16 results on '"Nephropathic Cystinosis"'
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2. Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis
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Taranta, Anna, elmonem, mohamed a, Bellomo, Francesco, Leo, Ester De, Boenzi, Sara, Janssen, Manoe J., Jamalpoor, Amer, Cairoli, Sara, Pastore, Anna, Stefanis, Cristiano De, Colucci, Manuela, Rega, Laura R., giovannoni, isabella, Francalanci, Paola, Heuvel, Lambertus P. van den, Dionisi-Vici, Carlo, Goffredo, Bianca M., Masereeuw, Rosalinde, Levtchenko, Elena, Emma, Francesco, Afd Pharmacology, Pharmacology, Afd Pharmacology, and Pharmacology
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Embryo, Nonmammalian ,mice ,QH301-705.5 ,Cystinosis ,Cystine ,disulfiram ,Apoptosis ,Pharmacology ,Article ,Mice ,chemistry.chemical_compound ,All institutes and research themes of the Radboud University Medical Center ,cystinosis ,zebrafish ,Nephropathic Cystinosis ,Toxicity Tests ,Disulfiram ,medicine ,Animals ,Humans ,Disulfides ,Biology (General) ,Zebrafish ,Mice, Knockout ,Medicine(all) ,business.industry ,General Medicine ,medicine.disease ,Acetylcysteine ,Disease Models, Animal ,Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11] ,Cystinosin ,chemistry ,Larva ,Symporter ,Toxicity ,Kidney Diseases ,Cysteamine ,business ,medicine.drug - Abstract
Nephropathic cystinosis is a rare disease caused by mutations of the CTNS gene that encodes for cystinosin, a lysosomal cystine/H+ symporter. The disease is characterized by early-onset chronic kidney failure and progressive development of extra-renal complications related to cystine accumulation in all tissues. At the cellular level, several alterations have been demonstrated, including enhanced apoptosis, altered autophagy, defective intracellular trafficking, and cell oxidation, among others. Current therapy with cysteamine only partially reverts some of these changes, highlighting the need to develop additional treatments. Among compounds that were identified in a previous drug-repositioning study, disulfiram (DSF) was selected for in vivo studies. The cystine depleting and anti-apoptotic properties of DSF were confirmed by secondary in vitro assays and after treating Ctns-/- mice with 200 mg/kg/day of DSF for 3 months. However, at this dosage, growth impairment was observed. Long-term treatment with a lower dose (100 mg/kg/day) did not inhibit growth, but failed to reduce cystine accumulation, caused premature death, and did not prevent the development of renal lesions. In addition, DSF also caused adverse effects in cystinotic zebrafish larvae. DSF toxicity was significantly more pronounced in Ctns-/- mice and zebrafish compared to wild-type animals, suggesting higher cell toxicity of DSF in cystinotic cells. ispartof: CELLS vol:10 issue:12 ispartof: location:Switzerland status: published
- Published
- 2021
3. Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy.
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Nesterova, Galina, Williams, Caitlyn, Bernardini, Isa, and Gahl, William
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KIDNEY glomerulus , *KIDNEY tubules , *AMINES , *CHRONIC kidney failure , *STATISTICAL correlation , *DRUGS , *KIDNEY diseases , *LYSOSOMAL storage diseases , *PATIENT compliance , *REGRESSION analysis , *RETROSPECTIVE studies , *FANCONI syndrome , *CYSTEINE , *DESCRIPTIVE statistics , *DISEASE complications , *PHYSIOLOGY , *THERAPEUTICS - Abstract
Background and objectives: Nephropathic cystinosis is a lysosomal storage disorder characterized by renal tubular Fanconi syndrome in infancy and glomerular damage leading to renal failure at ∼10 years of age. Therapy with the cystine-depleting agent cysteamine postpones renal failure, but the degree of compliance with this treatment has not been correlated with preservation of kidney function. Methods: We assessed leucocyte cystine depletion by cysteamine and created the composite compliance score that incorporates the extent of leucocyte cystine depletion, as well as duration of cysteamine treatment, into a single integer. Age at renal failure was used to gauge preservation of renal function, and the Fanconi syndrome index (FSI), a measure of aminoaciduria, was used to assess renal tubular Fanconi syndrome. Results: Age at renal failure varied directly and linearly with the composite compliance score ( y = 0.3x +8.8; R = 0.61). The slope indicated that for every year of excellent cystine depletion, nearly 1 year of renal function was preserved. Age at renal failure correlated roughly with mean leucocyte cystine level, but not with mean cysteamine dosage. There was no correlation between the FSI and the composite compliance score. Conclusions: Greater compliance with oral cysteamine therapy yields greater preservation of renal glomerular, but not tubular, function. Oral cysteamine therapy should be given at the maximum tolerated dose, within the recommended limits. [ABSTRACT FROM AUTHOR]
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- 2015
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4. Lysosomal Cystine Storage Augments Apoptosis in Cultured Human Fibroblasts and Renal Tubular Epithelial Cells
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Margaret A. Park, Amanda Helip-Wooley, and Jess G. Thoene
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Programmed cell death ,medicine.medical_specialty ,Cystinosis ,Cystine ,Apoptosis ,Biology ,Kidney Tubules, Proximal ,chemistry.chemical_compound ,Reference Values ,Nephropathic Cystinosis ,Lysosome ,Internal medicine ,medicine ,Humans ,Cysteine ,Cells, Cultured ,Kidney ,Epithelial Cells ,General Medicine ,Fibroblasts ,medicine.disease ,Endocrinology ,medicine.anatomical_structure ,chemistry ,Cystinosin ,Nephrology ,Kidney Diseases ,Cysteamine ,Lysosomes - Abstract
Nephropathic cystinosis is a lethal disorder of lysosomal cystine storage due to defective lysosomal cystine transport. How lysosomal cystine causes this multisystemic disorder culminating in end-stage renal disease is not known, because the cystine is isolated from cellular metabolism by the lysosomal membrane. It is here reported that in both normal and nephropathic cystinotic fibroblasts and cultured renal proximal tubule epithelial cells, increased lysosomal cystine causes an increased rate of apoptosis. In nephropathic cystinotic fibroblasts, the rate of apoptosis is 14.8% after exposure to TNF-alpha versus 7.8% in control normal fibroblasts. Anti-Fas antibodies and UV exposure induced apoptosis in 18.1% and 17.4% of nephropathic cystinotic fibroblasts, respectively, versus 5.2% and 7.1% in normal fibroblasts when analyzed by CaspACE (P < 0.05). Similar results were found when the cells were analyzed by TdT-mediated dUTP nick end labeling (TUNEL). When the cystine content of normal fibroblasts is increased by exposure to cystine dimethylester (CDME), the apoptotic rate is increased to the rate seen in nephropathic cystinotic cells. Decreasing the cystinotic cells' cystine content by use of cysteamine results in normalization of the apoptotic rate. Renal proximal tubule epithelial (RPTE) cells are much more sensitive to CDME than fibroblasts, reaching 43.8% apoptosis 6 h after exposure to CDME alone, compared with 38.2% when exposed to TNF-alpha alone. Serum withdrawal causes an apoptotic rate of 8.7% in nephropathic cystinotic fibroblasts, compared with 6.1% in normal fibroblasts. That rate increases to 37.3% in normal fibroblasts after CDME exposure. Fibroblasts from two cystinotic variants, benign ocular and intermediate cystinosis, do not display increased apoptosis with increased lysosomal cystine. It is concluded that enhanced apoptosis resulting from lysosomal cystine storage may lead to inappropriate cell death and decreased cell numbers in many tissues and hence contribute to the nephropathic cystinotic phenotype. The variant forms may represent co-segregation or linkage of rare alleles that confer resistance to apoptosis, moderating the cell loss and causing the milder disease expression.
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- 2002
5. Abnormal mitochondrial autophagy in nephropathic cystinosis
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Poonam Sansanwal and Minnie M. Sarwal
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medicine.medical_specialty ,Programmed cell death ,Cystinosis ,Cystine ,Mitochondrion ,Biology ,Kidney Tubules, Proximal ,Mice ,chemistry.chemical_compound ,Nephropathic Cystinosis ,Lysosome ,Internal medicine ,Autophagy ,medicine ,Animals ,Humans ,Child ,Molecular Biology ,Cell Biology ,Fibroblasts ,Fanconi Syndrome ,medicine.disease ,Autophagic Punctum ,Mitochondria ,medicine.anatomical_structure ,Endocrinology ,chemistry ,Apoptosis ,Kidney Diseases - Abstract
Cystinosis, which is characterized by lysosomal accumulation of cystine in many tissues, was the first known storage disorder caused by defective metabolite export from the lysosome. The molecular and cellular mechanisms underlying nephropathic cystinosis, the most severe form, which exhibits generalized proximal tubular dysfunction and progressive renal failure, remain largely unknown. We used renal proximal tubular epithelial (RPTE) cells and fibroblasts from patients with three clinical variants of cystinosis: nephropathic, intermediate and ocular to explore the specific injury mechanism in nephropathic cystinosis. We demonstrate enhanced autophagy of mitochondria, increase in apoptosis and mitochondrial dysfunction in the nephropathic cystinosis phenotype. Furthermore, specific inhibition of autophagy results in significant attenuation of cell death in nephropathic cystinosis. This study provides ultrastructural and functional evidence of abnormal mitochondrial autophagy in nephropathic cystinosis, which may contribute to renal Fanconi syndrome and progressive renal injury.
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- 2010
6. Distal vacuolar myopathy in nephropathic cystinosis
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Valerie A. Cwik, Thomas Brushart, Isa Bernardini, Marinos C. Dalakas, Lawrence R. Charnas, Roger W. Gilliatt, William A. Gahl, Kamal G. Ishak, Carlos A. Luciano, and Douglas L. Fraker
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Adult ,Pathology ,medicine.medical_specialty ,Weakness ,Adolescent ,Cystinosis ,Neural Conduction ,Muscular Diseases ,Nephropathic Cystinosis ,Lysosomal storage disease ,medicine ,Humans ,Myocyte ,Myopathy ,business.industry ,Facial weakness ,Anatomy ,medicine.disease ,Kidney Transplantation ,Transplantation ,Neurology ,Vacuoles ,Cystine ,Kidney Diseases ,Neurology (clinical) ,medicine.symptom ,business - Abstract
Nephropathic cystinosis is a lysosomal storage disorder leading to renal failure by age 10 years. Prolonged patient survival following renal transplantation has allowed the development of previously unknown long-term complications. Muscle involvement has been reported in a single posttransplant cystinosis patient, but the range of clinical, electrophysiologic, and histologic features has not been fully described. Thirteen of 54 post-renal-transplant patients that we examined developed weakness and wasting in the small hand muscles, with or without facial weakness and dysphagia. Tendon reflexes were preserved and sensory examinations were normal. Electrophysiologic studies in 11 affected patients showed normal nerve conduction velocities and preserved sensory action potentials. The voluntary motor units in the affected distal muscles had reduced amplitude and brief duration, confirmed with quantitative electromyography in 4 patients. Biopsy of the severely affected abductor digiti minimi or extensor carpi radialis brevis muscles in 2 patients revealed marked fiber size variability, prominent acid phosphatase-positive vacuoles, and absence of fiber type grouping or inflammatory cells. Crystals of cystine were detected in perimysial cells but not within the muscle cell vacuoles. The muscle cystine content of clinically affected muscles was markedly elevated. We conclude that a distal vacuolar myopathy is a common late complication of untreated nephropathic cystinosis. Although the cause is unclear, the general lysosomal defect in this disease may also affect the lysosomes within muscle fibers.
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- 1994
7. Perioperative care of the patient with nephropathic cystinosis
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Theresa L. Ray and Joseph D. Tobias
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medicine.medical_specialty ,Photophobia ,Cystinosis ,Oral Surgical Procedures ,Cystine ,Urology ,Renal function ,Disease ,Anesthesia, General ,Perioperative Care ,chemistry.chemical_compound ,Nephropathic Cystinosis ,medicine ,Lysosomal storage disease ,Humans ,Renal Insufficiency ,business.industry ,Tooth, Impacted ,Infant ,Water-Electrolyte Balance ,medicine.disease ,Fanconi Syndrome ,Surgery ,Anesthesiology and Pain Medicine ,chemistry ,Pediatrics, Perinatology and Child Health ,Perioperative care ,Female ,Kidney Diseases ,Molar, Third ,medicine.symptom ,business - Abstract
Cystinosis is an autosomal recessive disease that results in a defective integral membrane protein responsible for the transport of cystine out of lysosomes. This results in the accumulation of cystine in the lysosomes of almost every tissue, with subsequent formation of damaging crystals. The cystinotic process may affect every system of the body, but is particularly damaging to the kidneys and eyes. We discuss the perioperative care of a cystinotic patient with renal insufficiency, Fanconi's syndrome, and photophobia. Other organ systems affected by the cystinotic process are also discussed, with suggestions for the perioperative management of each. Issues of primary concern during perioperative care include preservation of renal function and maintenance of fluid and electrolyte homeostasis.
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- 2004
8. Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
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Mehul Dixit and Ira Greifer
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Male ,medicine.medical_specialty ,Cardiomyopathy ,Cystinosis ,Case Report ,Autopsy ,Kidney ,Renal Artery Obstruction ,lcsh:RC870-923 ,Nephropathic cystinosis ,Pseudoaneurysm ,Fatal Outcome ,Nephropathic Cystinosis ,Internal medicine ,medicine ,Humans ,Pericarditis ,Child ,Kidney transplantation ,Rupture, Spontaneous ,business.industry ,Myocardium ,Restrictive cardiomyopathy ,lcsh:Diseases of the genitourinary system. Urology ,medicine.disease ,Kidney Transplantation ,Renal transplant ,Nephrology ,Heart failure ,Long term survivor ,Cardiology ,Cystine ,Kidney Failure, Chronic ,Kidney Diseases ,Cardiomyopathies ,business ,Aneurysm, False ,Follow-Up Studies - Abstract
Background Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure. Case report We describe the clinical course of a patient managed from the age of six until his death at the age of 33 years. He underwent multiple surgery, including two renal transplants, developed transplant renal artery stenosis that was managed medically, and progressive heart failure at the age of 33 years. His death from a ruptured pseudoaneurysm associated with a restrictive cardiomyopathy is noteworthy. A limited cardiac autopsy revealed the presence of cystine crystals in interstitial cardiac histiocytes and one myocardial cell, along with 1000-fold higher tissue cystine content of the left ventricular myocardium compared to patients without cystinosis, suggesting the possibility of direct cystine mediated metabolic injury.
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- 2002
9. Parenchymal organ cystine depletion with long-term cysteamine therapy
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Kamal G. Ishak, Isa Bernardini, Thomas C. Markello, Marinos C. Dalakas, Lawrence R. Charnas, and William A. Gahl
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Male ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Cysteamine ,Cystinosis ,Cystine ,Kidney ,Biochemistry ,chemistry.chemical_compound ,Oral administration ,Nephropathic Cystinosis ,Internal medicine ,medicine ,Lysosomal storage disease ,Humans ,Child ,Lung ,Pancreas ,business.industry ,Muscles ,Skeletal muscle ,Infant ,medicine.disease ,Fanconi Syndrome ,medicine.anatomical_structure ,Endocrinology ,chemistry ,Liver ,Microscopy, Electron, Scanning ,Kidney Diseases ,business ,Spleen - Abstract
Nephropathic cystinosis is a lysosomal storage disorder characterized by renal failure, multisystem organ damage, and poor growth. Oral cysteamine therapy retards renal deterioration and enhances growth, but parenchymal organ cystine depletion has never been documented. We measured skeletal muscle cystine in 11 cystinosis patients not treated with cysteamine; analysis of their values plus 11 published values showed that muscle cystine increases linearly with age in cystinosis patients (slope, 0.074 nmol half-cystine/mg wet wt/year). In contrast, 15 patients treated for 4 to 11 years with oral cysteamine had a relatively constant muscle cystine content (slope, 0.004 nmol half-cystine/mg wet wt/year). The treated patients' mean muscle cystine, 0.091 +/- 0.064 (SD) nmol half-cystine/mg wet wt, was significantly less (P < 0.001) than that for the 11 youngest untreated patients, 0.754 +/- 0.534 nmol half-cystine/mg wet wt. On postmortem examination, a 9-year-old cystinosis patient treated for 8 years with oral cysteamine had liver, kidney, pancreas, lung, and spleen cystine values 5 to 90 times lower than those of an untreated age-matched control. We conclude that long-term oral cysteamine therapy routinely depletes cystinotic skeletal muscle of cystine; cysteamine is the treatment of choice for the prevention of both renal and nonrenal complications of cystinosis.
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- 1992
10. Central nervous system involvement in nephropathic cystinosis
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Marcia E. Cornford, Malekzadeh Mh, Shields Wd, Schneider Ja, Harry V. Vinters, and Vogel Dg
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Adult ,Central Nervous System ,Male ,Pathology ,medicine.medical_specialty ,medicine.medical_treatment ,Cystinosis ,Autopsy ,Biology ,Pathology and Forensic Medicine ,Cellular and Molecular Neuroscience ,Dystrophic calcification ,Nephropathic Cystinosis ,medicine ,Humans ,Brain Chemistry ,Fanconi syndrome ,Brain ,General Medicine ,medicine.disease ,Transplantation ,Microscopy, Electron ,Neurology ,Vacuolization ,Cystine ,Kidney Diseases ,Neurology (clinical) ,Hemodialysis ,Lysosomes - Abstract
Nephropathic cystinosis, an autosomal recessive lysosomal storage disorder due to impaired cystine transport, causes damage to multiple organs that results in end-stage renal disease, hypothyroidism, and retinopathy, usually in childhood. Dialysis and renal transplantation now frequently enable patients with cystinosis to live into adulthood. Examinations at autopsy of a 28-year-old man who died of complications of this disease showed deposits of cystine crystals in multiple organs. There was severe cerebral involvement with multifocal cystic necrosis, dystrophic calcification, spongy change, and vacuolization that had produced profound neurologic deficits. Electron microscopy of the brain documented cytoplasmic deposition of cystine crystals in membrane bound vacuoles within the cytoplasm of pericytes and within parenchymal cells of the white matter. While affected patients who have received renal transplants may no longer die from renal failure, serious, potentially life-threatening, neurologic complications of this disorder may supervene.
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- 1990
11. Nephropathic cystinosis with bone marrow involvement
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Venetia Bigley, A. Wood, and S. Bhartia
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Adult ,medicine.medical_specialty ,Hematology ,business.industry ,Macrophages ,Cystinosis ,Fanconi Syndrome ,medicine.disease ,Kidney Tubules ,medicine.anatomical_structure ,Nephropathic Cystinosis ,Internal medicine ,Immunology ,Lysosomal storage disease ,medicine ,Cystine ,Humans ,Female ,Kidney Diseases ,Bone marrow ,Crystallization ,business - Published
- 2007
12. Removal of Corneal Crystals by Topical Cysteamine in Nephropathic Cystinosis
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William A. Gahl, Sandeep Jain, Toichiro Kuwabara, Muriel I. Kaiser-Kupfer, and Leslie S. Fujikawa
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Male ,medicine.medical_specialty ,Adolescent ,genetic structures ,Photophobia ,Administration, Topical ,Cysteamine ,medicine.medical_treatment ,Eye disease ,Cystinosis ,Cystine ,In Vitro Techniques ,Corneal Diseases ,chemistry.chemical_compound ,Nephropathic Cystinosis ,Ophthalmology ,medicine ,Animals ,Humans ,Chemotherapy ,business.industry ,Age Factors ,Infant ,General Medicine ,medicine.disease ,eye diseases ,Surgery ,Recurrent corneal erosion ,chemistry ,Female ,Kidney Diseases ,Rabbits ,sense organs ,Ophthalmic Solutions ,medicine.symptom ,Crystallization ,business - Abstract
In patients with nephropathic cystinosis, corneal crystals develop by one year of age; they progressively accumulate and eventually cause recurrent corneal erosions and photophobia. After an in vitro study of cystinotic corneal stromal cells showed cystine depletion by cysteamine and after topical cysteamine was determined to be nontoxic in rabbits, we performed a controlled double-blind clinical trial of 10 mM cysteamine eyedrops in young patients with cystinosis, using one eye for treatment and the other as the control. Two children begun on the protocol before two years of age had a striking decrease in the number of corneal crystals in the cysteamine-treated eye within four to five months of entering the study. Cysteamine eyedrops appear to be safe and efficacious in the short-term treatment of patients with cystinosis who are under two years of age. The long-term value of such treatment and its effectiveness in older patients remain to be determined.
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- 1987
13. Glare disability in nephropathic cystinosis
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Jerry A. Schneider, Barrett Katz, and Ronald B. Melles
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Adult ,Male ,medicine.medical_specialty ,genetic structures ,Photophobia ,Adolescent ,Light ,Eye disease ,Cystinosis ,Cystine ,Vision Disorders ,chemistry.chemical_compound ,Tubulopathy ,Nephropathic Cystinosis ,Ophthalmology ,medicine ,Humans ,Child ,business.industry ,Metabolic disorder ,Glare (vision) ,medicine.disease ,eye diseases ,Surgery ,chemistry ,Child, Preschool ,Female ,Kidney Diseases ,sense organs ,medicine.symptom ,business - Abstract
• Cystinosis is a rare metabolic disorder in which nonprotein cystine accumulates within lysosomes due to a defect in lysosomal cystine transport. Although cystine accumulates within most ocular tissues, patients with cystinosis generally complain only of photophobia and glare. We measured glare sensitivity in 12 patients with infantile cystinosis and compared their results with an age-matched control population. Ten of the 12 patients with cystinosis had demonstrable glare disability when compared with the control group. Glare disability scores in the patients with cystinosis ranged from 5% to 50%. Dazzle glare resulting from the accumulation of cystine crystals in ocular tissue may account for glare disability seen in these patients and contribute to their complaints of photophobia.
- Published
- 1987
14. Cysteamine therapy for children with nephropathic cystinosis
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Joseph D. Schulman, Jerry A. Schneider, Adam J. Jonas, Jess G. Thoene, Daniel W. Denman, William B. Rizzo, James J. Schlesselman, William A. Gahl, Brian J. Corden, and George F. Reed
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medicine.medical_specialty ,Cysteamine Bitartrate ,Cysteamine ,Cystinosis ,Kidney Glomerulus ,Renal function ,Administration, Oral ,Growth ,Placebo ,Gastroenterology ,chemistry.chemical_compound ,Nephropathic Cystinosis ,Internal medicine ,medicine ,Humans ,Child ,Clinical Trials as Topic ,business.industry ,General Medicine ,Ascorbic acid ,medicine.disease ,Endocrinology ,Kidney Tubules ,chemistry ,Cystinosin ,Child, Preschool ,Cystine ,Kidney Diseases ,business - Abstract
We treated 93 children with nephropathic cystinosis with oral cysteamine (mean dose, 51.3 mg per kilogram of body weight per day) for up to 73 months. This agent is known to be effective in depleting cells of cystine. In our study, the mean cystine depletion from leukocytes was 82 percent. A historical control group of 55 children received either ascorbic acid (27 children) or placebo (28). At age six, 2 of 17 controls had a serum creatinine level less than 1.0 mg per deciliter, as compared with 17 of 27 patients treated with cysteamine for at least one year (odds ratio, 12.8; 95 percent confidence interval, 2.1 to 33.9). At the end of the study, creatinine clearance was higher in the cysteamine group than in the control group (38.5 vs. 29.7 ml per minute per 1.73 m2; 95 percent confidence limits on the difference, 1.8 and 15.8), even though the cysteamine group was on average 1.4 years older than the control group. Cysteamine also improved growth; those in the cysteamine group between two and three years of age grew at 93 percent of the normal velocity, as compared with 54 percent in the control group. Fourteen percent of the patients could not tolerate the taste and smell of cysteamine. Concurrent controls treated in a blinded fashion with a placebo were not included in this study. With this limitation in mind, we conclude that oral cysteamine, by depleting cells of cystine, helps maintain renal glomerular function, improves growth, and constitutes the current treatment of choice for nephropathic cystinosis.
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- 1987
15. Contrast sensitivity function in nephropathic cystinosis
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Barrett Katz, Jerry A. Schneider, and Ronald B. Melles
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Adult ,medicine.medical_specialty ,Pathology ,Adolescent ,media_common.quotation_subject ,Cystinosis ,Cystine ,chemistry.chemical_compound ,Tubulopathy ,Nephropathic Cystinosis ,Pathognomonic ,Reference Values ,Contrast (vision) ,Medicine ,Humans ,Child ,media_common ,business.industry ,Vision Tests ,Metabolic disorder ,Retinal ,medicine.disease ,Surgery ,Ophthalmology ,chemistry ,Space Perception ,Kidney Diseases ,business - Abstract
• Cystinosis is a rare autosomal recessive metabolic disorder in which nonprotein cystine accumulates within most body organs due to a defect in lysosomal cystine transport. The pathognomonic ocular manifestations of cystinosis are the presence of distinctive iridescent crystals within ocular tissue and a pigmentary retinopathy. We measured spatial contrast sensitivity in seven patients with infantile-onset nephropathic cystinosis and compared their contrast sensitivity function with that measured in ten age-matched controls. Spatial contrast sensitivities in the patient group were significantly lower than those in the normal group. Loss of contrast sensitivity in the patients with nephropathic cystinosis was more pronounced at higher spatial frequencies. We speculate that this loss of contrast function is primarily a manifestation of corneal disease, with secondary contributions from retinal changes and central nervous system dysfunction.
- Published
- 1987
16. Spatial and temporal sequence of corneal crystal deposition in nephropathic cystinosis
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Narsing A. Rao, Jerry A. Schneider, Ronald B. Melles, and Barrett Katz
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Adult ,Pathology ,medicine.medical_specialty ,Time Factors ,genetic structures ,Adolescent ,Eye disease ,medicine.medical_treatment ,Corneal Stroma ,Cystinosis ,Cystine ,Cornea ,chemistry.chemical_compound ,Nephropathic Cystinosis ,Medicine ,Humans ,Child ,Corneal transplantation ,business.industry ,Infantile nephropathic cystinosis ,Endothelium, Corneal ,medicine.disease ,eye diseases ,Ophthalmology ,medicine.anatomical_structure ,chemistry ,Child, Preschool ,Crystal deposition ,Kidney Diseases ,sense organs ,business ,Crystallization - Abstract
We studied 15 patients with infantile nephropathic cystinosis. We found that anterior corneal cystine crystal deposition began early in life and proceeded posteriorly as the patient aged; deposition advanced more rapidly in the periphery. Ultrastructural analysis of a corneal button obtained from a 20-year-old patient undergoing corneal transplantation confirmed our clinical observations that crystals were deposited throughout the entire central stroma.
- Published
- 1987
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