The Fourth International Workshop on Alport Syndrome

Dear Colleagues and Alport Families:

International conferences on Alport syndrome were held in 1991 in Oulu, Finland, in 1993 at Yale University, and in 1994 in Erlangen-Nürnberg, Germany. This Fourth International Workshop on Alport Syndrome was held in Salt Lake City April 15-17, 1999.

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.

Watch this webpage for developments, or email Dr Atkin to subscribe to one or both of our new emailing lists for Alport families and for Alport professionals.

Sincerely,

Martin C. Gregory, B.M., B.Ch., D.Phil.
Professor of Medicine
Department of Internal Medicine, Room 4B120
University of Utah School of Medicine
50 North Medical Drive
Salt Lake City, UT 84132, USA
Fax 801-585-9166

Thursday afternoon, April 15, Patient, Family, and Friends Day
Welcome, Martin Gregory
History of Alport studies in Utah, Curtis Atkin
Introduction to genetics of Alport syndrome, David Barker
Unraveling family histories, Joyce Denison
Molecular genetics of Alport syndrome, David Barker
Prenatal and preimplantation diagnosis, Lesa Nelson
Treatment of kidney disease in Alport syndrome, Martin Gregory
Treatment of hearing loss in Alport syndrome, Mike Page
Research and future prospects, Karl Trygvasson

Friday, April 16, Scientific Sessions

Welcome, Martin Gregory

Keynote Address, Billy G. Hudson, "Advances in Basement Membrane Collagen Chemistry"

Collagen Gene Expression, moderated by Billy G. Hudson and Clifford Kashtan

• Invited Lecture, Shinsuke Nomura, "Post Transcriptional Events in Collagenogenesis"

• Andrea Muda, "Three-dimensional Distribution of Alpha 5 (IV) Collagen Chain the Human Epidermal Basement Membrane of Normal Skin and in Alport Syndrome"

• L. Massella, "Alpha 5 (Col IV) Expression in Epidermal Basement Membrane of Females Heterozygous for Alport Syndrome and Severity of Renal Disease"

Animal Models, Spontaneous and Engineered, moderated by Judy Savige and Paul Thorner

• Invited lecture: Paul Thorner, "Animal Models of Alport Syndrome"

• Jeffrey H. Miner, "Effects of Gelatinase B and Laminin Beta 2 Null Mutations on the Progression of Alport Syndrome"

• George E. Lees, "Propagation of New Family of Dogs with X-linked Dominant Hereditary Nephritis"

• Dominic Cosgrove, "Integrin alpha-1 beta-1 Plays a Key Role in Alport Renal Disease Progression and Works through a Pathway Involving TGF beta-1"

• George E. Lees, "Interspecies Variation in Type IV Collagen Chain Composition of Glomerular Basement Membranes of Healthy Adults"

• Raghu Kalluri, "Identification of Alpha 5(IV) Collagen in the Basement Membranes of Alpha 3(V) Collagen Deficient Mice: Implications for Separate Networks of Type IV Collagen"

Genotype Phenotype Correlations, moderated by Marie-Claire Gubler and Curtis Atkin

• Invited Lecture, Marie-Claire Gubler, "Genotype-phenotype correlations. Insights from the European Alport Consortium"

• Alessandra Renieri, "Segregation Distortion in Carrier Females of X-linked Alport Syndrome"

• Martin Gregory, "COL4A5 Genotype-Phenotype Correlations in the Utah Series"

• Frances Flinter, "Somatic Mosaicism of Associated with Mild Alport Syndrome Phenotype"

• Alessandra Renieri, "Gonadal Mosaicism in Alport Syndrome"

Autosomal Inheritance of Alport Syndrome, moderated by Marie-Claire Gubler and Judy Savige

• Eileen Boye, "Structure of COL4A4 gene"

• Invited lecture. Judy Savige, "Review of Autosomal Inheritance of Alport Syndrome"

• J. Yium, "An Afro American Family with Hereditary Dominant Autosomal Dominant Renal Disease, Thin Basement Membranes and Alloantibodies to the NC1 Domain of Alpha 3 (IV) Collagen Chain"

• Judy Savige, "Clinical features of carriers of juvenile and adult-onset X-linked Alport syndrome, and of autosomal recessive Alport syndrome"

• Judy Savige, "Segregation of Hematuria in Families with of the Basement Membrane Disease with Haplotypes at the Loci for X-linked and Autosomal Recessive Alport's Syndrome"

• Judy Savige, "Absence of linkage of Fechtner syndrome to the COL4A3/COL4A4 locus"

Saturday, April 17, Scientific Sessions

Special Lecture, Karl Tryggvason, "Nephrin: A Key Component of the Glomerular Slit Membrane"

Mutation Detection, moderated by Frances Flinter and David Barker

• Paula Martin, "High Mutation Detection Rate in the COL4A5 Collagen Gene in Suspected Alport Syndrome Using PCR and Direct DNA Sequencing"

• Jens Michael Hertz, "COL4A5 Mutation Analysis of 51 Exons in 82 Families with Suspected X-linked Alport Syndrome"

• Alessandra Renieri, "Update on Mutations Found in the Italian Study of Alport Syndrome"

Contiguous Gene Syndromes, moderated by Mario De Marchi and Jing Zhou

• Invited lecture, Mario de Marchi, "Overview of Contiguous Gene Syndromes"

• Invited lecture, Jing Zhou, "Insights into the Mechanism of Alport syndrome-leiomyomatosis"

• Alessandra Renieri, "Cloning and Characterization of the Genes Responsible for AMME Contiguous Gene Syndrome Including Alport Phenotype, Mental Retardation, and Elliptocytosis"

Genetic Diagnosis of Alport Syndrome, moderated by Cornelis Schröder and Clifford Kashtan

• Invited Lecture, Cornelis Schröder, "The Clinical Spectrum of Alport Syndrome and Familial Benign Hematuria"

• Alberto Turco, "DNA-Based Diagnostics by Genetic Linkage and Genetic Counseling in Alport Syndrome. An Update of the Experience in Verona, Northern Italy"

• Lesa M. Nelson, "Molecular Diagnostic Testing for X-linked Alport Syndrome: The Utah Experience"

• Martin Gregory, "Diagnostic Traps in Genetic Diagnosis"

• Invited Lecture, Clifford Kashtan, "The Role of Immunochemistry in the Diagnosis of Alport Syndrome"

Closing Remarks, Martin Gregory

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FEATURED FACULTY

Dr. Mario de Marchi, Universitá di Torino, Italy
Dr. Frances A. Flinter, King's College, London, UK
Dr. Marie-Clair Gubler, Hôpital Necker, Paris, France
Dr. Billy G. Hudson, University of Kansas, USA
Dr. Clifford E. Kashtan, University of Minnesota, USA
Dr. Shinsuke Nomura, Kawasaki Medical School, Japan
Dr. Judy Savige, University of Melbourne, Australia
Dr. Cornelis Hendrik Schröder, University of Utrecht, Netherlands
Dr. Paul S. Thorner, University of Toronto, Canada
Dr. Karl Tryggvason, University of Oulu, Finland, and Karolinska Institutet, Sweden
Dr. Jing Zhou, Harvard University, USA

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SPONSORS

• The University of Utah School of Medicine, Department of Medicine

• Boehringer Ingelheim Pharmaceuticals, Inc.

• Merck Human Health Division

• The National Kidney Foundation of Utah

• Pratt Division of Pfizer, Inc.

• Searle

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VERSION of September 25, 1999, by: Curtis L. Atkin, and for the CME Office Rosalie Lammle, Director

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