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Arvelige cerebrookulorenale syndromer

Forfatter(e)
Galina Sessa1, Tina Duelund Hjortshøj2 & Martin Egfjord1 1) Nefrologisk Klinik P, Rigshospitalet 2) Genetisk Rådgivningsklinik, Glostrup Sygehus Ugeskr Læger 2014;176:V07130452
Reference: 
Ugeskr Læger 2015;177:V07130452
Blad nummer: 
Sidetal: 
353-356
Hereditary cerebro-oculo-renal syndromes
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.
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