Short Summary
”CONFERENCE on CYSTINOSIS: PAST, PRESENT, and
FUTURE”, was the theme of the Conference, which was held in the Stone
House at NIH, May12,13. Chairs for the event were Drs. William Gahl, NIH,
Robert Kleta , NIH, and Frederick Kaskel, New York. The conference began with
Dr. Erik Harms, Munester, Germany presenting, the Introduction. Dr.Jerry A.
Schneider, La Jolla, California, spoke on How to Measure Cystine, followed by
Dr. William Gahl;s presentation , Cysteamine. Dr. Flemming Skovby, of
Copenhagen, Denmark, presented The Danish Experience, and Dr. Vera H. Koch, Sao
Paulo, Brazil, Cystinosis in South America.
Dr. Lisa M. Guay-Woodford,
Birmingham, Alabama, led the Renal Disease Sessions with, Differential
Diagnosis of Tubular Disorders, followed by Dr. Julie R. Ingelfinger’s
presentation Proteinuria. To Treat or Not? Drug Handling of immunesuppressants
was the topic of Dr. William E. Harmon, Boston, MA. These sessions were chaired
by Dr. Robert Kleta.
The afternoon session was chaired by Dr. Gahl, and
was composed of Renal Replacement Therapy and Non Renal Replacement
Therapy..Dr. Craig Langman educated us with his topic Indications for the Use
of Carnitine, followed by Bone Disease, Measurement, presented by Dr. Mary B.
Lenord, Philadelphia, PA.. Dr. Roslyn B. Mannon, NIH, spoke of Kidney
Transplantation at the NIH. From Stanford, Dr. Minnie Sarwal’s
presentation was Steroid-free Immunosuppression.
The Non-renal
Complications Session was begun by Dr. Ranjan Dohil, La Jolla, with his report
on his study Gastrointestinal Involvement,. Cigdem F. Dogulu , NIH spoke on
Benign Intracranial Hypertension , Neurological Involvement, was the topic of
Dr. Dloris Trauner, La Jolla, CA. Barbara C. Sonies reported on Swallowing
Studies.
Dr. Gahl, NIH, led the morning session with the topic
Biochemicall, while Dr. Robert Kleta, NIH shared with us, Genetics, What do We
Know? We heard again, from Dr. Minnie Sarwal as she spoke about Microarray
Data. Cell Biology of Cystinosis, was the topic of Amada Helip-Wooley, NIH. We
broke for lunch and returned to hear Dr. Jess Thoene”s presentation,
Apoptosis in Cystinosis. Dr. G. Luca Giusella, brought to us information
concerning Gene Therapy (kidney trophic vectors). Newborn Screening? Was
explored by Zhili Lin.
Number one priority for Dr. Gahl is getting
publications to the medical community and general public.
You will be
happy to know that the Cystinosis Foundation has been sending information to
doctors in Europe and Asia for several years. We will be cooperating with Dr.
Vera Koch who participated in the Conference. Dr. Koch is Head Pediatric
Nephrology Unit, Instituto da Crianca-Hospital das Clinicas of the Sao Paulo
Medical School. Gloria Ramos is the Foundation’s Coordinator for South
America and Mexico and she will be working with Dr. Koch . We will also ,
introduce Dr. Koch to Dr. Leticia Belmont, who is Medical Advisor for the
Cystinosis Foundation, Mexico.