453 CHOLESTASIS IN THE CEREBRO-HEPATO-RENAL (CHR) SYNDROME: BILE ACID AND MITOCHONDRIAL ABNORMALITIES
نویسندگان
چکیده
منابع مشابه
Zellweger syndrome (cerebro-hepato-renal syndrome).
A syndrome with distinctive clinical features affecting brain, liver and kidneys was described by Bowen et al in 1964 1 and Smith et al. in 1965 2 . In 1973 Goldfisher et al 3 has reported that peroxisomes were absent in the liver and kidneys of affected children. More recently lack of dihydroxyacetone phosphate acyletransferase (DHAP-AT) a peroxisomal enzyme with a major role in glycerol ether...
متن کاملBand heterotopia in Zellweger syndrome (cerebro-hepato-renal syndrome).
Zellweger syndrome (cerebro-hepato-renal syndrome) is associated with generalized hypotonia, high forehead with flattened facies, hepatomegaly and talipes equinovarus. This pattern of malformations was first recognized in 1964 by Bowen and Smith. Zellweger syndrome is an autosomal recessive genetic disorder that is associated with multiple biochemical markers of peroxisomal dysfunction. A full ...
متن کاملTapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome.
Electrophysiological and histopathological study of a baby suffering from Zellweger's syndrome and presenting progressive retinal dysfunction showed this to be related to degenerative changes in the photoreceptor cells and pigment epithelium and to defective myelination of the optic nerve. Disturbances of bile acid and lysine metabolism were also demonstrated, lending support to the concept tha...
متن کاملLignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.
The deficient oxidation and accumulation of very-long-chain fatty acids in the Zellweger cerebro-hepato-renal syndrome (CHRS) and X chromosome-linked adrenoleukodystrophy (ALD), coupled with the observation that peroxisomes are lacking in CHRS, prompted us to investigate the subcellular localization of the catabolism of lignoceric acid (C24:0). Peroxisomal and mitochondrial-rich fractions were ...
متن کاملUpdates on Hepato-Renal Syndrome.
Hepato-renal syndrome (HRS) is one of the most detrimental conditions in patients with end stage liver failure. Historically, HRS was considered a terminal disease associated with cirrhosis and was termed "liver-death syndrome". Furthermore, despite the improved understanding of pathophysiology and the reversibility of renal dysfunction in HRS, mortality remains extremely high especially for ty...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1978
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197804001-00458