Publication: The value of conjunctival biopsy in childhood cystinosis
Authors
Cruz-Sánchez, F. F. ; Cervós-Navarro, J. ; Rodríguez-Prados, S. ; Lennert, T.
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Publisher
Murcia : F. Hernández
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DOI
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info:eu-repo/semantics/article
Description
Abstract
Cystinosis is frequently presented with
cystine storage in the cornea and cnnjiinctiva. and the
diagnosis can be established by slit-lamp esamination. It
can also be confirmed by elcctron microscopy of a
conjunctival biopsy .
The present paper reports on n 16-nionth-old boy with
Fanconi's syndronie. in whoni the slit-lanip examination
did not show crystal deposits of cystinc in the
conjunctiva. The ~iltrastructurals tudj,o f the conjunctival
biopsy demonstruted polygonal crystals within douhle
mcmbrane-liniited organelles located in fibrobliists.
Similar crystals were subsequently found in a hidney
biopsy. We therefore think that conjunctival biopsy is a
valuable diagnostic tool prior to pcrforming renal
biopsy, even in cases with negativc findings hy
ophthalmologic examination.
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