Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam
نویسندگان
چکیده
منابع مشابه
Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam
We present a 7-year-old patient who was diagnosed with asymptomatic nephropathic cystinosis following the detection of the pathognomonic corneal white crystalline opacities during a routine eye examination.
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 ...
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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...
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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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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...
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ژورنال
عنوان ژورنال: Türk Oftalmoloji Dergisi
سال: 2017
ISSN: 1300-0659
DOI: 10.4274/tjo.69922