Haemolytic anaemia as a first sign of Wilson's disease.

نویسندگان

  • S Balkema
  • M E Hamaker
  • H P J Visser
  • G D N Heine
  • U Beuers
چکیده

A 19-year-old female presented with haemolytic anaemia and subsequently developed liver failure. This raised suspicion of Wilson's disease, which was confirmed by Kayser-Fleischer rings, a low ceruloplasmin level, raised 24-hour urinary copper excretion and two mutations in the 'Wilson gene'. She was successfully treated with D-penicillamine and zinc. In young patients with unexplained haemolysis, liver dysfunction or neuro-psychiatric symptoms, Wilson's disease should be considered.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Haemolytic anaemia as first manifestation of Wilson's disease: a report of two cases.

Wilson's disease can have different manifestations like jaundice, cirrhosis of liver, extrapyramidal symptoms and dementia. Haemolytic anaemia may occur but it is commonly associated with florid manifestation of liver disease. Sometimes, liver cell necrosis can release huge free copper ions in blood, giving rise to oxidant damage to erythrocytes. Oxidative damage to cell membrane, haemoglobin a...

متن کامل

[Wilson's disease].

A 17-year-old girl with haemolytic anaemia, parenchymal livel disease and gallbladder calculi, is reported. Kayser-Fleischer rings, transaminasaemia, deficiency of ceruloplasmin, increased cupriuria, and nodular cirrhosis of the liver, confirmed the diagnosis of Wilson's disease. Penicillamine therapy had to be interrupted a short time after it was started, because of penicillamine-induces acut...

متن کامل

Wilson's disease: a diagnostic dilemma.

A 13 year old boy presented with headache, sore throat, myalgia, and fever and subsequently developed haemolytic anaemia and acute liver failure. Wilson's disease, a rare cause of acute liver failure, was diagnosed at necropsy. In such cases Wilson's disease must be diagnosed at an early stage for treatment to be effective. The most reliable indications are increased urinary and hepatic copper ...

متن کامل

Hypoparathyroidism as a rare manifestation of Wilson,s disease: a case report

A 13 years old girl was admitted to the pediatric ward of hospital  No 1 of Kerman university of medical sciences because of crampy pains, pins and needles sensation of the extremities and history of an episode of seizure. Her problem started one week prior to admission with pain in the leg muscles, flexion of the fingers followed by seizure. On physical examination, the prominent finding inclu...

متن کامل

Relapsing Coombs-negative haemolytic anaemia in pregnancy with haemolytic disease in the newborn.

625 Relapsing Coombs-negative haemolytic anaemia in pregnancy with haemolytic disease in the newborn A rare form of acquired haemolytic anaemia is Coombs-negative haemolytic disease restricted to the period of pregnancy.'-3 Unlike previously reported cases, in our patient transient haemolytic disease developed in the infant also, lending support to the assumption of an autoimmune mechanism. Cas...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • The Netherlands journal of medicine

دوره 66 8  شماره 

صفحات  -

تاریخ انتشار 2008