الوصف
Cystine is a neutral sulphur containing amino acid that is normally excreted through the kidneys and is involved in a variety of important cellular functions including detoxification, metabolism, and protein synthesis. Cystinosis is an inherited multisystemic disease resulting from failure of lysosomal cystine transport and the accumulation of cystine in the organs of affected individuals. Cystinosis is the most common inherited cause of renal Fanconi’s syndrome. The most severe form, infantile cystinosis, generally manifests between 6 and 12 months of age by fluid and electrolyte loss, aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis, rickets and growth retardation.
دواعي الإستعمال
Cystinosis causes widespread organ damage with ocular, endocrinological, hepatic, muscular and central nervous system complications. It is characterised by excessive amounts of cystine in urine.
نوع العينة والكمية والشروط
20 ml of 24 Hrs Urine Refrigerated
إحتياطات خاصة
Do not add acid or other preservatives to the sample.
المعدل الطبيعي
Negative