1974
DOI: 10.1056/nejm197404182901604
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Prenatal Diagnosis of Cystinosis

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1976
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Cited by 70 publications
(21 citation statements)
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“…In contrast, retinal depigmentation is associated early with infantile cystinosis and can precede corneal changes (25). Notably, vacuolization of RPE cells was the only abnormal finding in an 18-wk cystinotic fetus (26). Therefore, the lack of early RPE anomalies in the Ctns Ϫ/Ϫ mice is intriguing.…”
mentioning
confidence: 98%
“…In contrast, retinal depigmentation is associated early with infantile cystinosis and can precede corneal changes (25). Notably, vacuolization of RPE cells was the only abnormal finding in an 18-wk cystinotic fetus (26). Therefore, the lack of early RPE anomalies in the Ctns Ϫ/Ϫ mice is intriguing.…”
mentioning
confidence: 98%
“…When more than one individual in a sibship has this condition, the age of onset of symptoms is similar. These facts suggest that the intermediate form of nephro- 18-week-old fetus with the infantile form of cystinosis contained 100 times the normal cystine content, yet the histology of this fetal kidney was normal (18). When followed very carefully from birth, the earliest age at which any renal abnormalities can be detected in infantile cystinosis is 4-6 months (34,35 (37,38).…”
Section: Discussionmentioning
confidence: 99%
“…Hybrids were cultured in the same media with HAT (16) and G418 (0.1 mg/ml) added (17). The fibroblast cultures used were from a fetus with infantile nephropathic cystinosis (18), from a Black patient with the same type of cystinosis (19), from a patient with intermediate cystinosis, and from two unrelated patients with benign cystinosis. The normal control fibroblast culture was started from the foreskin of a normal male infant.…”
Section: Methodsmentioning
confidence: 99%
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“…Le diagnostic prénatal s'effectue à l'aide de l'analyse du liquide amniotique entre 14 et 18 semaines de gestation (Schneider et al 1974;States et al1975;Boman et Schneider, 1981). Récemment l'étude des cellules chorioniques a montré un haut taux de cystine à seulement 9 semaines de gestation (Gahl et al 1985).…”
Section: Diagnosticunclassified