Multimorbidity and cystinosis: what about the cardiovascular system?
Presented by Professor Michael Taggart – Chair of Reproductive Sciences, Cardiovascular Research Centre, Newcastle University, UK
Cystinosis is a very rare disease arising from mutations of the CTNS gene encoding the protein cystinosin. The dysfunction of cystinosin results in accumulation of cystine crystals in lysosomal intracellular organelles and aggressively worsening health outcomes in affected patients. This is most often evinced as renal dysfunction leading to eventual end stage kidney failure. However, multiple morbidities are also evident in other organ systems including the eye, lungs, pancreas and skeletal muscles. Relatively little attention has been given to possible dysfunctions occurring in the cardiac and vascular systems. This is relevant to consider for cystinosis patients as (i) maintaining circulatory homeostasis will impact upon the functional resilience of each organ system of the body to the disease and (ii) emergence of cystinosis treatment options that ameliorate, but not correct, the disease may extend lifespan to ages where cardiovascular co-morbidities may be revealed. Here, we will summarise scientific literature considering the effects of cystinosis on heart and blood vessels and draw attention to key features that may warrant further research attention in order to fully understand the disease mechanisms at play.