Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\29147139
.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Therap+Adv+Gastroenterol
2017 ; 10
(11
): 889-905
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Insights into the management of Wilson s disease
#MMPMID29147139
Kathawala M
; Hirschfield GM
Therap Adv Gastroenterol
2017[Nov]; 10
(11
): 889-905
PMID29147139
show ga
Wilson's disease is a rare, inherited autosomal recessive disease of copper
metabolism, in which the causative gene, ATP7B, results in absent or reduced
function of the ATP7B transporter important for biliary excretion of copper and
incorporation of copper into caeruloplasmin. Affected patients accumulate
excessive copper within the liver, brain and other tissues. A disease mainly of
children, adolescents and young adults; clinical features vary from the
asymptomatic state to chronic liver disease, acute liver failure, and
neuropsychiatric manifestations. Diagnosis requires a high index of suspicion and
is based on a combination of clinical signs, biochemical tests, hepatic copper
content assay and mutation analysis of the ATP7B gene; to date, there are more
than 500 mutations of ATP7B in patients with Wilson's disease. Early recognition
and treatment can result in an excellent prognosis whereas untreated disease is
almost always fatal. Drug therapies include chelating agents, such as
penicillamine or trientine, and zinc salts. Liver transplantation is curative
correcting the underlying pathophysiology and is traditionally indicated in acute
liver failure or end-stage liver disease refractory to medical therapy. This
review provides an overview of various aspects of Wilson's disease including
molecular basis of the disease, clinical features, diagnostic and management
strategies with their current limitations.
free
free
free
