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

Abstract

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.

Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China

“…For individuals with one or no ATP7B mutation by gene sequencing, there is a practical and accurate tool for screening in WD families: Relative Exchangeable Copper (REC), which can eliminate 15% of WD patients (17). In addition, in terms of Chinese children and even in an Asian population, a persistently isolated elevation of alanine transaminase contributes to early diagnosis for clinically asymptomatic patients with WD (18). 565 566 567 568 569 570 571 572 573 574 575 576 577 578 579 580 581 582 583 584 585 586 587 588 589 590 591 592 593 594 …”

Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson’s disease

“…Thus, WD is often misdiagnosed, especially when the symptoms are not present or atypical. In addition, clinical manifestations of WD are usually not typical [1,4,10] and early diagnosis is more difficult in children. Thus, clinicians should use all possible clues and genetic detection to reduce the misdiagnosis rate.…”

“…August 15, 2015 . www.wjpch.com by Hui et al [10] of 10 children with pre-symptomatic WD, ALT increase was identified as an important clue for early detection of WD and serum copper was reduced. The levels of serum copper were also reduced in 68.9% of 133 WD patients according to Lin et al, [11] in 15 of 16 WD patients according to El Balkhi et al [12] In England, Coffey et al [2] found a pathogenic mutation of the ATP7B gene in 98% of 181 WD patients, suggesting that WD could be accurately diagnosed by genetic testing.…”

Reference intervals of spot urine copper excretion in preschool children and potential application in pre-symptomatic screening of Wilson’s disease

“…Six WD patients who were diagnosed before the age of 11 and had been followed up in outpatient clinic were invited to participate. Their diagnosis had been confirmed by mutation analysis of the ATP7B gene (10). 2-3 spot urine samples of the same day in addition to a next day standard 24-hour urine sample for copper excretion monitoring were collected.…”

“…Currently, presymptomatic patients were largely picked up by family screening after index cases had been diagnosed. While others were solely relied on clinical vigilance of the paediatricians when managing patients with unexplained symptoms and laboratory results, such as persistent elevation of liver enzymes (10). However, no biomarker suitable for large-scale case screening is available though some attempts had been reported (5).…”