Screening for Wilson’s disease in acute liver failure: A new scoring system in children

Abstract

BackgroundWilson’s disease (WD) is a rare cause of acute liver failure (ALF) and has a high fatality rate. Rapid and accurate diagnosis is important for ALF because of WD (ALF-WD). Our objective was to establish a simple, rapid, and accurate diagnostic test to distinguish ALF-WD from non-WD ALF (NWDALF) in children.Materials and methodsThe data from all cases with pediatric ALF were retrospectively collected and analyzed. We performed receiver operator characteristics curve (ROC) analysis and confirmed the optimum cut-off points.ResultsFifty-eight patients with pediatric ALF (12 with WD, 46 with other etiologies) were included. Older age was observed in ALF-WD compared to NWDALF (11.16 ± 2.51 years vs. 3.34 ± 3.81 years, p < 0.001). An analysis based on routine biochemical testings revealed that total bilirubin (TBil), direct bilirubin, indirect bilirubin, alanine aminotransferase (ALT), aspartate aminotransferase (AST), AST:ALT ratio, alkaline phosphatase (ALP), ALP:TBil ratio, serum albumin, gamma-glutamyl transferase, cholinesterase, hemoglobin, and platelet were statistically significant between the ALF-WD and NWDALF groups. The optimum cut-off points were obtained through ROC analysis. A scoring system was formed by assigning a score of 1 or 0 to patients who met the 13 cut-off points. Using ROC analysis, we determined a cut-off point of ≥ 6.5 for ALF-WD with 91.7% sensitivity and 97.8% specificity (p < 0.0001). In addition, a best cut-off point of ≥ 1.5 based on only five variables (ALT, AST, AST:ALT ratio, ALP, and ALP:TBil ratio), had 100% sensitivity and 91.3% specificity for ALF-WD (p < 0.0001). Based on this, when age was calculated as the sixth indicator, the best cut-off value of ≥ 2.5 had 100% sensitivity and 97.8% specificity (p < 00.0001).ConclusionOur study developed a new scoring system that consists of simple laboratory tests with good sensitivity and specificity and can be used by clinicians to quickly distinguish ALF-WD from NWDALF in children.

Wilson’s Disease Caused by Previously Undescribed Homozygous Nucleotide Variant of the <i>ATP7B</i> Gene: Clinical Cases

“…4. В результате поиска статей в библиографической базе данных MEDLINE (https://pubmed.ncbi.nlm.nih.gov) обнаружено, что вариант c.2111C>T (p.T704I) гена ATP7B ранее был описан у 3 китайских пациентов с бо лезнью Вильсона, но только в компаунд-гетерозиготном состоянии (вместе с другим патогенным генетическим вариантом) [19][20][21]. Впервые этот генетический вариант зарегистрировали X. Li и соавт.…”

“…(2022) при обследовании 58 детей с острой печеночной недостаточностью (12 с болезнью Вильсона) обнаружили вариант c.2111C>T (p.T704I) (зиготность не указана) у девочки 9 лет. Авторы указали, что пациентка погибла в исходе своего заболевания [21].…”