Abstract
Cystinosis is a very rare autosomal recessive lysosomal storage disorder with an incidence
of 1 : 150,000 – 1 : 200,000, and is caused by mutations in the CTNS gene encoding
the lysosomal membrane protein cystinosin, which transports cystine out of the lysosome
into the cytoplasm. As a result, accumulation of cystine occurs in almost all cells
and tissues, especially in the kidneys, leading to multiple organ involvement. Introduction
of drug therapy with cysteamine in the mid 1980s, along with the availability of renal
replacement therapy in childhood, have dramatically improved patient outcome. Whereas
patients used to die without therapy with end-stage renal failure during the first
decade of life, nowadays most patients live well into adulthood without renal replacement
therapy, and several reach 40 years. There is robust evidence that early initiation
and sustained lifelong therapy with cysteamine are both essential for morbidity and
mortality. The rarity of the disease
and the multi-organ involvement present an enormous challenge for those affected and
the providers of care for this patient group.
Key words
cystinosis - diagnosis - therapy - prognosis
