liver copper storage disease in children with cryptogenic chronic liver disease

background: we aimed to determine the frequency of liver copper storage diseases in iranian children with cryptogenic chronic liver disease (cld). materials and methods: one-hundred and twenty children (52 girls, 70 boys; age range: 3 months-14 years) with cld who attended children's medical center in tehran, iran during the years 1997 through 1999, were enrolled. all viral, metabolic and autoimmune causes of cld were excluded in them, all underwent slit lamp examination for kf ring by an experienced ophthalmologist, and liver biopsy done on all of them. in addition to the routine histopathologic examination, the liver biopsy specimen was checked for its copper content with proton-induced x-ray method (pix-e). results: eight (6.6%, 4 girls, 4 boys, age: 6 to 14 years) of the 122 children with cld had no identifiable cause despite extensive evaluation. all 8 had cirrhosis on liver biopsy and elevated hepatic copper content (mean 31 times normal). none had kf rings and all had normal serum ceruloplasmin levels. nicc was diagnosed for all by the absence of kf ring, normal serum ceruloplasmin levels and pathognomic histopathologic findings. mean hepatic cu level showed a 7-fold increase in children with cld other than nicc. mean serum ceruloplasmin level was 45 mg/dl in nicc and 31 mg/dl in cld patients. mean 24-hour urinary cu excretion was 225 mg and 76 mg in nicc and cld patients, respectively. all patients with nicc (n=8) had the history of using cooking utensils made of copper. four of these were from one family. conclusion: according to our data 6.6% of iranian children with cld who diagnosed as cryptogenic cirrhosis suffer from nicc, therefore early diagnosis and appropriate treatment with d-penicillamin are important for survival in patients with nicc. hence it is suggested that all children with cryptogenic cirrhosis be assessed for nicc.