Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal
membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the
diagnosis and management of patients with this rare disease over the past few
years and reports recurrent mutations in the CTNS gene. Methods:
Unrelated patients from different pediatric and adult hospitals all over
Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired
proximal reabsorption of amino acids, glycosuria and hypophosphatemia,
suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocytecystine levels were
determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS, followed by direct sequencing of
the coding exons of CTNS. Results: From 1998 to 2017,twenty-onecystinotic patients were
biochemically diagnosed. From the remaining
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