The Eunefron cohort
- Prospective and retrospective analysis of patients with cystinosis •Data limited to:
– renal function (serum creatinine)
– treatment: cysteamine – indomethacin – hGH
– growth: height - Period: 1969-2012
- Countries
UK: 156
France: 92
Belgium & The Netherlands: 41
Italy: 28
Spain: 10
TOTAL: 327
Renal function
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The mean age at dialysis has increased by 6.5 years from the 1970’s (Figure 1)
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The age at cysteamine initiation correlates with renal outcome (Figure 2A,2B)
Early renal dysfunction is a very strong prognostic factor for progression of renal failure (Figure 2C) -
The presence of a 57kB large deletion does not modify the phenotype (Figure 3A)
ACE inhibitors did not seem to have a positive impact on renal function (Figure 3B) as opposed to indomethacin (Figure 3C)
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Univariate analysis for the risk of CKD5 showed significant association with early initiation of cysteamine and with the use of indomethacin. Marginal association was observed with the mean intraleucocyte cystine levels (Figure 4)
Linear growth
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The majority of patients demonstrate severe linear growth stunting (Figure 5)
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Linear growth has improved over the past 4 decades and was positively associated early prescription of cysteamine, and with the use of growth hormone and indomethacin (Figure 6)
Conclusions
- The Eunefron cohort represents one of the largest cohorts of patients with cystinosis assembled to date
- The analysis shows a gain of 6-7 years in the median age to reach dialysis over a period of 30 years
- Early treatment with cysteamine and the use of indomethacin influenced positively renal outcome
- Early initiation of cysteamine, the use of indomethacin and of growth hormone had positive impact on linear growth