149 top medical experts on Infantile Nephropathic Cystinosis across 20 countries and 5 U.S. states, including 18 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Infantile Nephropathic Cystinosis: A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:


  

        

                    


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