Arvelige cerebrookulorenale syndromer

Galina Sessa; Tina Duelund Hjortshøj; Martin Egfjord

Arvelige cerebrookulorenale syndromer

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

Galina Sessa, Tina Duelund Hjortshøj, Martin Egfjord

Department of Clinical Medicine

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 contribution	Hereditary cerebro-oculo-renal syndromes.
Original language	Danish
Article number	V07130452
Journal	Ugeskrift for Laeger
Volume	177
Issue number	4
Pages (from-to)	353-356
Number of pages	4
ISSN	0041-5782
Publication status	Published - 2015

Cite this

@article{562e5b8281de41329ef01cdbedb05703,

title = "Arvelige cerebrookulorenale syndromer",

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.",

author = "Galina Sessa and Hjortsh{\o}j, {Tina Duelund} and Martin Egfjord",

year = "2015",

language = "Dansk",

volume = "177",

pages = "353--356",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "4",

}

TY - JOUR

T1 - Arvelige cerebrookulorenale syndromer

AU - Sessa, Galina

AU - Hjortshøj, Tina Duelund

AU - Egfjord, Martin

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

M3 - Tidsskriftartikel

C2 - 25350305

SN - 0041-5782

VL - 177

SP - 353

EP - 356

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 4

M1 - V07130452

ER -

Arvelige cerebrookulorenale syndromer

Abstract

Fingerprint

Cite this