Characterization of CTNS mutations in Arab patients with cystinosis.

Background: Cystinosis is an autosomal recessive disease characterized by impaired transport of free cystine out of lysosomes with resulting renal and ophthalmic manifestations. Mutations in CTNS, encoding cystinosin, are the only known cause of this autosomal recessive disorder with more than 85 different mutations described so far.

Purpose: To identify CTNS mutations in Arab cystinosis patients.

Long-term follow up of carbonic anhydrase II deficiency syndrome.

Objective: To describe the long term clinical, biochemical and radiological features of 35 Saudi Arabian children with carbonic anhydrase II deficiency syndrome who have been followed at King Faisal Specialist Hospital and Research Center, Riyadh since 1979.

Methods: The records of these patients were retrospectively evaluated. The diagnosis was based on the clinical and the radiological evidence of the disease.