in X-linked alport syndrome. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492001000500016

88. Karger Publishers Molecular Pathology and Genetics of alport syndrome. Editor(s) Tryggvason, K. (Oulu). Molecular Pathology and Genetics of alport syndrome http://content.karger.com/ProdukteDB/produkte.asp?Aktion=showproducts&ProduktNr=

89. Alport Syndrome And Mental Retardation: Clinical And Genetic Dissection Of The C X linked alport syndrome (ATS, OMIM 301050) is a hereditary Identification of a second family with alport syndrome and mental retardation. http://jmg.bmjjournals.com/cgi/content/full/39/5/359

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Meloni, I Articles by Renieri, A Related Collections Genetics Journal of Medical Genetics Journal of Medical Genetics LETTER TO JMG Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) I Meloni F Vitelli L Pucci R B Lowry R Tonlorenzi E Rossi M Ventura G Rizzoni C E Kashtan B Pober and A Renieri Department of Medical Genetics, University of Siena, Italy Department of Paediatrics, University of Siena, Italy Department of Medical Genetics, Alberta Children's Hospital, Calgary, Canada

90. Alport Syndrome And Mental Retardation: Clinical And Genetic Dissection Of The C Keywords alport syndrome; mental retardation; Xq22.3 X linked alport syndrome (ATS, OMIM 301050) is a hereditary glomerulonephritis resulting from http://dx.doi.org/10.1136/jmg.39.5.359

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Meloni, I Articles by Renieri, A Related Collections Genetics Journal of Medical Genetics LETTER TO JMG Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) I Meloni F Vitelli L Pucci R B Lowry R Tonlorenzi E Rossi M Ventura G Rizzoni C E Kashtan B Pober and A Renieri Department of Medical Genetics, University of Siena, Italy Department of Paediatrics, University of Siena, Italy Department of Medical Genetics, Alberta Children's Hospital, Calgary, Canada TIGEM, Milan, Italy

91. Syndrome D'Alport Les informations d'Orphanet   propos de cette maladie rare. Signes de la maladie, associations de patients, projets de recherche. http://orphanet.infobiogen.fr/Site/data/OC_Pat_data.php?Asb=Pat&PatId=630&am

92. [Nephrohus] G©n©tique, physiopathologie, manifestations cliniques, diagnostic et traitement de cette maladie, n©phropathie glom©rulaire h©r©ditaire progressive. http://www.nephrohus.org/uz/article.php3?id_article=144

93. Alport's Syndrome (www.whonamedit.com) alport s syndrome A very rare hereditary syndrome characteriszed by progressive renal failure, nerve deafness and abnormities of the lense of the eye. http://www.whonamedit.com/synd.cfm/337.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Alport's syndrome Also known as: Dickinson's hereditary deafness nephropathy Dickinson’s syndrome Synonyms: Congenital hereditary hematuria, hematuria nephropathy-deafness syndrome, hematuric familial nephropathy, hematuric hereditary nephritis, hemorrhagic familial nephritis, hereditäres Nephropathie-Taubheits-Syndrom (German), hereditary familial congenital hemorrhagic nephritis, hereditary nephritis, hereditary nephritis-deafness syndrome, hereditary nephropathy-deafness syndrome, néphropathie héréditaire avec surdité (French), Nephropathie mit Innenohrschwerhörigkeit (German), progressive hereditary nephritis. Associated persons: Arthur Cecil Alport William Howship Dickinson Description: The main characteristics of this very rare hereditary syndrome are progressive renal failure, nerve deafness and abnormities of the lense of the eye. Male/female relationship 1:1. Men are earlier and more severely affected than women. It is thought to be due to an autosomal inherited defect of the glomerular basement membrane of the kidneys. Death usually occurs before middle age.

94. THE MERCK MANUAL--SECOND HOME EDITION, Alport's Syndrome In Ch. 146, Tubular And alport s syndrome (hereditary nephritis) is a hereditary disorder in which kidney alport s syndrome is usually caused by a defective gene on the X http://www.merck.com/mmhe/sec11/ch146/ch146n.html

var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Kidney and Urinary Tract Disorders Chapter Tubular and Cystic Kidney Disorders Topics Introduction Alport's Syndrome Bartter's Syndrome Cystinuria Fanconi's Syndrome Hartnup Disease ... Renal Tubular Acidosis Alport's Syndrome Buy The Book Print This Topic Email This Topic Pronunciations cystinuria diabetes insipidus dialysis medulla ... thrombocytopenia Alport's syndrome (hereditary nephritis) is a hereditary disorder in which kidney function is poor, blood is present in the urine, and deafness and eye abnormalities sometimes occur. Alport's syndrome can affect organs other than the kidneys. Hearing problems, usually an inability to hear sounds in the higher frequencies, are common. Cataracts can also occur, although less often than hearing loss. Abnormalities of the cornea, lens, or retina sometimes cause blindness. Other problems include a low number of platelets in the blood (thrombocytopenia) and abnormalities that affect several nerves (polyneuropathy).

95. BBC - Health - Ask The Doctor - Alport's Syndrome Dr Trisha Macnair looks at the symptoms of alport s syndrome. http://www.bbc.co.uk/health/ask_the_doctor/alportssyndrome.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index THURSDAY 8th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Alport's syndrome I'm trying to find out some information about Alport's syndrome. What is it? And is it curable? Gillian Dr Trisha Macnair responds Alport's syndrome is a rare inherited problem which has a combination of effects. Most commonly the kidneys are affected, with nephritis (inflammation) and the gradual development of kidney failure. But hearing may also be affected, with what's known as nerve deafness. (That is, it's the nerves which detect hearing that are to blame rather than structures in the ear or brain.) Very rarely there may also be problems with the platelets in the blood, which are tiny cells that normally control the 'stickiness' and clotting of blood. It's much more common in boys Because it's inherited, several people in one family may have the same problem. Alport's is unusual because it's one of the few problems thought to be carried on the X chromosome (the 'female' chromosome). Girls are protected to a degree because they carry two X chromosomes and so may have a normal copy of the gene as well as the faulty one. However, boys carry one X and one Y chromosome, and so those who carry a faulty gene have no normal X to protect them. This is why men develop Alport's syndrome more often than women.

96. UK NKF - Alports Syndrome. alport s syndrome is an inherited kidney disease (it runs in families). alport s syndrome is named after Dr A. Cecil alport, who recognised families http://www.kidney.org.uk/Medical-Info/alports/

Alport's Syndrome What is Alport's Syndrome? Why it is called Alport's Syndrome? What Causes Alport's Syndrome? How is Alport's Syndrome diagnosed? Is Alport's Syndrome common? Is there any treatment to prevent kidney failure? What about ear and eye damage - is this serious? Does everyone with Alport's Syndrome develop kidney failure? Can people with Alport's Syndrome have dialysis or a kidney transplant? Should members of the family have tests to look for Alport's syndrome? What is Alport's Syndrome? Alport's syndrome is an inherited kidney disease (it runs in families). Men are more severely affected than women, and people can develop deafness as well as kidney failure. Why it is called Alport's Syndrome? Alport's syndrome is named after Dr A. Cecil Alport, who recognised families with the syndrome in 1927. He was born in 1880 in South Africa, and graduated as a doctor in Edinburgh. At first he worked in Johannesburg (owning a small gold mine). After the First World War he moved to St Mary's Hospital, Paddington, London, where he was working when he described the syndrome of hereditary renal failure and deafness. Later he worked in Cairo, and died in 1959. What Causes Alport's Syndrome, and differences between men and women?

97. Nephritis, Hereditary - Alport's Syndrome - Information Page With HONselect Hereditary disease characterized initially by hematuria and slowly progressing t http://www.hon.ch/HONselect/RareDiseases/EN/C12.740.700.742.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Nephritis, Hereditary": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Nephritis, Hereditary Definition: Hereditary disease characterized initially by hematuria and slowly progressing to renal insufficiency. It is sometimes associated with perceptual deafness and/or congenital ocular defects. Synonym(s): Alport's Syndrome / Nephritis, Familial / Alport Syndrome / Alports Syndrome / Browse New search Web resources for "Nephritis, Hereditary" English French German = Site with HON description - = Site with a robot description info: enter the site: (click below) domain of the site: HONcode - eMedicine - Alport Syndrome : Article by Prasad Devarajan, MD www.emedicine.com Alport Syndrome Home Page www.cc.utah.edu ... ghr.nlm.nih.gov HONcode - NORD - National Organization for Rare Disorders, Inc.

98. Syndrome D'Alport : Sites Et Documents Francophones syndrome d ; alport type dominant, Arborescence(s) du thesaurus MeSH contenant le mot-clé syndrome d alport http://www.chu-rouen.fr/ssf/pathol/alportsyndrome.html

Syndrome d'Alport Définition [MeSH Scope Note ; traduction CISMeF] : Maladie héréditaire caractérisée, dans un premier temps, par une hématurie qui va évoluer progressivement vers une insuffisance rénale. Elle est parfois associée à une une surdité de perception et/ou à des troubles oculaires congénitaux. Synonyme(s) CISMeF Alport lié à l'X, syndrome d' ; Alport type dominant, syndrome d' ; Alport type récessif, syndrome d' ; Surdité-néphropathie, type Alport ; alport, syndrome . Synonyme(s) MeSH Néphrite hématurique familiale avec surdité ; Néphropathie familiale avec surdité Arborescence(s) syndrome d'Alport nephritis, hereditary maladies de l'appareil génital féminin et complications de la grossesse maladies et malformations congénitales, héréditaires et néonatales maladies urologiques et de l'appareil génital mâle Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : Qualificatifs : diagnostic guide ressources Alport, syndrome d'

99. NEJM -- Alport's Syndrome, Goodpasture's Syndrome, And Type IV Collagen Review Article from The New England Journal of Medicine alport s syndrome, Goodpasture s syndrome, and Type IV Collagen. http://content.nejm.org/cgi/content/extract/348/25/2543

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 348:2543-2556 June 19, 2003 Number 25 Next Alport's Syndrome, Goodpasture's Syndrome, and Type IV Collagen Billy G. Hudson, Ph.D., Karl Tryggvason, M.D., Ph.D., Munirathinam Sundaramoorthy, Ph.D., and Eric G. Neilson, M.D. Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text PDF PDA Full Text Add to Personal Archive ... PubMed Citation Basement membranes form a complex surface on which epithelial cells reside. These membranes provide morphogenic cues that determine the fate of cells, the polarization of subcellular constituents, and the location of cell receptors and transporters. Basement membranes are assembled through an interweaving of type IV collagen (collagen IV) with laminins, nidogen, and sulfated proteoglycans. Collagen IV belongs to a family of collagenous proteins that has at least 25 distinct members. The and genes Full Text of this Article Structure and Distribution of Type IV Collagen Alport's Syndrome Genetics Pathogenesis Clinical Presentation Findings on Kidney Biopsy Treatment Goodpasture's Syndrome Genetics Pathogenesis Clinical Presentation Findings on Kidney Biopsy Treatment Summary This article has been cited by other articles: J. Biol. Chem.

100. Alport's Syndrome - OhioHealth alport s syndrome is an inherited disorder characterized by damage to the kidneys. It primarily affects males. http://www.ohiohealth.com/healthreference/reference/4A3DD137-3D98-498E-82EC44D73

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