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. 2014 Sep;29 Suppl 4(Suppl 4):iv87-94.
doi: 10.1093/ndt/gfu090.

Nephropathic cystinosis: an international consensus document

Francesco Emma  1 , Galina Nesterova  2 , Craig Langman  3 , Antoine Labbé  4 , Stephanie Cherqui  5 , Paul Goodyer  6 , Mirian C Janssen  7 , Marcella Greco  1 , Rezan Topaloglu  8 , Ewa Elenberg  9 , Ranjan Dohil  10 , Doris Trauner  11 , Corinne Antignac  12 , Pierre Cochat  13 , Frederick Kaskel  14 , Aude Servais  15 , Elke Wühl  16 , Patrick Niaudet  17 , William Van't Hoff  18 , William Gahl  2 , Elena Levtchenko  19
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Nephropathic cystinosis: an international consensus document

Francesco Emma et al. Nephrol Dial Transplant. 2014 Sep.

Abstract

Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this document, we have summarized expert opinions on several aspects of the disease to improve knowledge and provide guidance for diagnosis and treatment.

Keywords: CTNS gene; cysteamine treatment; cystinosis; extra-renal complications; renal Fanconi syndrome.

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Figures

FIGURE 1:
FIGURE 1:
Percent of the patients with diabetes, myopathy, pulmonary dysfunction, death and hypothyroidism between 21 and 30 years old not treated with cysteamine (off cysteamine, blue) and well-treated with cysteamine (on cysteamine, red). There is a significance decrease in all above complications in the group of the patients well treated with cysteamine (original data provided by Dr W. Gahl and Dr G. Nesterova).
FIGURE 2:
FIGURE 2:
Slit-lamp photography of corneal cystine crystals. Corneal crystals appear as needle-shaped and highly reflective crystals within the cornea (original photograph provided by Dr. A. Labbé).
FIGURE 3:
FIGURE 3:
Superior 5-year renal graft survival in patients with cystinosis (NC) compared with patients with end-stage renal disease due to other causes (non-NC); adapted from Van Stralen et al. with permission [42].
See this image and copyright information in PMC

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