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 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...
متن کاملThe Hepato-Pulmonary-Cutaneous Syndrome: Description of a Case and Suggestion of a Unifying Hypothesis
We report a 54-year-old patient with the association of hepatic dysfunction with cyanosis, severe hypoxemia, platypnea-orthodeoxia, diffuse cutaneous spider nevi, telangiectasia, palmar erythema, digital clubbing and findings of marked intrapulmonary vascular dilation and arterovenous shunt. The diagnosis of hepato-pulmonary-cutaneous syndrome, a term we think more appropriate and inclusive tha...
متن کاملSyndromic diarrhea/Tricho-hepato-enteric syndrome
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the f...
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 ...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1964
ISSN: 0035-9157
DOI: 10.1177/003591576405700633