Arvelige cerebrookulorenale syndromer

Translated title of the contribution: Hereditary cerebro-oculo-renal syndromes.

Galina Sessa, Tina Duelund Hjortshøj, Martin Egfjord

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.

Translated title of the contributionHereditary cerebro-oculo-renal syndromes.
Original languageDanish
Article numberV07130452
JournalUgeskrift for Laeger
Volume177
Issue number4
Pages (from-to)353-356
Number of pages4
ISSN0041-5782
Publication statusPublished - 2015

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