Cystinosis beyond kidneys: gastrointestinal system and muscle involvement

The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.

Renal proximal tubules are highly sensitive to ischemic and toxic insults and are affected in diverse genetic disorders, of which nephropathic cystinosis is the most common. The disease is caused by mutations in the CTNS gene, encoding the lysosomal cystine transporter cystinosin, and is characterized by accumulation of cystine in the lysosomes throughout the body. In the majority of the patien...

Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis

BACKGROUND Muscle wasting is a common complication in patients with infantile nephropathic cystinosis, but its mechanism and association with energy metabolism is not known. We define the metabolic phenotype in Ctns(-/-) mice, an established murine model of infantile nephropathic cystinosis, with focus on muscle wasting and energy homeostasis. METHODS Male Ctns(-/-) mice and wild-type (WT) co...

Central nervous system involvement in functional gastrointestinal disorders.

Although functional gastrointestinal disorders (FGID) are common, their pathophysiology remains incompletely understood. It is generally accepted that dysfunction of the bidirectional pathways between the gastrointestinal tract and the central nervous system (the 'brain-gut axis') at any level can cause FGID symptoms. In this review article, we focus on the role of the central nervous system in...

Assessment of gastrointestinal involvement.

The purpose of this paper is to identify a list of clinical, laboratory and instrumental tools suitable to assess the presence of gastrointestinal involvement in SSc patients to be included in clinical investigational studies. The pertinent literature was reviewed to select those variables which have been demonstrated to be valid, reliable and feasible. A minimal core set of variables has been ...

Cystinosis.