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Wilson's disease with hepatic presentation in childhood.
Mymensingh Med J. 2007 Jan; 16(1):29-32.MM

Abstract

Diagnosis of Wilson's disease with hepatic presentation in childhood using clinical and common laboratory parameters is still challenging and is often missed or delayed. The aim of the study was to document the clinical and laboratory parameters of hepatic presentation of Wilson's disease in children. The study was conducted at a tertiary-care hospital in a developing country. Clinical and common laboratory parameters were recorded in 32 Wilson's disease children with hepatic presentation. The diagnosis was based on positive family history, Kayser-Fleischer ring, low serum ceruloplasmin level, elevated basal urinary copper excretion and favorable response to therapy with D-penicillamine. Mean age+/-SD at presentation was 9+/-2.97 years and 21 (65.6%) were boys. Chronic liver disease (21; 65.6%) followed by fulminant hepatic failure 1(6; 18.8%) were the commonest presentation. In the whole group, Kayser-Fleischer ring was found in 21 (65.6%), low serum ceruloplasmin in 16 (50%) and elevated basal urinary copper excretion in all 32 (100%) children. Diagnosis of Wilson's disease was made at presentation on the basis of i) Kayser-Fleischer ring, low serum ceruloplasmin, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 11 (34.4%), ii) Kayser-Fleischer ring, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 10 (31.2%), iii) elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 6 (18.8%) and iv) low ceruloplasmin, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 5 (15.6%) children. Wilson's disease can not be excluded in children presenting with hepatic involvement using the commonly practiced clinical and laboratory parameters. A combination of various clinical and laboratory parameters were used for the diagnosis of Wilson's disease in the studied children with hepatic presentation.

Authors+Show Affiliations

Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

17344776

Citation

Karim, M B., et al. "Wilson's Disease With Hepatic Presentation in Childhood." Mymensingh Medical Journal : MMJ, vol. 16, no. 1, 2007, pp. 29-32.
Karim MB, Rahman MM, Islam MS. Wilson's disease with hepatic presentation in childhood. Mymensingh Med J. 2007;16(1):29-32.
Karim, M. B., Rahman, M. M., & Islam, M. S. (2007). Wilson's disease with hepatic presentation in childhood. Mymensingh Medical Journal : MMJ, 16(1), 29-32.
Karim MB, Rahman MM, Islam MS. Wilson's Disease With Hepatic Presentation in Childhood. Mymensingh Med J. 2007;16(1):29-32. PubMed PMID: 17344776.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Wilson's disease with hepatic presentation in childhood. AU - Karim,M B, AU - Rahman,M M, AU - Islam,M S, PY - 2007/3/9/pubmed PY - 2007/6/7/medline PY - 2007/3/9/entrez SP - 29 EP - 32 JF - Mymensingh medical journal : MMJ JO - Mymensingh Med J VL - 16 IS - 1 N2 - Diagnosis of Wilson's disease with hepatic presentation in childhood using clinical and common laboratory parameters is still challenging and is often missed or delayed. The aim of the study was to document the clinical and laboratory parameters of hepatic presentation of Wilson's disease in children. The study was conducted at a tertiary-care hospital in a developing country. Clinical and common laboratory parameters were recorded in 32 Wilson's disease children with hepatic presentation. The diagnosis was based on positive family history, Kayser-Fleischer ring, low serum ceruloplasmin level, elevated basal urinary copper excretion and favorable response to therapy with D-penicillamine. Mean age+/-SD at presentation was 9+/-2.97 years and 21 (65.6%) were boys. Chronic liver disease (21; 65.6%) followed by fulminant hepatic failure 1(6; 18.8%) were the commonest presentation. In the whole group, Kayser-Fleischer ring was found in 21 (65.6%), low serum ceruloplasmin in 16 (50%) and elevated basal urinary copper excretion in all 32 (100%) children. Diagnosis of Wilson's disease was made at presentation on the basis of i) Kayser-Fleischer ring, low serum ceruloplasmin, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 11 (34.4%), ii) Kayser-Fleischer ring, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 10 (31.2%), iii) elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 6 (18.8%) and iv) low ceruloplasmin, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 5 (15.6%) children. Wilson's disease can not be excluded in children presenting with hepatic involvement using the commonly practiced clinical and laboratory parameters. A combination of various clinical and laboratory parameters were used for the diagnosis of Wilson's disease in the studied children with hepatic presentation. SN - 1022-4742 UR - https://www.unboundmedicine.com/medline/citation/17344776/Wilson's_disease_with_hepatic_presentation_in_childhood_ L2 - https://medlineplus.gov/wilsondisease.html DB - PRIME DP - Unbound Medicine ER -