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. 2015 Jul 25:10:90.
doi: 10.1186/s13023-015-0307-9.

Excellent long-term outcome of renal transplantation in cystinosis patients

Camille Cohen  1   2 , Marina Charbit  2   3 , Bernadette Chadefaux-Vekemans  2   4 , Magali Giral  5 , Valérie Garrigue  6 , Michèle Kessler  7 , Corinne Antoine  8 , Renaud Snanoudj  1   2 , Patrick Niaudet  2   3 , Henri Kreis  1   2 , Christophe Legendre  1   2 , Aude Servais  9   10
Affiliations

Excellent long-term outcome of renal transplantation in cystinosis patients

Camille Cohen et al. Orphanet J Rare Dis. .

Abstract

Background: Cystinosis is a rare lysosomal disorder leading to end stage renal disease in more than 90 % of patients before 20 years of age. Data about safety and efficiency of renal transplantation in patients with cystinosis is scarce. We evaluated long-term outcomes of renal transplantation in adult patients with cystinosis.

Methods: Data of renal transplantation (n = 31) in 30 adult patients with cystinosis in 5 French university transplant centers between 1980 and 2013 were retrospectively analyzed. A control cohort of 93 patients was matched for age, graft date, living/deceased donor status and transplant center.

Results: Median age at transplantation was 20.4 years (7-36.5). At transplantation, all patients with cystinosis had corneal cystine deposits, 3 had diabetes and 7 had hypothyroidism. Graft survival was better in patients with cystinosis than in control patients (p = 0.013). Multivariate analysis confirmed that cystinosis was an independent protective factor for graft survival (Hazard Ratio (HR) 0.11; CI95 [0.02-0.61]). Specific complications of cystinosis occurred during follow up: diabetes mellitus (n = 4), hypothyroidism (n = 1), liver involvement (n = 1), neurologic involvement (n = 2). Proportion of post-transplant diabetes mellitus (PTDM) was not statistically different in cystinosis group compared to control group: 4 (13.0 %) compared to 5 (5.0 %), respectively (p = 0.25), with no differences regarding calcineurin inhibitors and steroids treatments during follow-up.

Conclusions: Renal transplantation appears to be safe with excellent long-term outcomes in patients with cystinosis. These patients may receive standard immunosuppressive regimens with steroids and calcineurin inhibitors.

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Figures

Fig. 1
Fig. 1
Renal survival a) Kaplan-Meier analysis of graft survival during follow up. Number of patients at risk is recapitulated in the table below the figure. b) Kaplan-Meier analysis of graft survival during follow up, excluding recurring diseases. Number of patients at risk is recapitulated in the table below the figure. c) Multivariate Cox model for associated factors with graft survival. Data are expressed as hazard ratio (spot) with 95 % confidence interval (bars)
Fig. 2
Fig. 2
Kidney transplant biopsy showing cystine crystal (arrows) into recipient mononuclear cells. a). Intracapillary circulating lymphocyte with cystine crystals (arrows). Electron microscopy, magnification x5000. b). Cystine crystals (arrows) in a macrophage infiltrating the mesangium. Electron microscopy, uranyl lead staining, magnification x2400. Photo Dr MC Gubler, and Dr GS Spear
See this image and copyright information in PMC

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