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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Infantile nephropathic cystinosis?
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Advocacy Organizations
Cystinosis Research Network
The Cystinosis Research Network is an all-volunteer, non-profit organization dedicated to supporting and advocating research, providing family assistance and educating the public and medical communities about cystinosis.
Clinical Trials
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