Cystinosis is a lysosomal storage disease with accumulation of cystine within lysosomes. While primarily affecting the kidneys it may affect a range of organs. The severity of organ involvements may be reduced by early cysteamine therapy.
Extrarenal manifestations of cystinosis may include:
(1) osteopenia and rickets
(2) facial dysmorphism with abnormal dentition
(3) ocular involvement with photophobia and visual impairment
(4) male infertility and hypogonadism
(5) hypothyroidism
(6) impaired sweating
(7) benign intracranial hypertension
(8) vacuolar myopathy
(9) gastrointestinal dysmotility with reflux
(10) diabetes
(11) nodular regenerative hyperplasia of the liver
(12) arteriopathy and atherosclerosis
(13) coagulopathy (hyper or hypo)
(14) encephalopathy with cerebral atrophy and CNS calcifications
(15) exocrine pancreatic insufficiency
(16) malnutrition
(17) respiratory insufficiency from chest muscle impairment or aspiration
