ATOMIC ABSORPTION SPECTROMETRY IN WILSON’S DISEASE AND ITS COMPARISON WITH OTHER LABORATORY TESTS AND PARACLINICAL FINDINGS

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MAHJOUB FATEMEH; FEREIDUNI RANA; JAHANZAD ISA; FARAHMAND FATEMEH; MONAJEMZADEH MARYAM; NAJAFI MEHRI

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Journal: Iranian Journal of Pediatrics Year:2012 | Volume:22 | Issue:1 Page(s): 52-56

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Title

ATOMIC ABSORPTION SPECTROMETRY IN WILSON’S DISEASE AND ITS COMPARISON WITH OTHER LABORATORY TESTS AND PARACLINICAL FINDINGS

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Keywords

WILSON'S DISEASE

ATOMIC ABSORPTION SPECTROMETRY

URINARY COPPER

LIVER BIOPSY

Abstract

Objective: 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.Methods: 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 250mg/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.Findings: 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 mg/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.Conclusion: 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.

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APA: Copy

MAHJOUB, FATEMEH, FEREIDUNI, RANA, JAHANZAD, ISA, FARAHMAND, FATEMEH, MONAJEMZADEH, MARYAM, & NAJAFI, MEHRI. (2012). ATOMIC ABSORPTION SPECTROMETRY IN WILSON’S DISEASE AND ITS COMPARISON WITH OTHER LABORATORY TESTS AND PARACLINICAL FINDINGS. IRANIAN JOURNAL OF PEDIATRICS, 22(1), 52-56. SID. https://sid.ir/paper/575738/en

Vancouver: Copy

MAHJOUB FATEMEH, FEREIDUNI RANA, JAHANZAD ISA, FARAHMAND FATEMEH, MONAJEMZADEH MARYAM, NAJAFI MEHRI. ATOMIC ABSORPTION SPECTROMETRY IN WILSON’S DISEASE AND ITS COMPARISON WITH OTHER LABORATORY TESTS AND PARACLINICAL FINDINGS. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2012;22(1):52-56. Available from: https://sid.ir/paper/575738/en

IEEE: Copy

FATEMEH MAHJOUB, RANA FEREIDUNI, ISA JAHANZAD, FATEMEH FARAHMAND, MARYAM MONAJEMZADEH, and MEHRI NAJAFI, “ATOMIC ABSORPTION SPECTROMETRY IN WILSON’S DISEASE AND ITS COMPARISON WITH OTHER LABORATORY TESTS AND PARACLINICAL FINDINGS,” IRANIAN JOURNAL OF PEDIATRICS, vol. 22, no. 1, pp. 52–56, 2012, [Online]. Available: https://sid.ir/paper/575738/en

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