Improvement in the Renal Prognosis in Nephropathic Cystinosis

Abstract

SummaryBackground and objectives Nephropathic cystinosis (NC) is an autosomal recessive disorder occurring in one to two per 100,000 newborns. Because of the rarity of NC, long-term outcome data are scarce.Design, setting, participants, & measurements 245 NC patients from 18 countries provided data to the ESPN/ERA-EDTA registry. We matched NC patients on renal replacement therapy (RRT) to non-NC children on RRT.Results Between 1979 and 2008, mean age at the start of RRT among NC children increased by 0.15 year per calendar year (95% confidence interval, 0.10 to 0.21) from 8.8 to 12.7 years, whereas we did not observe this in non-NC children. Five-year survival after the start of RRT improved in NC patients from 86.1% (before 1990) to 100% (since 2000) as compared with the control population (89.6% and 94.0%). NC patients received a renal allograft more often (relative risk, 1.09; 95% confidence interval, 1.00 to 1.17) as compared with matched RRT children, and 5-year graft survival was better (94.0% versus 84.0%). NC dialysis patients were less often hypertensive than non-NC children matched for age, country, and dialysis modality (42.7% versus 51.7%) and had lower parathyroid hormone levels (median, 56 versus 140 pg/ml). Although height at start of RRT slightly improved during the past decade, children with NC remained significantly shorter than non-NC children at the start of RRT. ConclusionsWe demonstrated improved survival of the renal function as well as better patient and graft survival after the start of RRT in a large European cohort of NC patients over the last two decades.

Patient and Graft Survival Following Kidney Transplantation in Recipients With Cystinosis: A Cohort Study

“…10 years posttransplantation), frequently from extrarenal manifestations of cystinosis, and contrasts with relatively good 5-year posttransplantation survival in this study and in patients with cystinosis from the European ESKD registry. 10 The late group's current mortality (11.8%) matches the early group's survival curve for available follow-up, suggesting that these patients may still be at risk later on. Of particular concern are the neurologic, vascular, and respiratory (possibly secondary to bulbar dysfunction) mortality found in these patients.…”

Cistinosis en pacientes adolescentes y adultos: Recomendaciones para la atención integral de la cistinosis

“…Valoración nutricional con aporte de suplementos calóricos adecuados según la edad y la función renal Es de destacar que la duración del injerto renal funcionante en los pacientes cistinóticos es superior que el observado en la población trasplantada por otra causa 5,35 .…”

“…El diagnóstico precoz, la administración temprana de cisteamina y la adherencia al tratamiento, condicionan la morbilidad y el pronóstico vital 5,6 . El diagnóstico precoz, la administración temprana de cisteamina y la adherencia al tratamiento, condicionan la morbilidad y el pronóstico vital 5,6 .…”

Clinical utility gene card for: Cystinosis

“…Growth hormone may be indicated in patients with stunted growth despite adequate nutrition and electrolyte balance. [20][21][22] (2) Systemic cysteamine therapy (1.3-1.9 g/m 2 /day) should be administered immediately after making the diagnosis and continued life-long (also after kidney transplantation) to reduce cystine WBC levels to o1 nmol cystine/mg protein. 20,22 (3) Topical cysteamine eye drops (0.5%) should be administered at least 4 times daily to reduce corneal cystine crystals.…”