BACKGROUND Cystinosis is a rare inborn error of cystine transport, leading to accumulation of cystine in the lysosomes. To diagnose cystinosis and monitor treatment with cysteamine, adequate measurements of cystine concentrations in leukocytes and cultured fibroblasts are required. METHODS Cells were sonicated in the presence of excess N-ethylmaleimide to prevent oxidation of cysteine to cyst...

et al. Chapter 13: demography and management of childhood established renal failure in the UK.centre study of a low-protein diet on the progression of chronic re-nal failure in children. A scoring system to predict renal outcome in IgA nephropathy: a nationwide 10-year prospective cohort study. What could the knockout mouse and Mickey Mouse possibly have in common? They appear as polar opposite...

Eight children with cystinosis (3 with renal transplants, 2 on maintenance haemodialysis, 2 with chronic renal failure, and one with normal renal function) were studied for evidence of hypothyroidism, and compared with a control group of children with chronic renal failure due to other causes. Abnormal thyroid function was present in all the cystinotic patients: thyroxine (T4) low in 1, free th...

Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalaemia), increased blood pH (alkalosis) and normal to low blood pressure. There are three types of Bartter syndrome: neonatal, the classic type and Gitelman syndrome. Nephropathic cystinosis is an autosomal recessive disorder characterized by accumulat...

To overcome the major disadvantages of cysteamine, the only registered treatment for the rare genetic disease cystinosis, nine prodrugs of γ-glutamyl-cysteamine (4) were synthesized for evaluation. Esterification of the thiol conferred oxidative stability, while sufficient lipophilicity for oral bioavailability was achieved by acylation of the α-carboxyl group of γ-glutamyl-cysteamine (4). Low ...

Six members of a sibship originally consisting of 8 offspring lived to teenage. Five of these developed the adolescent form of cystinosis. Since adolescent cystinosis is autosomal recessive, such a high incidence of affected members is of uncommon occurrence. Depending on whether the sibship size (n) is known as 6 to 8, it should occur only in approximately 1.5% or 5.8% of sibships of correspon...