Results 161 to 170 of about 1,953 (203)

Circulating cryoglobulins in nephropathic cystinosis

The Journal of Pediatrics, 1981
occurred without specific drug therapy. Progressive disease is often difficult to treat because of the frequently encountered pattern of drug resistance of the nontuberculous mycobacterial organisms. As the nontuberculous mycobacterial organisms are usually of low virulence, children with serious infections should be suspected of having underlying ...
J W, Foreman, M, Yudkoff, L, Yang, S, Segal   +3 more
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Pyroglutamic aciduria and nephropathic cystinosis

Journal of Inherited Metabolic Disease, 1999
Nephropatic cystinosis (NC; McKusick 219800) is caused by impaired cystine transport across the lysosomal membrane, resulting in renal tubular Fanconi syndrome and later evolving to chronic renal failure. To prevent the progression to renal failure, treatment with cysteamine is currently used for lowering parenchymal cystine storage.
C, Rizzo, A, Ribes, A, Pastore, C, Dionisi-Vici, M, Greco, G, Rizzoni, G, Federici   +6 more
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Glare Disability in Nephropathic Cystinosis

Archives of Ophthalmology, 1987
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.
B, Katz, R B, Melles, J A, Schneider
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Hematological Manifestations of Nephropathic Cystinosis

Acta Haematologica, 2008
Pancytopenia is an uncommon manifestation of cystinosis, a congenital lysosomal storage disease. We describe a 34-year-old patient with nephropathic cystinosis with multisystem involvement who developed progressive bone marrow failure after renal transplantation.
Ashkan, Emadi, Kathleen H, Burns, Bradley, Confer, Michael J, Borowitz, Michael B, Streiff   +4 more
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Intestinal Mucosa in Nephropathic Cystinosis

Journal of Pediatric Gastroenterology and Nutrition, 1987
SummaryThe major manifestations of nephropathic cystinosis are renal tubular acidosis, vitamin D‐resistant rickets, and dwarfism. Cystine crystals are deposited in a variety of cells, mainly phagocytic, including macro‐phages of the intestinal lamina propria.
T C, Iancu, A, Lerner, H, Shiloh
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Contrast Sensitivity Function in Nephropathic Cystinosis

Archives of Ophthalmology, 1987
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.
B, Katz, R B, Melles, J A, Schneider
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Management of nephropathic cystinosis

Expert Opinion on Orphan Drugs, 2013
Introduction: Cystinosis is a lysosomal storage disease caused by mutations in the CTNS gene (17p13), encoding the lysosomal cystine transporter cystinosin. Nephropathic cystinosis is characterized by the development of generalized proximal tubular dysfunction during infancy or childhood, progressing towards end-stage renal disease around the age of 10
Martine TP Besouw, Francesco Emma, Elena N Levtchenko   +2 more
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Pituitary-Testicular Function in Nephropathic Cystinosis

Annals of Internal Medicine, 1993
To evaluate reproductive function in patients with cystinosis and in renal transplant recipients without cystinosis.Cross-sectional study.Clinical Center, National Institutes of Health.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 ...
C L, Chik, A, Friedman, G R, Merriam, W A, Gahl   +3 more
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Distal vacuolar myopathy in nephropathic cystinosis

Annals of Neurology, 1994
AbstractNephropathic 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 ...
L R, Charnas, C A, Luciano, M, Dalakas, R W, Gilliatt, I, Bernardini, K, Ishak, V A, Cwik, D, Fraker, T A, Brushart, W A, Gahl   +9 more
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Nonabsorptive hydrocephalus associated with nephropathic cystinosis

Neurology, 1982
A child with nephropathic cystinosis developed seizures and coma. CT showed prominent sulci and slight ventricular enlargement. Nuclear cisternogram was normal. Despite successful renal transplantation and treatment of hypothyroidism, neurologic recovery was poor.
D L, Ross, C F, Strife, R, Towbin, K E, Bove   +3 more
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