Nephropathic cystinosis in Poland: a 40-year retrospective study

Abstract

This is the first comprehensive report on nephropathic cystinosis (NC) from Poland. To date, the prevalence, clinical course, genetic background, treatment and outcome of this rare inherited metabolic disease was unknown in this country. The results of this study indicate that the prevalence of NC in Poland is much lower than in Western countries, and moreover its molecular background appears to be different. The latter is based on infrequent occurrence of the common 57-kb deletion, and higher proportion of other pathogenic variants of the CTNS gene, mainly c.18_c.21delGACT and c.681+1G>A. It should be noted that an unfavorable course in majority of Polish patients was caused by a historically limited accessibility to the specific cystine depletion therapy with cysteamine. Fortunately, better access to diagnostic and therapeutic procedures has significantly improved patients' care in recent years.