نتایج جستجو برای: cystinosis
تعداد نتایج: 824 فیلتر نتایج به سال:
PURPOSE In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. METHODS Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysi...
OBJECTIVE Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein. The aim of this study was to sequence the coding exons of the CTNS gene in five different Jordanian families and one family from Sudan with neph...
Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine. Three clinical forms (infantile, juvenile and ocular cystinosis) have been described according to the age of onset and severity of the symptoms. The causative gene, CTNS, encodes a seven transmembrane domain protein, cystinosin, which we recently identified as a H+-driven cystine transporter using an in ...
OBJECTIVES To test the hypothesis that a controlled-release preparation of cysteamine, with fewer daily administrations, would improve the quality of life for patients with cystinosis. STUDY DESIGN A specifically designed nasoenteric tube was used to administer cysteamine directly into the stomach, small intestine (SI) and colon and serial plasma cysteamine, serum gastrin and leukocyte cystin...
purpose: to report a case of cystinosis and idiopathic intracranial hypertention associated with duane syndrome type i. case report: a 15 years old girl and a known case of nephrotic cystinosis presented to eye clinic with complaints of lid fissure changes on horizontal gaze and headache since 6 months ago. she was obese and had short stature. she had history of kidney transplantation 6 years a...
X. Amino acid transport systems . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 354 A. Lysosomal cystine transport and cystinosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 354 B. The cystine dimc~[~,yl esle~ selection technique . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 356 C. Cationic ami...
Electron microscopic study of conjunctival biopsies from members of one sibship each of nephropathic and benign cystinosis showed polymorphic cystine profiles abundantly distributed in fibroblasts and histiocytes. These crystalline spaces measured from 0.2(i to 2/i and were delineated marginally by intact cellular membranes. Small crystalline aggregates were found in acid-phosphatase-positive o...
Lysosomes are intracellular sacs of enzymes that are responsible for the digestion of macromolecules. The products of the hydrolytic digestion process then leave the lysosome via specific transporters in its membrane, to be either reused by the cell or excreted outwards. The general consensus about cystinosis has been that it is an inherited multi-systemic disease resulting from failure of lyso...
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