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November 2, 1994

Successful Pregnancy in Cystinosis

Author Affiliations

Guy's Hospital London, England
Institute of Child Health London, England

JAMA. 1994;272(17):1327-1328. doi:10.1001/jama.1994.03520170037028

To the Editor.  —Cystinosis is an autosomal recessive disorder in which accumulation of lysosomal cystine leads to renal failure, growth retardation, photophobia, endocrine dysfunction, and other late complications.1,2 In their article from the National Institutes of Health reviewing the adult manifestations of the disease,2 Dr Theodoropoulos and colleagues give details of endocrine manifestations but do not address the question of female fertility. We wish to report a successful pregnancy in a cystinotic woman who had received treatment with phosphocysteamine.In 1965 when this patient was 27 months old, cystinosis was diagnosed following failure to thrive and a renal tubular Fanconi syndrome. Later complications included epilepsy, corneal crystals, hypertension, and hypothyroidism. Renal impairment developed, and she received a successful living related renal transplant in November 1975. In 1987, she started treatment with phosphocysteamine, cystine levels subsequently being maintained with administration of less than 1.5 nmol of half cystine per

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