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. DB
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.
MENU
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.
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 :
-
Alport's Syndrome, Fabry's Disease, and Nail-Patella Syndrome by
MC Gregory & CL Atkin, chapter 19 (pages 561-590) in Diseases
of the Kidney, Sixth Edition, editors RW Schrier & CW Gottschalk,
Lippincott Williams & Wilkins Publishers, 1996, ISBN 0316774561, NLM
Call No.WJ 300 D611 1996. This massive three-volume set has 3,276 pages
and costs more than US$400 from either the publisher or Amazon.com.
Ideally I would reprint here the entire Alport chapter from Volume I, but
my negotiations with the copyright-holder were fruitless.
-
Alport Syndrome by MC Gregory, CL Atkin, Chapter 19 (pages 571-591)
in Diseases
of the Kidney, Fifth Edition, editors RW Schrier & CW Gottschalk,
Little, Brown & Co., Boston, 1993, ISBN 0316775010
-
Alport Syndrome by CL Atkin, MC Gregory, WA Border, Chapter 19 (pages
617-641) in Diseases
of the Kidney, Fourth Edition, editors RW Schrier & CW Gottschalk,
Little, Brown & Co., Boston, 1988, ISBN 0316774464
-
Dr Martin C. Gregory's digest of
these chapters
-
Alport Syndrome and Thin Glomerular Basement Membrane
Disease, DISEASE OF THE MONTH and most recent review article on Alport
syndrome, by Dr Clifford E.
Kashtan, Journal of the American Society of Nephrology 9:1736-1750,
September 1998
-
Alport syndrome: is diagnosis only skin deep?, editorial by CE
Kashtan, Kidney International 55:1575-6, 1999. After tedious registration
on the publisher's Synergy service, you may obtain the full
text and reprint
in .pdf.
-
BioStratum...Glomerular
Gene Transfer Therapy™
-
Can Alport Syndrome Be Treated By Gene Therapy? by Dr
Karl Tryggvason et al., Kidney
International 51:1493-1499, 1997
-
Molecular Biology and Pathology
of Basement Membranes, K
Tryggvason's discussion of mutations of genes and of their resultant
proteins in glomerular basement membrane (GBM), and in other basement membranes,
that cause Alport syndrome. See a short version in his
home page.
-
Molecular Pathology and Genetics of Alport Syndrome, edited by K
Tryggvason, Contributions to Nephrology (Contrib. Nephrol. Basel),
Volume 117, about US$200 from S. Karger AG, Basel, 1996. ISBN 3-8055-6193-8.
NLM Call No. WJ 353 M718 1996. Unfortunately there seems to be no way to
download
individual chapters as for newer volumes. Individual chapters:
-
Alport Syndrome—Clinical Phenotypes, Incidence, and Pathology, by
MC Gregory, DA Terreros, DF Barker; PN Fain, JC Denison,
CL Atkin, pages 1-28;
-
Application of Linked Markers for Genetic Diagnosis of Alport Syndrome,
by DF Barker; CL Atkin, MC Gregory, PR Fain, pages 29-45 [again you may
try for a copy from Dr Denison];
-
Molecular Properties of the Glomerular Basement Membrane, by T
Pihlajaniemi, pages 46-79;
-
The Chains of Type IV Collagen,
by J Zhou, ST Reeders,
pages 80-104;
-
The Type IV Collagen Gene Family, by P
Heikkilä, R Soininen, pages 105-129;
-
Distribution of Type IV Collagen l, 2
and 5 Chains in Human Tissues,
by H Sariola, SL Hostikka, S Lukkarila, K
Tryggvason, pages 130-141;
-
Immunohistologic Findings in Alport Syndrome, by CE
Kashtan, MM Kleppel, M-C Gubler,
pages 142-153;
-
Mutations in Type IV Collagen Genes
and Alport Phenotypes, by K
Tryggvason, pages 154-171;
-
Mutations in Alport Syndrome Associated with Diffuse Esophageal Leiomyomatosis,
by C Antignac, L Heidet, pages
172-182;
-
New Approaches to the DNA Diagnosis of Alport Syndrome, by
A
Renieri, M De Marchi,
pages 183-197.
-
Type IV Collagen: Regulation of COL4A1 and COL4A2 Genes and Gene Therapy
of Alport Syndrome, MD thesis by Pirkko
Kortteinen (Heikkilä), Division of Matrix Biology, Department
of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm,
1999. ISBN 91-628-3490-8, Reproprint AB Stockholm.
Two Stars (),
Resources of Medium Interest:
-
Alport syndrome: from bedside to genome to bedside, review by CE
Kashtan and AF Michael, American Journal of Kidney Disease 22(5):627-640,
November 1993. See abstract.
-
Boys Town National Research Hospital offers two pages:
Hearing
Loss in Alport syndrome; and
Ears
and Kidneys: What's the Connection?
-
Databases & Searching the Medical Literature
-
Alport Syndrome Information Packet KU-67 and Search-on-File can both
be mailed to you by a subsidiary of the U.S. National
Institute of Diabetes and Digestive and Kidney Diseases (NIDDK):
National Kidney and Urologic Disease Information Clearinghouse (NKUDIC)
3 Information Way
Bethesda, MD 20892-3580
301-654-4415, fax 301-907-8906, nddic@info.niddk.nih.gov
-
CHID, the Combined
Health Information Database of the U.S. National Institutes of Health,
can be searched on line. On 12/9/98 it yielded 23 resources on Alport syndrome.
-
Internet Grateful Med
-
National Organization for Rare
Diseases (NORD), a vast database that yielded three articles on Alport
syndrome, and 107 on hereditary kidney diseases.
-
Online Mendelian Inheritance
in Man (OMIM): this is the present avatar of the immortal tome "Mendelian
Inheritance in Man" by Victor A. McKusick MD. OMIM may be searched online
for every mendelian (i.e., single-gene) trait for which you may produce
a name. Entries contain extensive genetics-oriented texts and references,
although there will be found many pearls of clinical wisdom and descriptions
of attempted treatments. Also of interest to kidney patients are further
links therein to clinical synopses. Somewhat outdated now are 29
extracts from OMIM for Alport Syndrome that I made in April 1997. Search
for "kidney disease" in January 1996 produced 220 entries.
-
PubMed/MEDLINE
search on Alport syndrome
-
PubMed
search on MeSH term Nephritis, Hereditary
-
Hereditary
Kidney Diseases, edited by A Sessa et al., Contributions to
Nephrology (Contrib. Nephrol. Basel), Volume 122, US$199.25 from S. Karger
AG, Basel, 1997. ISBN 3-8055-6551-8. Each of the following short chapters
may be downloaded (.pdf format) for a fee:
-
Alport
Syndrome: Clinical and Genetic Correlation in a Type-IV Collagen Disease,
by KO Netzer et al., pages 116-123;
-
Clinical
and Molecular Diagnosis in Inherited Kidney Diseases: Three Examples,
by J-P Grünfeld et al., pages 124-128;
-
Expression
of Alpha (IV) Chains in Alport's Syndrome and Its Correlation with Ultrastructural
and Genetic Data, by G Mazzucco et al., pages 129-131;
-
Molecular
Diagnosis of Alport Syndrome: The Experience in Siena, by A Renieri
et
al., pages 132-133;
-
X-Linked
Alports Syndrome with Normal Distribution of Collagen IV Alpha Chains in
Epidermal Basement Membrane, by I Naito et al., pages 134-139;
-
Kidney
Transplantation in Alport's Syndrome, by F Scolari et al., pages
140-142.
-
Hereditary Nephritis Foundation (HNF)
-
Scientific Publications from the "Utah" Alport
group
One star () or less, Peripheral
or Minor Interests:
-
Alport, Arthur C[ecil]. (1880-1959), brief chapter with portrait (pages
6 and 7) in book "The Man Behind the Syndrome" by Peter Beighton and Greta
Beighton, Springer-Verlag New York ISBN 0-387-16218-6, Springer-Verlag
Berlin ISBN 3-540-16218-6, 1986
-
Alport Study at the University of Utah mini-history,
a ten-minute speech
-
Alport
Syndrome page from the Pediatric Database (PEDBASE)
-
Alport Syndrome in book "Dictionary of Medical Eponyms" by BG Firkin
and JA Whitworth. The 1987 original edition has a brief chapter (pages
8 and 9) with portrait. The July 1996 second edition, also from Parthenon
Publishing Group-UK, which I have not seen, is ISBN 1850704775.
-
Hereditary Nephritis (HN), a simple discussion
-
Titles and Abstracts of Conference Presentations
from the "Utah" Alport group
-
Various minor reviews and commentaries from University of Utah:
-
Hereditary Nephropathies by MC Gregory, WA Border, CL Atkin, Chapter
118 (pages 791-793) in: WN Kelley (Ed), Textbook of Internal Medicine.
Lippincott, Philadelphia, 1989
-
Hereditary Nephropathies by MC Gregory, CL Atkin, Chapter 118 (pages
736-738) in: WN Kelley (Ed), Textbook of Internal Medicine, 2nd ed. Lippincott,
Philadelphia, 1992
-
Alport's Syndrome and Related Hereditary Nephritides by MC Gregory,
pages 143-156 in VE Andreucci, LG Fine (Eds), International Yearbook of
Nephrology, 1992
-
Alport's Syndrome and Related Disorders by MC Gregory, pages 211-212
in: A Greenberg (ed), A Primer of Nephrology, National Kidney Foundation,
1994
-
Hereditary Nephropathies by MC Gregory, CL Atkin, pages 1018-1020 (Chapter
157) in WN Kelley (Ed), Textbook of Internal Medicine, 3rd ed., Lippincott,
Philadelphia, 1997. NLM Call No. WB 115 T355 1997
-
Alport's Syndrome by MC Gregory, pages 107-108 in P O'Kane (Ed), Rapid
Access Guide to Internal Medicine, Companion to Kelley's Textbook of Internal
Medicine, Lippincott-Raven, Philadelphia, 1997
-
Alport's Syndrome and Related Disorders by MC Gregory, pages 318-323
in A Greenberg (Ed), A Primer of Nephrology, 2nd ed, National Kidney Foundation,
1997
-
What's in a name? Alport's versus Alport, a
tongue-in-cheek half-essay not to be taken too seriously
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.
Director: Martin
C. Gregory BM BCh DPhil, Diplomate American Boards of Internal Medicine
and Nephrology, Professor of Internal Medicine
Division of General Internal Medicine
University of Utah Health Sciences Center, 4B120
Salt Lake City, UT 84132
801-581-7818, fax 801-581-5393
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.
Kenneth Ward MD, Director
Lesa Nelson, Laboratory
Supervisor
Eccles Institute of Human Genetics, Room 2420
10 North 2030 East
Salt Lake City, UT 84112
801-581-8334, 801-585-6335
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.
Jeffrey R. Schelling MD
MetroHealth Medical Center
2500 MetroHealth Drive, G573
Cleveland, OH 44109
877-331-1877, fax 216-778-8248
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.
Joseph D. Schulman MD, Director
Genetics & IVF Institute
3020 Javier Road
Fairfax, VA 22031
800-552-4363, fax 703-698-0418, gifv@delphi.com
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.
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.
-
Australia
-
England
-
France
Dr. Corinne Antignac or
Dr.
Marie-Claire Gubler
Hopital Necker-Enfants Malades
INSERM U 423
Hôpital Necker Enfants Malades
149, rue de Sevres
75743 PARIS Cedex 15, France
Phone: 33 1 47 83 90 16
FAX 33 1 44 49 02 90
-
Italy
-
Dr. Alessandra Renieri
Medical Genetics, Department of Molecular Biology
Policlinico Le Scotte
Viale Bracci2, 53100 Siena, Italy
-
Dr. Mario DeMarchi
Dipartimento di Scienze Cliniche e Biologiche
Università di Torino, Torino Italy
-
Dr. Tauro M. Neri
Cattedra di Genetica Medica
Università di Parma, Parma, Italy
FAX: 39-521-292627
-
Korea
Dr. H.I. Cheong
Department of Pediatrics
Seoul National University Children's Hospital
28 Yongon-Dong, Chongru-Gu
Seoul 110-744, Korea
Tel: +82-2-7602810
FAX +82-2-7433455
-
Japan
Dr. Norishige Yoshikawa,
Professor of Health Science
Kobe University School of Medicine
Tomogaoka 7-10-2, Suma-ku
Kobe, Japan 654
Phone: +81-78-796-4515
FAX: +81-78-796-4509
-
The Netherlands
* Alport Study at University of Utah
* Basement Membrane Collagen Study:
The Immunohistology Laboratory at the University of Minnesota Hospital
and Clinic is conducting research on expression of the causative mutations
of Alport syndrome, and also offers clinical testing for expression of
various chains of Type IV collagen
in biopsy samples of kidney or skin. These assays, developed by Drs CE
Kashtan and Y Kim, employ monoclonal antibodies specific for each chain.
Absence of expression of -5 chain
in skin is diagnostic of X-linked Alport syndrome. Specific abnormalities
of expression of other chains
may, in the context of family history, clinical and pathological findings,
differentiate other types of Alport syndrome. Inquiries and shipping instructions
for specimens should be directed to:
C. E. Kashtan MD
Associate Professor of Pediatrics
University of Minnesota Medical School
Box 491 UMHC
515 Delaware St, SE
Minneapolis, MN 55455
612-624-9193, fax 612-626-2791
* DNA Diagnostic Laboratory at University
of Utah
* Oocyte donation and in vitro fertilization
* Preimplantation Genetic Analysis/Diagnosis
Yuri Verlinsky PhD, Director
Reproductive Genetics Institute
(RGI)
836 W. Wellington
Chicago, IL 60657
773-296-7095, fax 773-871-5221, rgi@flash.net
1. RGI offers services for any mendelian (i.e., single-gene)
disorder with sufficient sequence information to design PCR primers — that
is to say a family-specific mutation must be known.
2. Initial development cost varies depending upon the mutation
being analyzed. Dr Buck Strom
writes 3/15/99 that for an Alport mutation of known DNA sequence, RGI can
in about two months develop a single cell assay for preimplantation genetic
diagnosis. Required is a skin biopsy from an affected individual or heterozygote
carrier to make sure that the assay works on the single cell level.
3. Preimplantation genetic diagnosis and in vitro fertilization
are expensive.
Diagnostic Materials
-
Alport syndrome diagnostic kit from Wieslab
AB (wieslab@wieslab.se), consists
of monoclonal antibodies to 1, 3,
and 5 chains of type IV collagen.
Also of interest is a screening kit for autoantibodies against the Goodpasture
antigen.
-
Fluorochrome-conjugated monoclonal antibodies for basement membrane
studies
Other Alport Resources
Anti-GBM Nephritis & Goodpasture Syndrome
-
Anti-GBM nephritis,
UConn's Path Web Virtual Pathology Museum
-
Atlas
of Renal Pathology No. 9: Anti-GBM Antibody Mediated Glomerulonephritis,
American Journal of Kidney Disease 32(3), September 1998
-
Goodpasture's disease and Alport's syndromes, an article by A. Neil
Turner and Andrew J. Ries in Annual Review of Medicine 47:377-386, 1996.
With some messing around at the Annual
Reviews, Inc. website, there can be found uncopyable links to an abstract
of this chapter. The chapter or volume may also be ordered online.
-
Goodpasture Syndrome/Anti-GBM
Diseases. Anti-GBM disease can occur in transplanted Alport patients
because, being mutant, they recognize some normal GBM components as immunologically
foreign.
-
Goodpasture
Syndrome, one of many NIDDK
Online Publications.
-
See Wieslab.
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.
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.
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.
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
National Kidney and Urologic Disease Information Clearinghouse
(NKUDIC)
3 Information Way
Bethesda, MD 20892-3580
301-654-4415, fax 301-907-8906, nddic@info.niddk.nih.gov
The U.S. National Kidney Foundation
(NKF) provides numerous resources.
Nephron Information Center
allied with Renalworld
-
A Doctor Gets Sick, Dr
Stephen Z. Fadem, author of these much-awarded websites, writes of his
new perspectives as a patient with serious chronic disease: "I now have
a special alliance with chronically ill patients that makes me more effective
as a doctor—and I am a fighter...."
-
Peter Lundin's Corner,
Q&A and commentary by a nephrologist who is also an ESRD patient
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)
The
Gift: Kidney Transplant. See three brief silent videos from Johns Hopkins
of laparoscopic harvesting, with three small incisions, of the living-donor
kidney for the kidney transplantation described in the two preceding articles.