Wilson disease In Egyptian Children (One Center Study)
Wael Alsayed Albehairy;
Abstract
W
ilson’s disease (WD) is an autosomal recessive disease characterized by accumulation of intracellular copper in the liver and central nervous system.
It most commonly affects children and young adults. Patients present with a spectrum of clinical symptoms depending upon the most severely affected organ (e.g., acute liver failure, cirrhosis, neurologic or psychiatric symptoms).
It runs an invariably fatal course if not adequately treated by chelating agents.
Hepatic dysfunction is the most common initial manifestation in childhood, with patients in this category presenting at an average age of 10-13 years, a decade or more sooner than those presenting with neurologic symptoms. The type of the liver disease can be highly variable, ranging from asymptomatic patients with only biochemical abnormalities to acute liver failure.
An acute presentation with rapid deterioration may also occur in patients who were previously treated but stopped their medications. Suspicion for acute WD should be particularly high in patients with deep jaundice, low haemoglobin, only mildly increased transaminases, and low alkaline phosphatase and others may present with features indistinguishable from autoimmune hepatitis.
Neuropsychiatric symptoms due to Wilson disease may include behavioral changes, depression, anxiety or tremors.
There is no totally reliable test for WD, but levels of ceruloplasmin and copper in the blood, as well of the amount of copper excreted in urine during a 24 hour period, are together used to form an impression of the amount of copper in the body. The gold standard or most ideal test, however, is a liver biopsy.
ilson’s disease (WD) is an autosomal recessive disease characterized by accumulation of intracellular copper in the liver and central nervous system.
It most commonly affects children and young adults. Patients present with a spectrum of clinical symptoms depending upon the most severely affected organ (e.g., acute liver failure, cirrhosis, neurologic or psychiatric symptoms).
It runs an invariably fatal course if not adequately treated by chelating agents.
Hepatic dysfunction is the most common initial manifestation in childhood, with patients in this category presenting at an average age of 10-13 years, a decade or more sooner than those presenting with neurologic symptoms. The type of the liver disease can be highly variable, ranging from asymptomatic patients with only biochemical abnormalities to acute liver failure.
An acute presentation with rapid deterioration may also occur in patients who were previously treated but stopped their medications. Suspicion for acute WD should be particularly high in patients with deep jaundice, low haemoglobin, only mildly increased transaminases, and low alkaline phosphatase and others may present with features indistinguishable from autoimmune hepatitis.
Neuropsychiatric symptoms due to Wilson disease may include behavioral changes, depression, anxiety or tremors.
There is no totally reliable test for WD, but levels of ceruloplasmin and copper in the blood, as well of the amount of copper excreted in urine during a 24 hour period, are together used to form an impression of the amount of copper in the body. The gold standard or most ideal test, however, is a liver biopsy.
Other data
| Title | Wilson disease In Egyptian Children (One Center Study) | Other Titles | مرض ويلسون فى الأطفال المصريين (دراسة مركز واحد) | Authors | Wael Alsayed Albehairy | Issue Date | 2014 |
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