Atomic absorption spectrometry in Wilson's disease and its comparison with other laboratory tests and paraclinical findings

Wilson's disease [WD] is an autosomal recessive disease with genetic abnormality on chromosome 13 causing defect in copper metabolism and increased copper concentration in liver, central nervous system and other organs, which causes different clinical manifestations. The aim of this study was to determine the sensitivity of different clinical and paraclinical tests for diagnosis of Wilson's disease. Paraffin blocks of liver biopsy from 41 children suspicious of WD were collected. Hepatic copper concentrations were examined with atomic absorption spectrophotometry [Australian GBC, model: PAL 3000]. Fifteen specimens had hepatic copper concentration [dry weight] more than 250 micro g/g. Clinical and laboratory data and histologic slides of liver biopsies of these 15 children were reviewed retrospectively. Liver tissue was examined for staging and grading of hepatic involvement and also stained with rubeonic acid method for copper. Patients were 5-15 years old [mean age=9.3 years, standard deviation=2.6] with slight male predominance [9/15=60%]. Five [33%] patients were 10 years old. Three [20%] of them were referred for icterus, 8 [54%] because of positive family history, 2 [13%] due to abdominal pain and 2 [13%] because of hepatosplenomegaly and ascites. Serum AST and ALT levels were elevated at the time of presentation in all patients. In liver biopsy, histological grade and stage was 0-8 and 0-6 respectively, 2 [13%] had cirrhosis, 1 [7%] had normal biopsy and 12 [80%] showed chronic hepatitis. Hepatic copper concentrations were between 250 and 1595 micro g/g dry weight. The sensitivity of various tests were 85% for serum copper, 83% for serum ceruloplasmin, 53% for urinary copper excretion, 44% for presence of KF ring and 40% for rubeonic acid staining on liver biopsies. None of the tests stated in the article were highly sensitive for diagnosis of WD, so we suggest that diagnosis should be based on combination of family history, physical examination and different tests

role of electron microscopy for the diagnosis of childhood glomerular diseases

Optimum diagnosis of glomerulopathies requires light microscopy, immunofluorescence and electron microcopy. In fact electron microscopy has a confirmatory role in glomerular diseases. It provides more information for patient management and can rule out other diseases. The goal of the present study is analysis the necessity of electron microscopy for the diagnosis of childhood glomerulopathies. 134 cases of renal biopsy with some clinical data retrospectively were reviewed. The contribution of electron microscopy to the final diagnosis was graded as necessary - diagnosis could not be reached without it, supportive - it increased the level of confidence in the final diagnosis and noncontributory - the diagnosis don't need electron microscopy for confirmation. The contribution of electron microscopy to the final diagnosis was necessary in 51 cases [38%], supportive in 40 cases [=30%] and noncontributory in 43 cases [32%]. In conclusion the results showed in about 68% of childhood glomerulopathies the ultrastructural study was necessary or supportive, so electron microscopy still remains an important tool in diagnosis of childhood glomerulopathies

Familial lecithin-cholesterol acyltransferase deficiency

Familial lecithin-cholesterol acyltransferase deficiency is an uncommon autosomal recessive disorder from a heritable defect in esterification of plasma cholesterol. In 1968, the disease was described by Gjone and Norum in Norway. Our case was a 38-year-old woman. Her disease was manifested by presence of lower extremities edema, proteinuria, corneal opacities, increased plasma cholesterol, and hemolytic anemia. Suspicion of the disease was based on renal biopsy, which revealed mesangial expansion and capillary wall widening with clusters of foamy cells in the mesangium. Immunofluorescence study was nonspecific, but specific findings of electron microscopy showed deposition of lipid in the glomerular basement membrane and mesangium. This is the first report of lecithin-cholesterol acyltransferase deficiency in Iran. The diagnosis was confirmed by a low high-density lipoprotein cholesterol concentration, decreased activity of lecithin-cholesterol acyltransferase in plasma, and positive familial history of the disease