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 retrosp...

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...

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...

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...

Medical literature indicates clearly that cystinuria and cystinosis, two severe genetic pathologies, are related to the presence of abnormal L-cystine deposits. While adopts a hexagonal crystal morphology consistent with its crystallographic structure (hexagonal, P6 1 22 space group), deposits cystinosis display rectangular shape. Because this is unexpected from L-cystine, we have investigated ...

Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It caused by mutations in the CTNS gene that encodes cystine transporter, cystinosin, which leads to accumulation. major cause of inherited Fanconi syndrome, should be suspected young children failure thrive signs renal proximal tubular damage. The diagnosis can missed infants, beca...

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...

Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in CTNS. The most prevalent CTNS mutation is a homozygous 57-kb deletion that also includes an adjacent gene named SHPK (CARKL), encoding sedoheptulokinase. Patients with this deletion have elevated urinary concentrations of sedoheptulose. Using derivatisation with pentafluorobenzyl hydroxylamine and liquid chrom...

OBJECTIVE To evaluate reproductive function in patients with cystinosis and in renal transplant recipients without cystinosis. DESIGN Cross-sectional study. SETTING Clinical Center, National Institutes of Health. PATIENTS Ten male patients, 15 to 28 years old, with nephropathic cystinosis and renal allografts formed the study group; 11 renal transplant recipients who had a primary renal d...

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...