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 end- stage renal disease (ESRD) in Serbia and give a recent statement of the disease. Methods. ESRD database of the Centre for Paediatric Renal Replacement Therapy (RRT) in Serbia was used to identify all patients with INC who started RRT before age of 19 years during the period January 1980 - December 2008; their records concerning clinical characteristics, therapy and outcome were evaluated. Results. Only three of 298 paediatric patients with ESRD had INC. The first signs of the illness were recognised during infancy. Fancony syndrome was diagnosed in the second year, but the diagnosis of cystinosis was delayed at mean 6 years. ESRD occurred in the first decade of life. All patients under- went cadaver kidney transplantation. At the end of the study period all patients were alive. A 31-year-old female patient was on maintenance chemodialysis due to graft failure after functioning for 11 years. She was growth retarded, single, unemployed, with severe signs of renal dystrophy. Two male patients (14.3 and 14.7 years old) had normal graft function, normal education, and good quality of life, although they were also severe growth retarded. Conclusion. The prevalence of infantile nephropathic cystinosis is low in Serbia. The diagnosis of cystinosis was delayed in all patients, although they exhibited the typical course of the disease.

Impact of Changing Trend in Cold Ischaemic Time on Operating Times in Renal Transplantation

INTRODUCTION The European Working Time Directive (EWTD) is calling for reduction in the working hours of doctors. Renal transplantation is well-recognised as an out-of-hours specialty. Our study looks at whether our renal transplant centre's attempt to reduce cold ischaemic time (CIT) has impacted on the pattern of operating times since this may have implications on the surgeons' working hours. PATIENTS AND METHODS We studied 883 adult cadaver kidney transplants performed between 1 January 1992 and 31 December 2002. CIT and time of surgery was obtained from a local audit database (< www.nwkta.org >) and that held by UK Transplant. Time of surgery was divided into 07:30–17:59 (day),18:00–23:59 (evening) and 00:00–07:29 (night). RESULTS CIT has decreased since 1992, with a significant reduction after 1998 (P = 0.0001). There was, however, no difference in the percentage of operations performed during the three time periods before and after 1998. Between 1999–2002, 51.4% of transplants took place out of hours (i.e. 18:00–07:29). CONCLUSIONS Reduction in CIT does not appear to have impacted on our operating times. The large amount of out-of-hours work is, however, not compliant with EWTD requirements.