1. Pediatric Database - Nephritis alport syndrome. DEFINITION A familial nephritis characterized by hematuria, progressive renal failure, neurosensory http://www.icondata.com/health/pedbase/files/ALPORTSY.HTM

Pediatric Database (PEDBASE) Discipline: GU Last Updated: 6/05/94 ALPORT SYNDROME DEFINITION: A familial nephritis characterized by hematuria, progressive renal failure, neurosensory hearing loss, and ocular abnormalities. EPIDEMIOLOGY: incidence: ? accounts for 3% of chronic renal failure in childhood most common of several types of hereditary nephritis age of onset: childhood risk factors: familial - autosomal dominant and x-linked variants chrom.#: Xq22 gene: type IV collagen alpha 5 chain (COL4A5) up to 20% have no family history (high spontaneous mutation rate) PATHOGENESIS: 1. Background Alport Syndrome results in a secondary glomerulopathy and tubulointerstitial dysfunction 2. Genetic Defect CLINICAL FEATURES: 1. Renal Manifestations 1. Hematuria persistent or recurrent microscopic or gross 2. Proteinuria can progress to the nephrotic level 3. Complications Nephritic Syndrome (edema, hypertension, azotemia, oliguria) Nephrotic Syndrome (edema, hypoalbuminemia, hyperlipidemia) Chronic Renal Failure (CRF) 2. Auditory Manifestations

2. Alport Syndrome Home Page Extensive data base for this disease along with message board, chat and resources.Category Health Conditions and Diseases Glomerular alport syndrome......alport syndrome Home Page. why by Curtis L. Atkin PhD, Research syndrome,urinalysis. Return to MENU. About alport syndrome. CLA's Note Over http://www.cc.utah.edu/~cla6202/ASHP.htm

Alport Syndrome Home Page why by Curtis L. Atkin PhD , Research Associate Professor of Internal Medicine and of Biochemistry, University of Utah, deceased January 23, 2000. Please send items for general discussion to either or both of two online Alport support groups with message boards and chats, the Alport Forum and the Hereditary Nephritis Foundation NC . We cannot respond regarding your personal health: see your nephrologist! Citations here of some commercial services are solely for your information, and are in no way to be construed as recommended by this site or the University of Utah. Responsibility is hereby disclaimed for any and all information, goods and services provided by others. Caveat lector! Caveat emptor! First version January, 1996; last modified by CLA December 16, 1999, last amended by D. Barker August 10, 2000. Visitors enumerated by WebCounter™ since May 9, 1999: Notes: I discovered that many links on this page had been inadvertantly altered. (Also Webcounter is frozen since July). I have tried to fix the bad links (still have not figured out Webcounter). Please inform me of any bad links that you find. Thanks.

3. Alport Syndrome alport syndrome Home Page. why by http://www.kidney.ca/alport-e.htm

Alport Syndrome Alport Syndrome (AS) is an inherited disorder of the basement membranes of the kidney, eye and ear. People who inherit defective genes for the "collagen" proteins in these basement membranes may develop progressive loss of renal function, deafness and abnormalities of the eye. In the kidneys, glomerular basement membranes normally act like filters, allowing fluid to move from blood vessels to urine while retaining protein and red blood cells within the bloodstream. Thus, one of the early signs of Alport syndrome may be leakage of small amounts of blood or protein into the urine during childhood. Collagen-containing membranes are also important for the shape of the lens of the eye and the structure of the inner ear. History In 1927, Dr. Alport wrote his classic report on a British family with the syndrome. He drew attention to the fact that affected males in this family uniformly developed progressive renal failure and deafness, whereas females were less affected. This pattern of inheritance is termed "X-linked". The normal copy of the gene onto the other X chromosome relatively protects female "carriers" who inherit an abnormal Alport gene on one X chromosome. Some females may develop renal insufficiency, but in general this occurs late in life. In contrast, every male receives one Y chromosome from his father and one X chromosome from his mother; thus, if he happens to inherit an X-chromosome bearing a mutant Alport gene, the boy is unprotected and develops the full-blown Alport Syndrome as a young adult.

4. Alport Workshop The Fourth International Workshop on alport syndrome. This Fourth InternationalWorkshop on alport syndrome was held in Salt Lake City April 1517, 1999. http://www.cc.utah.edu/~cla6202/ASIW.htm

The Fourth International Workshop on Alport Syndrome April 15-17, 1999 Salt Lake City, Utah, USA Dear Colleagues and Alport Families: The first afternoon was devoted to the first-ever session for patients and families. Conducted by six of us from University of Utah and Primary Children's Hospital, it was attended by one Australian, four Canadians, one Cypriot, two Turks, eight other Utahns, and 21 persons from ten other U.S. states. The program with hyperlinks is shown below. An audiotape of this session only is being edited and may eventually become available via the Hereditary Nephritis Foundation and/or the National Kidney Foundation of Utah The subsequent two days were devoted to scientific sessions. Programs are given below. This Workshop was attended by four of us from University of Utah and by 42 others representing at least 18 nationalities. Attendees proposed to form an International Consortium on Alport Syndrome, along the lines of the existing European Consortium. The next International Workshop on Alport Syndrome and Other Inherited Glomerular Diseases will be held in Europe in the autumn of 2001, likely in Stockholm. Tentatively, a further workshop will be held in Australia in 2004, in conjunction with the International Pediatric Nephrology Association Meetings.

5. Alport Syndrome Information about this hereditary renal disease. German site with English translation. http://www.alport.de

6. Alport Syndrome from EdREN, the website of the Renal Unit of the Royal Infirmary of Edinburgh alport syndrome is the second most common inherited cause of kidney failure. It usually affects young men, but it can affect older people and women. http://renux.dmed.ed.ac.uk/EdREN/EdRenINFObits/AlportLong.html

Alport syndrome from EdREN , the website of the Renal Unit of the Royal Infirmary of Edinburgh What happens in Alport syndrome? What trouble does Alport syndrome cause? How is it inherited? How can family members tell whether they have Alport syndrome? ... Key points Alport syndrome is the second most common inherited cause of kidney failure. It usually affects young men, but it can affect older people and women. What happens in Alport syndrome? In each of the one million tiny filtering units (glomeruli) in each kidney, blood is filtered across the glomerular basement membrane (GBM). In Alport syndrome, type IV collagen, one of the proteins that makes up the GBM, is absent or abnormal. Althought the GBM looks normal in childhood, the GBM deteriorates with time because it lacks the special type IV collagen that should be there, (see pictures). Normal Alport A very highly enlarged view of the filter in the glomerulus. These electron microscope images are magnified x100,000, and show glomerular basement membrane ( G ) in a normal glomerulus (LEFT) and in Alport syndrome (RIGHT). The diagrams below illustrate the thickening and 'falling apart' of Alport GBM.

7. EMedicine - Alport Syndrome : Article By Prasad Devarajan, MD Background alport syndrome encompasses a group of heterogeneous inherited disorders involving the basement membranes of http://www.emedicine.com/ped/topic74.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Nephrology Alport Syndrome Last Updated: January 31, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: hereditary nephritis, familial nephritis, hereditary nephritis with neurosensory deafness AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Prasad Devarajan, MD , Director of Nephrology and Hypertension, Louise M. Williams Professor of Pediatrics and Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center Prasad Devarajan, MD, is a member of the following medical societies: American Academy of Pediatrics American Heart Association American Society of Nephrology American Society of Pediatric Nephrology ... National Kidney Foundation , and Society for Pediatric Research Editor(s): Uri S Alon, MD , Director of Research and Education, Children's Mercy Hospital of Kansas City, MO; Professor, Department of Pediatrics, Division of Pediatric Nephrology, University of Missouri at Kansas City;

8. Alport Syndrome - Parents - Boys Town National Research Hospital Genetics and Deafness alport syndrome. alport syndrome (AS) is characterized by hereditary nephritis (kidney disease http://www.boystownhospital.org/parents/info/genetics/alport.asp

Genetics and Deafness - Alport Syndrome Alport Syndrome (AS) is characterized by hereditary nephritis (kidney disease known as Bright's disease in the past) and sensorineural hearing loss. The mode of inheritance may be X-linked or autosomal dominant. Less common symptoms include a defect of the lens of the eye called anterior lenticonus and a defect of blood platelets that can cause bleeding complications. AS is usually diagnosed by a test for blood and protein in the urine, hearing tests, and an extended family history. Hearing loss commonly occurs in childhood. - Most subtypes of AS include a bilateral progressive sensorineural hearing loss of mild to moderate degree, but some individuals may have a severe to profound loss. Females generally have a milder hearing loss than their male relatives if they have one at all. Management of the hearing loss includes regular audiologic follow-up, use of hearing aides, and avoidance of certain drugs and excessive noise exposure that can cause further hearing loss.

9. Health.iafrica.com | Doc Online | Ask The Doctor | Renal & Urology Alport Syndro A mother asks for and receives general information about alport syndrome. http://health.iafrica.com/doconline/qa/renal/alportsyndrome.htm

Communities: [ h o m e ] Advice Africa Afrikaans Aids Wise Business Cars Careers Cooltech Easy Money Entertainment Fun Stuff Games Highlife Men Motoring My Money News Sport Talk Travel Weather Win Women Services: Book Airtickets Chat Online Classifieds Directories Ecards Homeloans Mobile Magic myiafrica.com Property Search Shop Online Streetfinder Search Sun, 30 Mar 2003 DIET AND HEALTH DOC ONLINE allergies breast cancer ... HEALTH NEWS You are in: Doc Online Ask The Doctor ASK THE DOCTOR allergies blood diseases cancer cardiac diseases ... skin disorders Alport syndrome Question My two sons, aged eight and ten have Alport syndrome. Is there anything I can do to keep their kidney's healthy? Please may I have some general information about the disease? Answer Alport syndrome is the most common of several types of what are called hereditary nephritis. Nephritis is a non-specific term to describe inlfammation of the kidneys which can result from a number of different causes. Alport syndrome shows marked variation in the symptoms which occur, the course of the disease, the underlying problem with the cells of the kidney, and the way in which it is inherited. Those with Alport syndrome often have no symptoms, but microscopic amounts of blood are found in their urine if it is examined. They sometimes have large amounts of blood in the urine which can be seen.

10. ALPORT SYNDROME alport syndrome Because of the way alport syndrome is inherited, the diseasetends to be more severe in men than in women. What are the symptoms? http://www.kidney.org/general/atoz/content/alportsyn.html

Alport Syndrome Alport Syndrome is an inherited disease that affects the glomeruli, the tiny blood vessels within the kidneys that filter the blood of its wastes. It was first described by an English doctor, A. Cecil Alport. Because of the way Alport Syndrome is inherited, the disease tends to be more severe in men than in women. What are the symptoms? The central feature of the disease is the presence of blood in the urine. Boys with Alport Syndrome develop this symptom in infancy, while girls who carry the Alport gene may or may not have it. Another important symptom of Alport Syndrome is hearing loss. In boys with the disease, hearing loss is usually detectable by 8-10 years of age, and it may be severe enough to require the use of hearing aids. Hearing loss in girls tends to be much milder, rarely resulting in the need for hearing aids. Some boys with Alport Syndrome lose large amounts of protein in the urine, resulting in retention of fluid and body swelling. This condition is called "the nephrotic syndrome." With the passage of years, boys with Alport Syndrome develop the typical signs and symptoms of kidney failurehigh blood pressure, swelling, and in some cases, impaired growth. Some people with Alport Syndrome have an eye problem called anterior lenticonus, in which the shape of the lens becomes distorted. This can interfere with the sharpness of vision.

11. MEDLINEplus Medical Encyclopedia: Alport Syndrome alport syndrome. Causes, incidence, and risk factors Return to top.alport syndrome is very similar to hereditary nephritis. There http://www.nlm.nih.gov/medlineplus/ency/article/000504.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Alport syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Male urinary system Alternative names Return to top Hereditary nephritis; Hematuria - nephropathy - deafness; Hemorrhagic familial nephritis; Hereditary deafness and nephropathy Definition Return to top Alport syndrome is an inherited (usually X-linked) disorder involving damage to the kidney, blood in the urine , and in some families, loss of hearing . The disorder may also include eye defects Causes, incidence, and risk factors Return to top Alport syndrome is very similar to hereditary nephritis. There may be nerve deafness and congenital eye abnormalities associated with Alport syndrome. The cause is a mutation in a gene for collagen. The disorder is uncommon, and most often affects males since the genetic defect is typically found on the X chromosome. In women, the disorder is usually mild, with minimal or no symptoms. Women can transmit the gene for the disorder to their children, even if the woman has no symptoms of the disorder. In men, the symptoms are more severe and progress faster. The disorder causes chronic glomerulonephritis with destruction of the glomeruli. Initially, there are no symptoms. Progressive destruction of the glomeruli causes

12. Alport Syndrome | Ahealthyme.com A detailed look at alport syndrome and its causes, symptoms, diagnosis, treatment and prevention. http://www.ahealthyme.com/article/gale/100085025;$sessionid$5AOPE2YAAAIJ1WCYSYZS

Search AHealthyMe! Personalize AHealthyMe! Sign up for our Newsletter! Alport syndrome Turkington, Carol A. Definition A hereditary disease of the kidneys that primarily affects men, causing blood in the urine, hearing loss and eye problems. Eventually, kidney dialysis or transplant may be necessary. Description Alport syndrome affects about one in 5,000 Americans, striking men more often and severely than women. There are several varieties of the syndrome, some occurring in childhood and others not causing symptoms until men reach their 20s or 30s. All varieties of the syndrome are characterized by kidney disease that usually progresses to chronic kidney failure and by uremia (the presence of excessive amounts of urea and other waste products in the blood). Causes and symptoms Alport syndrome in most cases is caused by a defect in one or more genes located on the X chromosome. It is usually inherited from the mother, who is a normal carrier. However, in up to 20% of cases there is no family history of the disorder. In these cases, there appears to be a spontaneous genetic mutation causing Alport syndrome. Blood in the urine (hematuria) is a hallmark of Alport syndrome. Other symptoms that may appear in varying combinations include:

13. Alport Syndrome (AS, ATS) View the Full Record Syndrome, alport syndrome (AS, ATS). Synonyms, Alportsyndromelike hereditary nephritis (ASLHN, ASLN). Dickinson syndrome. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome027.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Alport syndrome (AS, ATS) Synonyms Alport syndrome-like hereditary nephritis (ASLHN, ASLN) Dickinson syndrome congenital hereditary hematuria deafness-nephritis syndrome hearing loss-nephritis syndrome hematuria-nephropathy-deafness syndrome hematuric familial nephropathy hematuric hereditary nephritis hemorrhagic familial nephritis hemorrhagic hereditary nephritis hereditary familial congenital hemorrhagic nephritis hereditary hematuria syndrome hereditary interstitial pyelonephritis hereditary nephritis hereditary nephritis-deafness syndrome hereditary nephritis-deafness-abnormal thrombogenesis syndrome Summary Major Features Head and neck: Midfacial hypoplasia and micrognathia. Eyes: Lenticonus, spherophakia, cataracts, macular or peripheral flecks, and hypertelorism Nose: Flat bridge and anteverted nares. Abdomen: Inguinal hernia, lax abdominal muscles, and diastasis recti Hand and foot: Finger abnormalities. Extremities: Joint hyperextensibility.

14. Mylifepath In depth look at alport syndrome including a definition, description, causes and symptoms, diagnosis, treatment, prognosis, prevention, key terms and further reading. http://www.mylifepath.com/article/gale/100278283;$sessionid$5IFHDOYAAIXDZWCYSYVC

15. Alport Syndrome Translate this page http://www.alport.de/page2.htm

16. EMedicine - Alport Syndrome : Article By Ramesh Saxena, MD, PhD alport syndrome In 1927, Cecil A. Alport described 3 generations of a familywith combinations of progressive hereditary nephritis and deafness. http://www.emedicine.com/med/topic110.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Nephrology Alport Syndrome Last Updated: August 14, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: AS, hereditary nephritis, deafness, hematuria, type IV collagen, end-stage renal disease, ESRD, glomerular basement membrane, GBM, tubular basement membrane, TBM, autosomal dominant Alport syndrome, ADAS, autosomal recessive Alport syndrome, ARAS, X-linked Alport syndrome, XLAS, leiomyomatosis, anterior lenticonus, dot-and-fleck retinopathy, proteinuria AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Ramesh Saxena, MD, PhD , Assistant Professor, Department of Internal Medicine, Division of Nephrology, University of Texas, Southwestern Medical Center Ramesh Saxena, MD, PhD, is a member of the following medical societies: American Medical Association American Society of Nephrology , and International Society of Nephrology Editor(s): Frank C Brosius III, MD

17. Alport Syndrome alport syndrome. alport syndrome is an inherited disease that typically causesrenal failure and deafness during early adult life (teens and twenties). http://renux.dmed.ed.ac.uk/EdREN/EdRenINFObits/AlportShort.html

18. Alport Syndrome | Ahealthyme.com alport syndrome Turkington, Carol A. Definition. alport syndrome affects aboutone in 5,000 Americans, striking men more often and severely than women. http://www.ahealthyme.com/article/gale/100085025

Search AHealthyMe! Personalize AHealthyMe! Sign up for our Newsletter! Alport syndrome Turkington, Carol A. Definition A hereditary disease of the kidneys that primarily affects men, causing blood in the urine, hearing loss and eye problems. Eventually, kidney dialysis or transplant may be necessary. Description Alport syndrome affects about one in 5,000 Americans, striking men more often and severely than women. There are several varieties of the syndrome, some occurring in childhood and others not causing symptoms until men reach their 20s or 30s. All varieties of the syndrome are characterized by kidney disease that usually progresses to chronic kidney failure and by uremia (the presence of excessive amounts of urea and other waste products in the blood). Causes and symptoms Alport syndrome in most cases is caused by a defect in one or more genes located on the X chromosome. It is usually inherited from the mother, who is a normal carrier. However, in up to 20% of cases there is no family history of the disorder. In these cases, there appears to be a spontaneous genetic mutation causing Alport syndrome. Blood in the urine (hematuria) is a hallmark of Alport syndrome. Other symptoms that may appear in varying combinations include:

19. Alport Syndrome | Ahealthyme.com You are here Home Health A to Z alport syndrome.alport syndrome. alport syndrome Turkington, Carol A. http://www.ahealthyme.com/topic/topic100586414

Search AHealthyMe! Personalize AHealthyMe! Sign up for our Newsletter! You are here: Home Health A to Z Alport Syndrome Turkington, Carol A. Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition A hereditary disease of the kidneys that primarily affects men, causing blood in the urine, hearing loss and eye problems. Eventually, kidney dialysis or transplant may be necessary. Description Alport syndrome affects about one in 5,000 Americans, striking men more often and severely than women. There are several varieties of the syndrome, some occurring in childhood and others not causing symptoms until men reach their 20s or 30s. All varieties of the syndrome are characterized by kidney disease that usually progresses to chronic kidney failure and by uremia (the presence of excessive amounts of urea and other waste products in the blood). Causes and symptoms Alport syndrome in most cases is caused by a defect in one or more genes located on the X chromosome. It is usually inherited from the mother, who is a normal carrier. However, in up to 20% of cases there is no family history of the disorder. In these cases, there appears to be a spontaneous genetic mutation causing Alport syndrome. Blood in the urine (hematuria) is a hallmark of Alport syndrome. Other symptoms that may appear in varying combinations include:

20. Urologic And Male Genital Diseases The Swedish medical university, Karolinska Institutet. A veritable goldmine of information about Category Health Men s Health Impotence Resources...... Nephritis, Hereditary (Alport's Syndrome) alport syndrome and HereditaryNephritis Home Pages CL Atkin Univ. of Utah (US); About http://www.mic.ki.se/Diseases/c12.html

search help staff Urologic and Male Genital Diseases Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases Search PubMed at NCBI/NLM Nephrology and Urology - The Family Practice Handbook, University of Iowa (US) UROLOGIC DISEASES About some Urologic Diseases - NIDDK/NIH (US) Information on Urological Conditions - eMedicine UROlog Zeijlemaker et al. ] - (NL) Renal Tract and Urology [sample chapter; Swash ] - Hutchinson's Clinical Methods Uro Anatomie Uro Lexique , et [in French] - Urologie Bicetre (FR) UroLink [in French] - Cassenne Oncologie (FR) Atlas Interactivo de Urologia RD Merino ] - Madrid (ES) Patient information about Urological Operations - East Surrey Hosp./Urology (UK) Urodynamics - LifeTech, Inc. Urinalysis in Perspective - London HSC (CA) About Urine odor test - ADAM, via MedlinePlus Urinalysis EC Klatt Brief comments on Urine color and smell T Macnair ] - BBC's Ask-the-Doc service (UK) About Colorful Urine ] - (US) On the Color of Urine - Continuum Health Partners/Beth Israel Uro Reviews - Bristol Urological Institute (UK) Family Urology [journal] Urologische Nachrichten Online [in German; registrierung notwendig] - (DE)

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