Table 1.

Demographic and clinical features of the patients with cystinosis

General FeaturesValue
No. of patients136
Boys, n (%)/girls, n (%)75 (55)/61 (45)
Age at diagnosis, median (IQR), yr1.5 (1.0–4.5)
Age at last follow-up visit, mean±SD, yr11±7
Patients with consanguineous parents, n (%)106 (78)
 First-degree consanguinity71 (67)
 Second degree and other consanguinity35 (33)
Clinical findings at diagnosis, n (%)
 Growth retardation115 (85)
 Polyuria100 (74)
 Loss of appetite99 (73)
 Polydipsia98 (72)
 Fatigue83 (61)
 Vomiting68 (50)
 Photophobia23 (17)
 Tetany16 (12)
Patients genetically tested, n (%)98 (72)
 Homozygous CTNS mutation, n88
 Compound heterozygous CTNS mutation, n10
  • IQR, interquartile range; CTNS, cystinosis gene.