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Neonatal cholestasis
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Arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is a rare autosomal recessive disorder caused by mutations in VPS33B (ARCS1) and VIPAS39 (ARCS2). As per literature, most patients with ARCS died of persistent infections and bleeding by the age of 1 year.
6p
vigojek
02-02-2024
5
1
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Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder presenting as isolated direct hyperbilirubinemia.DJS is rarely diagnosed in the neonatal period. The purpose of this study was to clarify the clinical features of neonatal DJS and to analyze the genetic mutation of adenosine triphosphate-binding cassette subfamily C member 2 (ABCC2).
6p
vimoscow2711
28-08-2020
17
2
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Idiopathic or transient neonatal cholestasis (TNC) represents a group of cholestatic disorders with unidentified origin and remains a diagnosis of exclusion. Dysfunction of hepatobiliary transporters mediating excretion of biliary constituents from hepatocytes may play a central role in the pathogenesis of cholestasis.
5p
vimanama2711
28-07-2020
12
2
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There is little published data regarding the rate of bilirubin clearance in newborns following total parenteral nutrition (TPN) cessation, particularly in the neonatal intensive care unit (NICU) population without intestinal failure.
7p
vichengshin2711
26-02-2020
13
1
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Although neonates and young infants with cholestasis are commonly treated with either phenobarbital or ursodeoxycholic acid (ursodiol), there is no evidence that phenobarbital is effective for this indication.
6p
vidr2711
19-02-2020
14
1
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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants. Mutations in the SLC25A13 gene, which encodes citrin protein expressed in the liver, have been identified as the genetic cause for NICCD.
5p
virome2711
13-01-2020
10
1
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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) has high prevalence in East Asia, and has been reported in other parts of the world. NICCD is also the most common form of genetic cholestasis among East Asians.
8p
vidublin2711
13-01-2020
12
2
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(bq) part 1 book "liver pathology" presentation of content: acute hepatitis and fulminant hepatic failure, chronic hepatitis, biliary diseases and cholestasis, metabolic and hereditary disorders, vascular disorders, neonatal disorders.
102p
thangnamvoiva23
06-10-2016
33
5
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