Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
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چکیده
منابع مشابه
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body. There are three different forms: infantile nephropathic cystinosis, which is the most common form, juvenile nephropatic, and non-nephropathic cysti...
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 کاملImproving the prognosis of nephropathic cystinosis
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by generalized proximal tubular dysfunction known as renal Fanconi syndrome and causes end-stage renal disease by the age of about 10 years if left untreated. Extrarenal organs are also affected, including the thyroid gland, gonads, pancreas, liver, muscle, and brain. Treatment consists of administrati...
متن کاملOcular Complications of Infantile Nephropathic Cystinosis.
Ocular complications are among the most common cause of discomfort and disability in patients with cystinosis, affecting virtually all individuals with nephropathic cystinosis if left untreated. Photophobia results from accumulation of cystine crystals within the corneal tissue. Compliance with recommended therapy can reverse this change, resulting in resolution of symptoms. Other ocular struct...
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ژورنال
عنوان ژورنال: Frontiers in Pediatrics
سال: 2018
ISSN: 2296-2360
DOI: 10.3389/fped.2018.00058