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Wilson's disease patients with normal ceruloplasmin levels.
Turk J Pediatr. 1999 Jan-Mar; 41(1):99-102.TJ

Abstract

Wilson's disease, an inborn defect of copper metabolism, is a fatal disease unless specific treatment is given. Hepatic presentation mimics almost all kinds of liver disease and the diagnosis is sometimes problematic. The diagnosis is based on clinical findings, family history, presence of Kayser-Fleischer rings, and results of key laboratory tests such as low serum ceruloplasmin level, increased urinary copper excretion and hepatic copper content. We report four patients with Wilson's disease with hepatic manifestations with unknown there were difficulties in making the diagnosis because of normal serum ceruloplasmin levels. Inspite of normal ceruloplasmin levels and absence of Kayser-Fleischer rings, strong family history suggested Wilson's disease and the diagnosis was confirmed by increased urinary and hepatic copper amounts.

Authors+Show Affiliations

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10770682

Citation

Yüce, A, et al. "Wilson's Disease Patients With Normal Ceruloplasmin Levels." The Turkish Journal of Pediatrics, vol. 41, no. 1, 1999, pp. 99-102.
Yüce A, Koçak N, Ozen H, et al. Wilson's disease patients with normal ceruloplasmin levels. Turk J Pediatr. 1999;41(1):99-102.
Yüce, A., Koçak, N., Ozen, H., & Gürakan, F. (1999). Wilson's disease patients with normal ceruloplasmin levels. The Turkish Journal of Pediatrics, 41(1), 99-102.
Yüce A, et al. Wilson's Disease Patients With Normal Ceruloplasmin Levels. Turk J Pediatr. 1999 Jan-Mar;41(1):99-102. PubMed PMID: 10770682.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Wilson's disease patients with normal ceruloplasmin levels. AU - Yüce,A, AU - Koçak,N, AU - Ozen,H, AU - Gürakan,F, PY - 2000/4/19/pubmed PY - 2000/4/29/medline PY - 2000/4/19/entrez SP - 99 EP - 102 JF - The Turkish journal of pediatrics JO - Turk J Pediatr VL - 41 IS - 1 N2 - Wilson's disease, an inborn defect of copper metabolism, is a fatal disease unless specific treatment is given. Hepatic presentation mimics almost all kinds of liver disease and the diagnosis is sometimes problematic. The diagnosis is based on clinical findings, family history, presence of Kayser-Fleischer rings, and results of key laboratory tests such as low serum ceruloplasmin level, increased urinary copper excretion and hepatic copper content. We report four patients with Wilson's disease with hepatic manifestations with unknown there were difficulties in making the diagnosis because of normal serum ceruloplasmin levels. Inspite of normal ceruloplasmin levels and absence of Kayser-Fleischer rings, strong family history suggested Wilson's disease and the diagnosis was confirmed by increased urinary and hepatic copper amounts. SN - 0041-4301 UR - https://www.unboundmedicine.com/medline/citation/10770682/Wilson's_disease_patients_with_normal_ceruloplasmin_levels_ L2 - https://medlineplus.gov/wilsondisease.html DB - PRIME DP - Unbound Medicine ER -