Alport Syndrome Home Page

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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. DB

StudyWeb Award

ANNOUNCEMENT:
Emre Ürgenç has kindly arranged the following short-cut URL for this Alport Syndrome Home Page http://alport.cjb.net


A memorial fund in honor of Dr. Atkin has been set up at the University of Utah Department of Nephrology.  The fund will sponsor lectures, research activities and a medical fellowship in the area of Alport Syndrome and other inherited kidney diseases.  A very generous donor has agreed to match up to $100,000 in donations to this fund.  To ensure that your donation is submitted to this matching program, please contact Kay Johnson of the Hereditary Nephritis Foundation or send him your check with a note indicating that you want to add your funds to those that the HNF will be submitting to the matching program.
 

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ABSTRACT: Alport syndrome, affecting about one in 5,000 persons, is hereditary glomerulonephritis that is caused by mutation of one or the other of several COL4A genes that specify  chains of basement membrane (Type IV) collagen, or by mutation of unknown genes. Especially in males, the resultant chronic nephritis progresses via uremic syndrome to end-stage renal disease treatable only by dialysis or by kidney transplantation. In various families, nephritis may be associated with various combinations of hearing loss, lenticonus and other eye disorders, immunologic abnormality of skin, disorders of platelets, abnormalities of white blood cells, or smooth muscle tumors.

KEYWORDS: Alport or Alport's syndrome, basement membranes, COL4A3, COL4A4, COL4A5 and COL4A6 genes, collagen, deafness, dialysis, end-stage renal disease (ESRD), Epstein syndrome, Fechtner inclusions, glomerulonephritis, glomerular basement membrane (GBM), granulocytes, hearing loss, hematuria, hereditary/genetic disorders, kidney disease, leiomyomatosis, lenticonus, nephritis, [the MESH heading Nephritis, Hereditary], nephrology, nephrosis, Online Mendelian Inheritance in Man (OMIM) Numbers, platelets, proteinuria, thrombocytopathia, transplantation, uremia, uremic syndrome, urinalysis. 

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About Alport Syndrome

CLA's Note: Over many years I have accumulated the literature on Alport syndrome.This fire hazard now occupies about two meters length of shelf and file-drawer space—yet I regularly receive nonprofessionals' complaints of the sparsity of information on the disease. There is indeed little information readily at hand for the layman, who if serious must do as the professionals do: make extensive use of medical library collections, their borrowing services and copy machines; purchase books, research journals, and reprints/offprints from publishers; beg reprints from authors; and become Internet-savvy. I offer the eclectic reading list below. I personally will provide no papers, but some from our University of Utah Alport Study may be obtained from Dr Joyce Denison.

THREE STARS (), Major Sources of Information :

Two Stars (), Resources of Medium Interest: One star () or less, Peripheral or Minor Interests:

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Alport Resources at the University of Utah

The Alport Syndrome - Hereditary Nephritis Study is dedicated to linkage and molecular genetic analyses of all types of Alport syndrome, and now encompasses more than 260 nominally-unrelated kindreds from around the world. Having done some of the pioneering work with mutations of COL4A5 on the X chromosome in collaboration with Dr Tryggvason's group, Dr. Barker & Co are now interested in autosomal dominant Alport syndrome and disease expression in carriers of autosomal recessive mutations. The Hereditary Kidney Disease Clinic is dedicated to clinical research and is in part supported by Huntsman (University of Utah) Clinical Research Center Protocol 73-19 that I started in 1973. The University of Utah DNA Diagnostic Laboratory performs genetic linkage studies as well as mutation testing for many different hereditary diseases including X-linked Alport syndrome. See the descriptive page DNA Testing for Alport Syndrome. Prospective clients should see the newer page DNA Diagnostic laboratory — Alport Syndrome. This is the only U.S. laboratory known to me that performs commercial testing for carrier status, presymptomatic detection, prenatal diagnosis, preimplantation and establishing linkage to the COL4A5 locus. As of 5/99, 47 families have undergone diagnostic testing, 24 by means of linkage analysis; and for 32 individuals direct mutational analysis has been performed or is in progress.

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Genetics Information and Related Resources

Alliance of Genetic Support Groups

Clinical Genetics Sites

Finding a Genetic Counselor near you

Collaborative Nephrology Database for linkage studies of primary glomerulonephritides

Directory of Genetic Support Groups

DNA Links: Information on Genetic Conditions, a wealth of useful resources

Genealogy: some sites are free roots cellars, others are root$ $eller$.

Genes that Cause Renal Failure: Dialysis patients and their relatives with diabetes, high blood pressure and/or kidney failure are sought for a study at Case Western Reserve University to identify genes that contribute to or cause renal failure. Family participants will each receive $25 for their blood sample and complete medical and family histories. GCRC
General Clinical Research Centers
The GCRC Rare Disorder Network Database deals with about 5,000 disorders, not all genetic, that each affect fewer than 200,000 Americans.

Genetic Testing for Renal Diseases: Medical and Ethical Considerations: on-line version of comprehensive article by R Marsick, C Limwongse, and E Kodisch, American Journal of Kidney Diseases 32(6):934-945, December 1998

Human Gene Mutation Registry ™Cardiff, a readily searchable database

The Future of Medicine: How genetic engineering will change us in the next century, TIME magazine special issue, January 11, 1999, volume 153 no. 1

GeneTests™, formerly Helix

Molecular medicine, The Lancet 354 (24, suppl 1):i-ii + s1-s37, July 1999. See the Forword and nine very interesting articles in their entirety online.

Mutant animals with kidney defects, database of great research interest

Oocyte donation and in vitro fertilization can achieve pregnancies in women at risk for having children with certain genetic abnormalities.

Preimplantation Genetic Analysis/Diagnosis

Should You Consider Gene Testing? by Earl Ubell, article from Parade Magazine

Understanding Gene Testing: text and color diagrams explain what genes are, how they work, and how faulty genes trigger or cause disease. Also discussed are the benefits and limitations of gene testing and the rôle of genetic counselors. Virtually identical material comprises a 30 page brochure of the same title: call 800-422-6237 for up to 20 free copies. A related resource, again with the same title, is an on-line "lecture" and color graphics about key genetic concepts.

Your Genes, Your Choices, on-line 1997 "book" by Catherine Baker, downloadable in Adobe .pdf format. It describes the Human Genome Project, the science behind it, and the ethical, legal, and social issues that are raised by the project. 

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Alport Gene Testing, Genetic Diagnoses, Reproductive Choices

Knowledge of the causative mutation in each Alport family is useful today for diagnosis, family planning, and for selection of living-related kidney donors. Such knowledge is also the prelude to eventual development of gene therapy. Thus I and others believe that every Alport family will benefit from joining an Alport genetic study. Genetic analysis involves: "direct or mutational analysis" of individuals for DNA abnormalities (mutations); or"linkage analysis" of family groups for linkage of nephritis to genetic markers; or may be inferred from particular immunologic analyses of skin biopsies. Whether free from research laboratories or from commercial labs, some genetic results must be obtained for each family before gene testing becomes feasible. Gene testing may be covered by health insurance or by various government healthcare systems. Prospective clients see introductory caveats

Alport Genetics Laboratories and Studies, by Region or Nation: Linkage analyses and mutation searches can be performed on isolated DNA and nail clippings (which are stable substances), on fresh blood, and on certain tissue blocks and cell cultures. Fresh blood is usually the preferred specimen but requires special and rapid shipping to the laboratory, so often the nearest laboratory is the best choice.  Contact the indicated person/lab for information on test availability, cost, sample and shipping preference etc.
 

Diagnostic Materials

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Other Alport Resources

Anti-GBM Nephritis & Goodpasture Syndrome BioStratum, Inc., a new biotechnology company developing treatments for diseases of basement membranes, including Alport syndrome
 
 

Fourth International Workshop on Alport Syndrome, program and follow-up announcements from the April 15-17, 1999, conference in Salt Lake City

Hearing Loss
 
 

The Hereditary Nephritis Foundation (HNF) supports education and research on Alport syndrome. Its former periodical, the HNF Newsletter, offered many timely articles, some of which may be read online.

NIDDK Online Publications are many, including these of special interest regarding Alport syndrome:
* Glomerulonephritis
* Goodpasture Syndrome
* Hematuria (Blood in the Urine)
* Medical Tests of Kidney Function

Online Support Groups:

Personal Stories of Alport Syndrome. Some of these stories contain contact information.

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Promoting/Funding Alport Research

The Hereditary Nephritis Foundation (HNF) supports education and research on Alport syndrome.

How to Financially Support the Alport Study at University of Utah

Look up and e-mail your political representatives in the U.S. Senate and House to raise their consciousness of Alport syndrome, and to stimulate research funding!

See Dr E's Letter Regarding his Mother

Send your comments on NIH plan that ignores kidney disease!

The Relation between Funding by the National Institutes of Health and the Burden of Disease, Special Article by CP Gross, FG Anderson, NR Powe, The New England Journal of Medicine 340(24):1881-7, see abstract. Related Editorial, Evaluating the Burden of Disease and Spending the Research Dollars of the National Institutes of Health, ibid., pages 1914-5. 

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Other Hereditary Kidney Diseases

NOTE: There are many hereditary kidney diseases. I have listed here only the few for which I found instructive Internet resources, plus our own recent review. For the rest, I again commend to you searches of National Organization for Rare Diseases (NORD) and Online Mendelian Inheritance in Man (OMIM) databases, and of the World Medical Literature.

Fabry Disease Home Page and Fabry Disease References. See also our recent chapter on...Fabry's Disease....

Familial Focal Segmental Glomerulosclerosis

Nail Patella Syndrome. See also our recent chapter on...Nail Patella Syndrome.

Oxalosis and Hyperoxaluria Foundation

Polycystic Kidney Research Foundation (PKRF): autosomal dominant polycystic kidney disease (ADPKD or "adult type" PKD) with incidence more than 1:1,000 is the major hereditary cause of ESRD, and that primarily in extended kindreds of adults. Less frequent autosomal recessive polycystic kidney disease/chronic hepatic fibrosis (ARPKD/CHF or "juvenile type" PKD) causes ESRD and liver disease primarily in children, brothers and sisters in nuclear families.

Wilms Tumor (Nephroblastoma) is genetically heterogeneous, and is associated with numerous other hereditary traits, abnormalities, and tumors. It may present in children as hematuria, and thus falls within the purview of (particularly pediatric) nephrologists. It is the third most common, and the premier abdominal tumor of children. 

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Resources of General Interest to Kidney Patients

American Association of Kidney Patients (AAKP), 800-749-2257

Australian Kidney Foundation

Baxter Healthcare - Kidney Disease

Channing L. Bete Co. publishes numerous booklets on kidney disease.

Dying, Death, and Bereavement Issues

For Parents and Caregivers of Children with Kidney Disease

Health Information Library—Virgil Smirnow Associates Publisher, Jo Ann Gillaspy RN BS MS, Editor, Nephrology Resource Directory, provide 13 booklets for kidney patients, also "Nephrology Resource Directory, The Green Book."

Journals and Magazines

The Kidney Café

The Kidney Foundation of Canada is also La Fondation canadienne du rein

Kidney Patient Guide

Life Options Rehabilitation Program

Message Boards, Discussion Groups, Chat, Support etc.

National Foundation for Transplants

The U.S. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) deals with all aspects of kidney disease. NIDDK Online Publications offers a large number of very informative pages. The periodical KU Notes and a Directory of Kidney and Urologic Diseases Organizations, as well as Booklets, Fact Sheets, Information Packets, Searches-on-File, and Summary Sheets for a large number of kidney and urologic disease topics may be obtained via the NKUDIC Publications List from an NIDDK subsidiary, the

The U.S. National Kidney Foundation (NKF) provides numerous resources.

Nephron Information Center allied with Renalworld

Nervous Disorders Associated with Renal Failure and with Long-Term Dialysis

Organ Donation: Information and Cards

Renal Anatomy, Nephrology, Physiology etc. in Health and Disease

Renalnet

RenalWEB

Search the World Medical Literature

Transplant Learning Center, 888-TLCENTER

TransWeb: All About Transplantation and Donation

United Network for Organ Sharing (UNOS)

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