Cystinosis.
نویسندگان
چکیده
منابع مشابه
Renal transplantation outcome in children with cystinosis
Background and Objective: Cystinosis is a rare inherited disease that leads to renal failure. Fanconi syndrome is the major renal involvement in cystinosis patients. Renal transplantation is the treatment of choice in cystinosis children with end-stage renal disease (ESRD). The study aimed to assess the outcome of renal transplantation in Iranian children with cystinosis. Methods: This...
متن کاملCraniofacial and dental findings in cystinosis.
OBJECTIVES Cystinosis is a rare autosomal recessive lysosomal storage disorder with developmental and mineralization anomalies as part of its clinical presentation. The objective of this study was to provide the first systematic assessment of the craniofacial and dental characteristics associated with cystinosis. STUDY DESIGN Oral and radiographic evaluations were performed on 73 patients wit...
متن کاملExcellent long-term outcome of renal transplantation in cystinosis patients
BACKGROUND Cystinosis is a rare lysosomal disorder leading to end stage renal disease in more than 90 % of patients before 20 years of age. Data about safety and efficiency of renal transplantation in patients with cystinosis is scarce. We evaluated long-term outcomes of renal transplantation in adult patients with cystinosis. METHODS Data of renal transplantation (n = 31) in 30 adult patient...
متن کاملInhibition of intracellular clusterin attenuates cell death in nephropathic cystinosis.
Nephropathic cystinosis, characterized by accumulation of cystine in the lysosomes, is caused by mutations in CTNS. The molecular and cellular mechanisms underlying proximal tubular dysfunction and progressive renal failure in nephropathic cystinosis are largely unclear, and increasing evidence supports the notion that cystine accumulation alone is not responsible for the end organ injury in cy...
متن کاملVisuomotor performance in children with infantile nephropathic cystinosis.
Infantile nephropathic cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various organs, including the kidney, cornea, thyroid, and brain. Despite normal intellect, individuals with cystinosis may have specific impairments in the processing of visual information. To examine further the specific types of deficits in visual processing found in individuals w...
متن کاملPhotic sneeze reflex in nephropathic cystinosis.
Photic induced sneeze is a reflex that occurs in certain individuals after exposure to bright light. Cystinosis is an autosomal recessive inborn error of metabolism in which nonprotein cystine accumulates within lysosomes. The pathognomonic ocular manifestation of cystinosis is corneal crystal deposition. We observed photic induced sneezes during ophthalmoscopic examination in five of 19 patien...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 27 134 شماره
صفحات -
تاریخ انتشار 1952