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Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv87-94. doi: 10.1093/ndt/gfu090.

Nephropathic cystinosis: an international consensus document.

Author information

1
Division of Nephrology and Dialysis, Bambino Gesu` Children's Hospital - IRCCS, Rome, Italy.
2
Section on Human Biochemical Genetics, Human Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-1851, USA.
3
Kidney Diseases, Feinberg School of Medicine, Northwestern University and the Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
4
Quinze-Vingts National Ophthalmology Hospital, Paris and Versailles Saint-Quentin-en-Yvelines University, Versailles, France Clinical Investigations Center, INSERM 503, Quinze-Vingts National Ophthalmology Hospital, Paris, France.
5
Division of Genetics, Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.
6
Department of Pediatrics, McGill University, Montreal Children's Hospital, Montreal, Québec, Canada.
7
Department of Internal Medicine, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.
8
Division of Pediatric Nephrology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
9
Renal Service, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
10
Department of Pediatrics, Rady Children's Hospital, San Diego, University of California San Diego, San Diego, CA, USA.
11
Department of Neurosciences, University of California, San Diego, School of Medicine, San Diego, CA, USA.
12
Laboratory of Inherited Kidney Diseases, Inserm UMR 1163, Paris, France Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France APHP, Department of Genetics, Necker Hospital, Paris, France.
13
Centre de référence des maladies rénales rares, Hospices Civils de Lyon and Université Claude-Bernard Lyon 1, Lyon, France.
14
Pediatric Nephrology, Children's Hospital at Montefiore, Bronx, NY, USA.
15
Department of Adult Nephrology, Hôpital Necker-Enfants Malades, APHP, Paris Descartes University, Paris, France.
16
Division of Pediatric Nephrology, Center of Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.
17
Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris 75015, France.
18
Great Ormond Street Hospital, London, UK.
19
Department of Pediatric Nephrology and Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.

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

PMID:
25165189
PMCID:
PMC4158338
DOI:
10.1093/ndt/gfu090
[Indexed for MEDLINE]
Free PMC Article

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