Metabolism of Pantethine in Cystinosis

Effect of Pantethine on Ovarian Tumor Progression and Choline Metabolism

Epithelial ovarian cancer remains the leading cause of death from gynecologic malignancy among women in developed countries. New therapeutic strategies evaluated with relevant preclinical models are urgently needed to improve survival rates. Here, we have assessed the effect of pantethine on tumor growth and metabolism using magnetic resonance imaging and high-resolution proton magnetic resonan...

Cystinosis.

Renal transplantation outcome in children with cystinosis

Background and Objective: Cystinosis is a rare inherited disease that leads to renal failure. Fanconi syndrome is the major renal involvement in cystinosis patients. Renal transplantation is the treatment of choice in cystinosis children with end-stage renal disease (ESRD).  The study aimed to assess the outcome of renal transplantation in Iranian children with cystinosis. Methods: This...

Bone Complications of Cystinosis.

Cystinosis is recognized as a systemic disease because of mutations in the gene encoding cystinosin, the lysosomal cystine exporter. In the nephropathic form that affects infants and young children, the kidney Fanconi syndrome leads to metabolic acidosis, hypophosphatemia attributable to phosphaturia, and reduced synthesis of the active metabolite of vitamin D, 1,25-dihydroxyvitamin D3, also kn...

Hypothyroidism in children with cystinosis.

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...