Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There are 40 patients with Wilson's disease diagnosed in Albania; 24 were males and 16 females with an average age 18.8 +/- 8.47 years. The incidence rate was 1:75.000 and prevalence rate 1:148.000. According to clinical data, the Kayser-Fleischer ring was found in 75% of the cases, the neurologic in 60% and mental disturbances in 27.5%. The liver was damaged in all the cases of acute and chronic hepatitis or liver cirrhosis. In 35% signs of hypersplenism were seen. Comparing these data with a control group of 60 alcoholic or viral cirrhosis with hypersplenism, it was found that hypersplenism is encountered in younger ages (p < 0.0001). The platelets were lower in WD than in the control group (p < 0.05), but leucocytes were lower in the control group (p < 0.001). Portal hypertension was found in 42.5% of the cases. Six of these (35.3%) were complicated by gastrointestinal hemorrhage. In two twins the disease was accompanied with another congenital anomaly: genu valgum bilateralis. Two other patients had hypertrophy of the parotis gland, six patients had signs of acute haemolysis, accompanied by nonspherocytic anemia, Coombs negative.
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PMID:Wilson's disease in Albania. 747 17

Wilson's disease is characterized by hepatic and extrapyramidal movement disorders (EPS) with variable manifestation primarily between age 5 and 45. This variability often makes an early diagnosis difficult. A classification defines different clinical variants of Wilson's disease, which enables classifying the current clinical findings and making an early tentative diagnosis. Until the unequivocal proof or an autosomal recessive disorder of the hepatic copper transporter ATP7B has been ruled out, differential diagnoses have to be examined. Laboratory-chemical parameters of copper metabolism can both be deviations from the norm not related to the disease as well as other copper metabolism disorders besides Wilson's disease. In addition to known diseases such as Menkes disease, occipital horn syndrome (OHS), Indian childhood cirrhosis (ICC) and ceruloplasmin deficiency, recently discovered disorders are taken into account. These include MEDNIK syndrome, Huppke-Brendel syndrome and CCS chaperone deficiency. Another main focus is on differential diagnoses of childhood icterus correlated with age and anaemia as well as disorders of the extrapyramidal motor system. The Kayser-Fleischer ring (KFR) is qualified as classical ophthalmologic manifestation. The recently described manganese storage disease presents another rare metabolic disorder with symptoms similar to Wilson's disease. As this overview shows, Wilson's disease fits into a broad spectrum of internal and neurological disease patterns with icterus, anaemia and EPS.
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PMID:Classification and differential diagnosis of Wilson's disease. 3117