Cystinosis

Cystinosis.

Cystinosis and mickey mouse.

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...

Infantile nephropathic cystinosis.

INTRODUCTION Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. OBJECTIVE To examine the prevalence and clinical characteristics of INC in paediatric patients with endstage renal disease (ESRD) in Serbia and give a recent statement of the disease. METHODS ESRD database of the Centre for Paediatric ...

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...

Cell therapy for cystinosis.

In the September 2009 issue of Blood, Syres et al. [1] report on syngeneic bone marrow cell (BMC) and haematopoietic stem cell (HSC) therapy as a successful treatment in a mouse model of cystinosis, an autosomal recessive metabolic disease caused by a defect in the transport of cystine across the lysosomal membrane. The accumulation of cystine crystals in lysosomes leads to a multi-organ dysfun...