Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis
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چکیده
منابع مشابه
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis
BACKGROUND Nephropathic cystinosis is an inherited autosomal recessive lysosomal storage disorder characterized by the pathological accumulation and crystallization of cystine inside different cell types. WBC cystine determination forms the basis for the diagnosis and therapeutic monitoring with the cystine depleting drug (cysteamine). The chitotriosidase enzyme is a human chitinase, produced b...
متن کاملInfantile nephropathic cystinosis.
INTRODUCTION Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. OBJECTIVE To examine the prevalence and clinical characteristics of INC in paediatric patients with endstage renal disease (ESRD) in Serbia and give a recent statement of the disease. METHODS ESRD database of the Centre for Paediatric ...
متن کاملCorneal thickness in nephropathic cystinosis.
Cystinosis is a rare autosomal recessive metabolic disorder in which non-protein cystine accumulates within cellular lysosomes owing to a defect in lysosomal cystine transport. The pathognomonic ocular manifestation of cystinosis is the deposition of distinctive iridescent crystals in the cornea, not associated with any inflammatory response or recognised change in corneal function. We measured...
متن کاملLate-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
BACKGROUND AND OBJECTIVES 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-stag...
متن کاملPulmonary dysfunction in adults with nephropathic cystinosis.
OBJECTIVE To characterize the pulmonary dysfunction in patients with nephropathic cystinosis after renal transplantation. DESIGN Cross-sectional analysis of consecutive adult patients. PATIENTS Twelve adult, nephropathic cystinosis patients and 3 adult, ocular, nonnephropathic cystinosis patients admitted to the National Institutes of Health Clinical Center. RESULTS The 12 nephropathic cy...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2014
ISSN: 1750-1172
DOI: 10.1186/s13023-014-0155-z