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Titolo:
CLASSIC NEPHROPATHIC CYSTINOSIS AS AN ADULT DISEASE
Autore:
THEODOROPOULOS DS; KRASNEWICH D; KAISERKUPFER MI; GAHL WA;
Indirizzi:
NICHHD,HUMAN GENET BRANCH,BLDG 10,ROOM 95242,9000 ROCKVILLE PIKE BETHESDA MD 20892 NIH,CTR CLIN,INTERINST MED GENET PROGRAM BETHESDA MD 20892 NICHHD,HUMAN GENET BRANCH,HUMAN BIOCHEM GENET SECT BETHESDA MD 20892 NEI BETHESDA MD 20892
Titolo Testata:
JAMA, the journal of the American Medical Association
fascicolo: 18, volume: 270, anno: 1993,
pagine: 2200 - 2204
SICI:
0098-7484(1993)270:18<2200:CNCAAA>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
NERVOUS-SYSTEM INVOLVEMENT; AGE 10 YEARS; CYSTEAMINE; COMPLICATIONS; INSUFFICIENCY; CHILDREN; PATIENT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
D.S. Theodoropoulos et al., "CLASSIC NEPHROPATHIC CYSTINOSIS AS AN ADULT DISEASE", JAMA, the journal of the American Medical Association, 270(18), 1993, pp. 2200-2204

Abstract

Objective.-To delineate the clinical characteristics of infantile nephropathic cystinosis in adult patients who have undergone renal transplantation. Design.-Case series. Setting.-Clinical research unit. Patients.-All 36 adult patients with nephropathic cystinosis referred to the National Institutes of Health. Outcome Measures.-Longevity, growth, renal allograft survival, visual acuity, endocrine insufficiency, myopathy and swallowing dysfunction, cerebral calcifications, and occupational status. Results.-Of the 36 patients, seven were dead, five with functioning allografts. The 1-year and 5-year graft survival rates for 30 cadaveric allografts were 90% and 75%, respectively. The patients' mean height and weight were severely retarded. Five patients were legally blind, and three others had severely impaired vision in one eye. Thirty-one (86%) of 36 patients required thyroid hormone replacement therapy. One third had a distal myopathy, and 21 had moderate to severe swallowing abnormalities. Eight patients had cerebral calcifications on computed tomographic scan. Despite these complications, the sighted patients engaged in a normal variety of occupations. Only 11 patients were receiving adequate cystine-depleting therapy with cysteamine (mercaptamine) or phosphocysteamine. Conclusions.-Adult patients with nephropathic cystinosis suffer serious complications of the disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/04/20 alle ore 16:00:29