Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson's disease in Chinese children

Joannie Hui, Yuet-Ping Yuen, Chung-Mo Chow, Josephine Chong, Grace Chiang, Chi Keung  Cheung, Eric LK Law, Chloe Miu Mak, Ching-Wan Lam, Patrick MP Yuen, Nelson LS Tang

Hong Kong, China

Author Affiliations: Department of Pediatrics (Hui J, Chow CM, Chong J, Chiang G, Yuen PMP), Joint Metabolic Clinic (Hui J, Chong J, Chiang G, Law ELK, Tang NLS), Department of Chemical Pathology (Yuen YP, Cheung CK, Law ELK, Tang NLS), Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong; Kowloon West Cluster Laboratory Genetic Service, Department of Pathology, Princess Margaret Hospital, Hong Kong (Mak CM); Department of Pathology, Queen Mary Hospital, The University of Hong Kong, Hong Kong (Lam CW)

Corresponding Author: Joannie Hui, MD, 6/F, Clinical Sciences Building, Department of Pediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong, China (Tel: 852-2632-2982; Fax: 852-2636-0020; Email: joanniehui@cuhk.edu.hk)

doi: 10.1007/s12519-013-0436-y

Background: Recent studies presented a contradictory approach for the investigation of pediatric patients with an isolated increase in alanine transaminase. While classical teaching advised for a thorough investigation, recent studies suggested the yield on further investigation was low and thus not necessary. Yet the approach to the same clinical problem may need to be different due to variable disease prevalence rates among different ethnic populations. For the population with a higher prevalence rate of genetic liver diseases like Wilson's disease, an abnormal liver function may be the first presenting feature for some patients.

Methods: We reviewed 10 Chinese children with Wilson's disease who were diagnosed at a presymptomatic stage because of an isolated persistent elevation of alanine transaminase.

Results: All 10 patients did not have overt symptoms of liver impairment or neurological deficit. They were picked up incidentally with an abnormal liver function test. All patients were started on treatment shortly after diagnosis, and they remained well and symptom-free on the latest follow-up.

Conclusions: This case series illustrated that an isolated persistent elevation of alanine transaminase is an important clue to the early diagnosis of pre-symptomatic Wilson's disease. It is particularly relevant in the Asian population where the disease is more prevalent.

Key words: alanine transaminase; isolated persistent elevation; Wilson's disease

World J Pediatr 2013;9(4):361-364