Late-Onset Nephropathic Cystinosis | Zendy

Aude Servais | Zendy; Vincent MorinieCombining Grave Accentre | Zendy; Jean-Pierre GruCombining Diaeresisnfeld | Zendy; Laure-HeCombining Acute AccentleCombining Grave Accentne NoeCombining Diaeresisl | Zendy; JeanMichel Goujon | Zendy; Bernadette Chadefaux-Vekemans | Zendy; Corinne Antignac | Zendy

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Late-Onset Nephropathic Cystinosis

Author(s) -

Aude Servais,

Vincent MorinieCombining Grave Accentre,

Jean-Pierre GruCombining Diaeresisnfeld,

Laure-HeCombining Acute AccentleCombining Grave Accentne NoeCombining Diaeresisl,

JeanMichel Goujon,

Bernadette Chadefaux-Vekemans,

Corinne Antignac

Publication year - 2008

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.01740407

Subject(s) - cystinosis , medicine , fanconi syndrome , lysosomal storage disease , tubulopathy , renal function , proteinuria , gastroenterology , pediatrics , pathology , endocrinology , disease , kidney disease , cystine , kidney , biology , biochemistry , cysteine , enzyme

Cystinosis is an autosomal recessive disease characterized by the intralysosomal accumulation of cystine, as a result of a defect in cystine transport across the lysosomal membrane. Three clinical forms have been described on the basis of severity of symptoms and age of onset: infantile cystinosis, characterized by renal proximal tubulopathy and progression to end-stage renal disease before 12 yr of age; juvenile form, with a markedly slower rate of progression; and adult form, with only ocular abnormalities.

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