Follow Us:

social twitter box white 32 social facebook box blue 32social linkedin box blue 32YoutubeISN Blog

Monday, 11 April 2016 13:26

ISN - KDIGO: Webinar Series: Nephropathic cystinosis

Rate this item
(1 Vote)

KDIGO Logo transparentThis webinar is part of a Webinar Series organised with KDIGO.

The webinar will provide an overview of nephropathic cystinosis, information about current treatment and summarise current research and new therapeutic perspectives. 

Description of the Webinar

Cystinosis is a rare autosomal recessive presenting with renal Fanconi syndrome and progressing to end-stage renal disease during the second decade of life.  In time, and in particular if not treated appropriately with cysteamine, other symptoms develop including ocular symptoms, hypergonadotropic hypogonadism, pancreatic insufficiency, hepatomegaly, splenomegaly, muscle atrophy and weakness, oral dysfunction, pulmonary insufficiency, and various central nervous system symptoms. Treatment with cysteamine has considerably improved outcome and the live expectancy has now increased (> 30-40 yrs).

Webinar Webcast: 

This webinar was held on Friday, April 29th from 3:00PM - 4:00PM (Paris/Brussels).

Those who missed the webinar can view the webinar webcast below: 



About the Facilitator


Dr. Francesco Emma - 

Dr. Emma received has a medical degree specializing in Pediatrics from the Catholic University of Louvain, Brussels, and completed his training in Pediatric Nephrology at Boston Children's Hospital, Harvard Medical School.  Since 1998, Dr Emma moved to the Bambino Gesù Children's Hospital, IRCCS in Rome, where he currently holds the position of Director of the Department of Pediatric Subspecialties and Head of the Division of Nephrology. His research laboratory focus on the pathophysiology of nephrotic syndrome and on cystinosis, with specific interest in the development of new treatments.. 



Additional Info

  • Language: English
  • Contains Audio: Yes
  • Content Type: Webinars
  • Source: ISN
  • Year: 2016
  • Members Only: No
Read 4528 times Last modified on Tuesday, 01 November 2016 00:51

Global Operations Center

Avenue des Arts 1-2
1210 Brussels, Belgium
Tel: +32 2 808 04 20
Fax: +32 2 808 4454
Email contact


Americas Operations Center

340 North Avenue 3rd Floor
Cranford, NJ 07016-2496, United States
Tel: +1 567 248 9703
Fax: +1 908 272 7101
Email contact