Swallowing Dysfunction in Nephropathic Cystinosis

• Published in: The New England journal of medicine Vol. 323; no. 9; pp. 565 - 570
• Main Authors: Sonies, Barbara C, Ekman, Evan F, Andersson, Hans C, Adamson, Megan D, Kaler, Stephen G, Markello, Thomas C, Gahl, William A
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 30.08.1990
• Subjects: Adolescent; Adult; Age; Age composition; Barium; Biological and medical sciences; Child; Child, Preschool; Childrens health; Cysteamine - therapeutic use; Cystinosis; Cystinosis - complications; Cystinosis - physiopathology; Deglutition; Deglutition Disorders - etiology; Dysphagia; Esophagus; Female; Humans; Kidney Diseases - etiology; Kidney Diseases - physiopathology; Kidney Diseases - therapy; Kidney Transplantation; Male; Medical sciences; Mouth - physiopathology; Nephrology. Urinary tract diseases; Patients; Pharynx; Renal failure; Sensorimotor system; Speech; Studies; Swallowing; Symmetry; Tongue; Transplantation; Transplants & implants; Ultrasonic imaging; Ultrasound; Cystinosis; Human; Nephropathy; Treatment; Diet; Complication; Age
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199008303230903

NEPHROPATHIC cystinosis is a lysosomal storage disease in which cystine accumulates intracellularly in many tissues, including the kidney. Renal failure generally occurs at approximately 10 years of age, 1 2 3 4 although glomerular dysfunction can be slowed or halted by the oral administration of cysteamine. 5 , 6 This aminothiol participates in a disulfide-interchange reaction with cystine, followed by the removal of the reaction products from the lysosome. 1 , 6 Endogenous cystine production continues, but the net result of cysteamine treatment is the depletion of cystine. 5 , 6 Before cysteamine became available, over 70 patients in North America with cystinosis underwent renal transplantation, which allowed them to survive into their . . .