1. Alport Syndrome - Genetics Home Reference Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney http://ghr.nlm.nih.gov/condition=alportsyndrome

About Site Map Contact Us Search A service of the Home Conditions Genes Chromosomes ... Resources Alport syndrome Related Gene(s) References Quick links to this topic MedlinePlus Health information Additional NIH Resources National Institutes of Health Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature Online Books Medical and science texts OMIM Genetic disorder catalog Genetic Conditions Alport syndrome On this page: Description Genetic changes Inheritance Treatment ... Glossary definitions Reviewed April 2009 What is Alport syndrome? Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD). People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss.

2. MEDgle - On-Demand Clinical Case Analysis For Patients And Health Professionals options split into images, definition, symptoms, related diagnoses Alport syndrome Genetics Home Reference 翻譯此頁 http://www.medgle.com.tw/rw/diagnoses/奧爾波特綜&#

3. Alport Syndrome Genetics � Alportsyndrome.org Alport Syndrome Genetics. Alport Syndrome is caused by defects in the chains of type IV collagen of the basement membranes. Type IV collagen is actually a family of six proteins, or http://www.alportsyndrome.org/what-is-alport-syndrome/alport-syndrome-genetics/

Logo How Can I Help? About Us Register ... Other Resources Search for: home contact us about us sitemap What is Alport Syndrome? Get to know Alport Connect with Others Welcome to the community Medical Resources Helpful information Donate Now Everything helps Alport Syndrome Genetics Alport Syndrome is caused by defects in the chains of type IV collagen of the basement membranes. Type IV collagen is actually a family of six proteins, or chains, that are known as alpha-1 through alpha-6. Mutations that affect the alpha-3, alpha-4, and alpha–5 chains cause Alport Syndrome. The 3 genetic forms of Alport Syndrome are: XLAS (X-linked Alport Syndrome) – The most common form that accounts for 80% to 85% of the cases and results from mutations of the alpha-5 chain type IV collagen (gene COL4A5) ARAS (autosomal recessive Alport Syndrome) – This form accounts for 10% to 15% of the cases and is caused by mutations in the alpha-3 or alpha-4 chains (genes COL4A3 or COL4A4) ADAS (autosomal dominant Alport Syndrome) – Rare form that accounts for about 5% of the cases and is caused by mutations in the alpha-3 or alpha-4 chains (genes COL4A3 or COL4A4). Mode of Inheritance XLAS – When the mother is the carrier of the mutation her chance of transmitting it to her children is 50% with each pregnancy as she has two X chromosomes, one affected and one normal. Male offspring who inherit the mutation will have the disease as they have only one X chromosome and a Y chromosome. Female offspring have two X chromosomes, so the normal X chromosome buffers the effect of the mutated X chromosome. Therefore, daughters who inherit the mutation will be carriers like their mothers. Sons who inherit the mutation will pass the disease on to all of their daughters and to none of their sons, because they will give their mutated X-chromosome to their daughters and their normal Y chromosome to their sons. In about 10% of children with XLAS, the COL4A5 mutation arises spontaneously in the child, and neither parent carries a mutation.

4. Alport Syndrome Alport Syndrome What is Alport syndrome? Alport syndrome is a genetic condition characterised by the progressive loss of kidney function and hearing. http://www.medic8.com/genetics/alport-syndrome.htm

Alport Syndrome What is Alport syndrome? Alport syndrome is a genetic condition characterised by the progressive loss of kidney function and hearing. Alport syndrome can also affect the eyes. The presence of blood in the urine (hematuria) is almost always found in this condition. Many people with Alport syndrome also exhibit high levels of protein in their urine (proteinuria). As this condition progresses, the kidneys become less able to function properly and kidney failure results. Hearing loss is a common feature of Alport syndrome, but the abnormalities in the eyes seldom lead to loss of vision. How common is Alport syndrome? The prevalence of Alport syndrome is approximately 1 in 50,000 newborns. What genes are related to Alport syndrome? Mutations in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome. Mutations in the COL4A3, COL4A4, or COL4A5 genes prevent the proper production or assembly of a specific collagen network composed of alpha3, alpha4, and alpha5 chains of type IV collagen. This network plays an important role in the kidney, specifically in structures called glomeruli. Glomeruli are clusters of specialized blood vessels that remove water and waste products from blood and create urine. When mutations prevent the formation of the type IV collagen network, the kidneys are not able to filter waste products from the blood and create urine normally. This defect allows blood and protein to pass into the urine, and leads to gradual scarring of the kidneys and kidney failure in many people with the disease.

5. Alport Syndrome - Support For Canadians Welcome to AlportSyndrome.ca. This website is intended to provide support for Alport Syndrome patients and families across Canada and help raise http://www.alportsyndrome.ca/

Home Alport Syndrome Genetics Research ... Forums AlportSyndrome.ca Welcome to AlportSyndrome.ca . This website is intended to provide support for Alport Syndrome patients and families across Canada and help raise awareness of Alport Syndrome. If you are affected by Alport Syndrome, please enroll in the Online Canadian Alport Syndrome Registry. If you or your family member has been diagnosed with Alport Syndrome, you may also want to register with the ASTOR Program at the University of Minnesota. Resources on the Web New Site Launched! Please come back soon and there will be more content available. Your feedback is appreciated, so Contact Us!

6. Kidney Diseases: MedlinePlus Genetics Home Reference Alport syndrome Genetics Home Reference Alport syndrome http//ghr.nlm.nih.gov/condition/alportsyndrome (National Library of Medicine) http://www.nlm.nih.gov/medlineplus/kidneydiseases.html

pttitle = ""; Skip navigation A service of the U.S. National Library of Medicine National Institutes of Health Home About MedlinePlus ... Contact Us Search MedlinePlus Health Topics ESPAÑOL Other Topics: A B C D ... All Topics Kidney Diseases URL of this page: http://www.nlm.nih.gov/medlineplus/kidneydiseases.html Also called: Renal disease Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom. Damage to the nephrons results in kidney disease. This damage may leave kidneys unable to remove wastes. Usually the damage occurs slowly over years. There are no obvious symptoms, so you don't know it is happening. Many things can cause kidney disease. You are at risk if you have Diabetes High blood pressure A close family member with kidney disease Your doctor can run tests to find out if you have kidney disease. If your kidneys

7. Kidney Failure: MedlinePlus Genetics Home Reference Alport syndrome Genetics Home Reference Alport syndrome http//ghr.nlm.nih.gov/condition/alportsyndrome (National Library of Medicine) http://www.nlm.nih.gov/medlineplus/kidneyfailure.html

pttitle = ""; Skip navigation A service of the U.S. National Library of Medicine National Institutes of Health Home About MedlinePlus ... Contact Us Search MedlinePlus Health Topics ESPAÑOL Other Topics: A B C D ... All Topics Kidney Failure URL of this page: http://www.nlm.nih.gov/medlineplus/kidneyfailure.html Also called: End-stage renal disease, ESRD, Renal failure Healthy kidneys clean your blood by removing excess fluid, minerals and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure. If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant . Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family and friends, most people with kidney failure can lead full and active lives. NIH: National Institute of Diabetes and Digestive and Kidney Diseases Healthy kidneys clean your blood by removing excess fluid, minerals and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure.

8. Alport Syndrome - OrganizedWisdom Health Alport syndrome is a genetic disorder characterized by glomerulonephritis, endstage kidney disease, and hearing loss. http://organizedwisdom.com/Alport_Syndrome

9. Inner Ear, Syndromic Sensorineural Hearing Loss: Differential Diagnoses & Workup Alport Syndrome. Genetics Home Reference. Available at http//ghr.nlm.nih.gov/condition=alportsyndrome. Accessed April 14, 2009. Alstrom CH. Retinal degeneration combined with http://emedicine.medscape.com/article/856116-diagnosis

10. Registry Personnel And Partners - MED - PEDS - Nephrology - Alport Syndrome Trea his involvement in the Alport Syndrome and Hereditary Nephritis Study has led to international recognition of his contributions to the understanding of Alport syndrome genetics. http://www.med.umn.edu/peds/astor/registryinfo/personnel/home.html

var g_strLanguageId = "en"; Campuses: Twin Cities Crookston Duluth Morris ... myU Search U of M Web sites What's Inside Alport Syndrome Symposium 2010 Enroll Now Registry Information For Physicians For Patients and Families Frequently Asked Questions Critical Issues ... Registry Personnel and Partners Registry Personnel and Partners Personnel Clifford E. Kashtan, M.D. ASTOR Executive Director Interim Division Director and Professor of Pediatrics Division of Pediatric Nephrology University of Minnesota (Minneapolis, MN) Dr. Clifford Kashtan is a Professor of Pediatrics at the University of Minnesota Medical School, and an attending Pediatric Nephrologist at the University of Minnesota Children's Hospital-Fairview, in Minneapolis, Minnesota. He is board certified in Pediatrics and Pediatric Nephrology. He completed his medical school training at Wayne State University in Detroit, Michigan, residency at Boston City Hospital, and pediatric nephrology fellowship at the University of Minnesota, where he has been a member of the faculty since 1987. He is a Fellow of the American Society of Nephrology and has served on the editorial boards of the Journal of the American Society of Nephrology Nephrology Dialysis Transplantation and Pediatric Nephrology . He has also served as a Councilor of the American Society of Pediatric Nephrology. Dr. Kashtan has authored numerous original research articles, reviews and book chapters on Alport syndrome. He is also the author of the Alport syndrome entries at the online resources

11. Autosomal Recessive Alport Syndrome: An In-depth C... [Nephrol Dial Transplant. Genetics Home Reference COL4A3 Gene - Genetics Home Reference; Genetics Home Reference - Alport syndrome - Genetics Home Reference; Research Materials http://www.ncbi.nlm.nih.gov/pubmed/16338941

12. NIH - Kidney Diseases (General) National Library of Medicine. Cystinuria; Genetics Home Reference Alport syndrome; Genetics Home Reference Cystinosis http://health.nih.gov/topic/KidneyDiseasesGeneral

13. Future Of Alport Syndrome � Alportsyndrome.org Alport Syndrome Genetics; Alport Syndrome Diagnosis; Alport Syndrome Treatment; Future of Alport Syndrome http://www.alportsyndrome.org/what-is-alport-syndrome/future-of-alport-syndrome/

Logo How Can I Help? About Us Register ... Other Resources Search for: home contact us about us sitemap What is Alport Syndrome? Get to know Alport Connect with Others Welcome to the community Medical Resources Helpful information Donate Now Everything helps Future of Alport Syndrome Finally, the good news is that there are excellent animal models of Alport Syndrome in mice and dogs. These models are being used in studies of the mechanisms of kidney damage in Alport Syndrome and to test potential therapies. Also some very exciting news is coming from the Department of Pediatrics at the University of Minnesota. They are developing an Alport Syndrome Treatment and Outcomes Registry (ASTOR) under the direction of Dr. Clifford E. Kashtan to facilitate clinical trials for the treatment of  Alport Syndrome. The registry will be the first of its kind in North America. Potential drug therapies that might delay or prevent the development of kidney failure exist, but need to be evaluated through clinical trials. Conducting clinical trials for proposed treatments for Alport Syndrome present many challenges. Because Alport Syndrome is not a common disease, informative clinical trials will require the collaboration of investigators at multiple centers. Lastly, emerging research focusing on stem cells gives reason to hope that medical researchers will eventually identify ways to delay and/or prevent kidney failure in people with Alport Syndrome. Please see

14. Alport Syndrome - Wikidoc Genetics, Pharmacogenomics, and Proteinomics of Alport syndrome Genetics of Alport syndrome • Pharmacogenomics of Alport syndrome • Proteomics of Alport syndrome http://www.wikidoc.org/index.php/Alport_syndrome

15. Urinary System - Stanford Health Library - Stanford Medicine Alport SyndromeGenetics Home Reference, NLM Collagen IVRelated Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy)GeneReviews http://healthlibrary.stanford.edu/resources/bodysystems/urinary_kidney.html

Stanford Health Library Search This Site Only Stanford Medical Sites Ways to Give Find a Person Alumni Lane Library ... Find a Person Urinary System Use these links to jump directly to your topic of interest in Urinary System: Diseases: Bladder Diseases Kidney Diseases Kidney Failure Ureteral Diseases ... Urinary Tract Infections Other Topics: General Urinary System Anatomy Diagnostic Procedures Dialysis ... Urination Disorders Kidney Diseases Jump to: Children With Kidney Disease Diabetic Kidney Disease General Information Infections ... Kidney Surgery Specific Kidney Diseases: Acid-Base Disorders Cancer Chronic Kidney Disease Cysts ... Vascular Kidney Disease General Information Kidney Disease Information:NIDDK Make Health a Family Affair:NIDDK [PDF] [ Order printed copy Protect Your Kidneys:NIDDK Solitary Kidney:NIDDK Newsroom (News Flashes About Kidney Disease):NKF ... Analgesic Nephropathy (Painkillers and the Kidneys):NIDDK Overviews Your Comprehensive Guide To Kidney Disease and Related Conditions:NKF Overview of Glomerular Disease:UpToDate Patient Information Renal Dysplasia and Cystic Disease:AUA Nephrology Articles (Index):eMedicine ... Kidney Diseases:MedlinePlus Children With Kidney Disease Overview of Kidney Diseases in Children:NIDDK Growth Failure in Children With Kidney Disease:NIDDK Failure to Grow in Chronic Kidney Disease:MAGIC Foundation Treatment Methods for Kidney Failure in Children:NIDDK ... Chronic Kidney Conditions:Nemours Foundation [for Teens] Nutrition and Kidney Disease Nutrition and Chronic Kidney Disease:NKF Nutrition for Children with Chronic Kidney Diease:NKF Nutrition Counter: A Reference for the Kidney Patient:AAKP Order printed copy ... Nutrition, Diet (list of articles):NKF

16. Autosomal-dominant Alport Syndrome: Natural Histor... [Kidney Int. 2004] - PubMe Genetics Home Reference COL4A4 Gene - Genetics Home Reference; Genetics Home Reference - COL4A3 Gene - Genetics Home Reference; Genetics Home Reference - Alport syndrome - Genetics http://www.ncbi.nlm.nih.gov/pubmed/15086897

17. Www.edrep.org - Inherited And Congenital Diseases Patient info on Alport syndrome; Genetics from Medpedia. The videos are excellent, but the article is good too. A primer on genetics from the Wellcome Trust's human genome pages http://www.edrep.org/pages/textbook/inheritedcongenital.php

Home Textbook Pathways Misc ... www.edrep.org Edinburgh Renal Education Pages You are here: Textbook Inherited/congenital Inherited and congenital diseases A very large polycystic kidney (left) next to a normal kidney (right) Polycystic kidney disease Polycystic kidney disease (PKD) is the commonest inherited disease causing end stage renal failure (ESRF), and accounts for up to 8% of patients on RRT programmes. The major variety is an autosomal dominant disorder (ADPKD) said to affect 80/100,000 of the population. The kidneys become slowly enlarged and contain many fluid-filled cysts. There may be hypertension, haematuria, abdominal discomfort, or no symptoms at all. Only about 50% of individuals with PKD1 mutations progress to ESRF, and those with mutations in PKD2 tend to have milder disease with less and later renal failure. Cysts may not be detectable by ultrasound until affected individuals are in their 20s or even later. There may also be hepatic cysts, and there is also an increased incidence of subarachnoid haemorrhage and some other abnormalities. Cysts may bleed and become infected, and there is an increased incidence of renal stones and UTIs. No management strategy has yet been shown to affect the rate of renal deterioration, though drug trials are commencing. Hypertension should be treated. Patients with PKD do well on dialysis and after renal transplantation, but if kidney enlargement is massive, nephrectomy is sometimes required to make space for transplantation.

18. Prevalence And Incidence Of Genetic Disease - WrongDiagnosis.com Alport Syndrome 1 per 50,000 newborns suffer from Alport syndrome, Genetics Home Reference website; Distal hereditary motor neuropathy, type V only a few cases of distal hereditary http://www.wrongdiagnosis.com/g/genetic/prevalence.htm

19. ENT Related Syndromes Alport Syndrome Genetics. Condition characterised by nephropathy (proteinuria and haematuria) and sensorineural deafness. . It is caused by mutations in genes that code for http://www.albert.uk.com/ENT syndromes.htm

ENT Related Syndromes DAVID ALBERT FRCS and FIONA CONNELL MBChB MRCPCH Definition A syndrome can be defined as a group of symptoms that collectively indicate or characterize a disease, psychological or congenital disorder. The derivation is from Introduction ENT surgeons dealing with children need to know the ENT features of a few common syndromes for example Down syndrome, Treacher Collins syndrome and Goldenhar syndrome, as they are likely to meet children with these conditions in their paediatric practice. The ENT surgeon may be presented with two distinct clinical scenarios. Firstly, a patient with a known syndrome who presents with an ENT problem. In this instance, the ENT surgeon needs to be aware of the ENT features of the syndrome so that the appropriate investigations and management can be instigated. The second and less common situation is when the ENT surgeon suspects that a child may have a syndrome which has not yet been diagnosed. This is rightly the province of the geneticist and while it is intellectually stimulating to try to piece together a syndrome it is best to avoid mentioning any suspicions at this stage. Much anxiety can otherwise result from ready access to the internet. Nevertheless they should know how to find out about these less common syndromes. This chapter provides a brief list of the more common ENT related syndromes. Referral to a geneticist is appropriate not only for children with undiagnosed conditions but also for those with the common syndromes so that genetic counselling and genetic testing can be offered both to the immediate family and also to those in the extended family. It may be surprising how many children with known genetic diagnoses who are under multiple hospital specialties, have never seen a geneticist.

20. Prevalence And Incidence Of Failure To Thrive - WrongDiagnosis.com Alport Syndrome 1 per 50,000 newborns suffer from Alport syndrome, Genetics Home Reference website; Ellisvan Creveld syndrome 1 per 60,000 - 200,000 newborns are affected by Ellis http://www.wrongdiagnosis.com/f/failure_to_thrive/prevalence.htm

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