Cystinosis: from gene to disease

Invited Comment Cystinosis: from gene to disease

Lysosomes are intracellular sacs of enzymes that are responsible for the digestion of macromolecules. The products of the hydrolytic digestion process then leave the lysosome via specific transporters in its membrane, to be either reused by the cell or excreted outwards. The general consensus about cystinosis has been that it is an inherited multi-systemic disease resulting from failure of lyso...

Cystinosis.

Huntington's disease: from gene to potential therapy

Huntington's disease (HD) is a progressive, late-onset neurodegenerative illness with autosomal dominant inheritance that affects one in 10 000 individuals in Western Europe. The disease is caused by a polyglutamine repeat expansion located in the N-terminal region of the huntingtin protein. The mutation is likely to act by a gain of function, but the molecular mechanisms by which it leads to n...

Introduction to "Extra-Renal Complications of Cystinosis".

Cystinosis is one of the earliest described inborn errors of metabolism, first documented in 1903. 1 It is inherited as an autosomal recessive condition and presents as a broader phenotype than merely the initial renal Fanconi syndrome, one that affects different organ systems as the patient ages. Understanding of this pan-tissue and pan-organ disease has evolved over the past century, and is t...

Cholestatic liver disease in long-term infantile nephropathic cystinosis.

BACKGROUND Cystinosis is a metabolic disease characterized by accumulation of cystine in different organs and tissues, leading to potentially life-threatening organ dysfunction. Infantile cystinosis typically leads to end-stage renal disease, necessitating renal replacement therapy. Liver disease in cystinosis is rare and is mostly reported as nodular regenerative hyperplasia leading to portal ...