孤立性转氨酶升高儿童中杜氏肌营养不良症/贝克肌营养不良症和庞贝病的发病率：观察性维多利亚研究的结果

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.

作者信息

Kansu Aydan, Kuloglu Zarife, Tümgör Gökhan, Taşkın Didem Gülcü, Dalgıç Buket, Çaltepe Gönül, Demirören Kaan, Doğan Güzide, Tuna Kırsaçlıoğlu Ceyda, Arslan Duran, Işık İshak Abdurrahman, Demir Hülya, Bekem Özlem, Şahin Yasin, Bayrak Nevzat Aykut, Selimoğlu Mukadder Ayşe, Yavuz Sibel, Taşkaya İbrahim Ethem, Altay Derya

机构信息

Department of Pediatrics, Division of Pediatric Gastroenterology, Ankara University School of Medicine, Ankara, Türkiye.

Department of Pediatric Gastroenterology, Çukurova University School of Medicine, Adana, Türkiye.

出版信息

Front Pediatr. 2023 Sep 25;11:1272177. doi: 10.3389/fped.2023.1272177. eCollection 2023.

DOI:10.3389/fped.2023.1272177

PMID:37818166

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10560724/

Abstract

INTRODUCTION

Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.

METHODS

This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.

RESULTS

Overall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD ( < 0.001).

DISCUSSION

Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases.

TRIAL REGISTRATION

Clinicaltrials.gov NCT04120168.

摘要

引言

转氨酶和/或肌酸磷酸激酶升高可能提示潜在的肌肉疾病。因此，本研究旨在确定单纯高转氨酶血症的男童中杜氏肌营养不良症/贝克肌营养不良症（DMD/BMD）以及男童和女童中庞贝病（PD）的发病频率。

方法

这项多中心前瞻性研究纳入了年龄在3至216个月之间、血清丙氨酸转氨酶（ALT）和/或天冬氨酸转氨酶（AST）水平高于正常上限（ULN）2倍且持续≥3个月的患者。排除有已知肝脏或肌肉疾病病史或体格检查结果提示有肝脏疾病的患者。对患者进行肌酸磷酸激酶（CPK）水平筛查，对CPK水平升高的男性患者进行DMD/BMD分子遗传学检测，对男性和女性患者进行PD酶分析。基因分析确诊为PD。分析患者的人口统计学、临床和实验室特征。

结果

总共纳入了589例患者[男性占66.8%，平均年龄63.4个月（标准差：60.5）]。共有251例患者（188例男性和63例女性）CPK水平高于ULN。在评估的患者中，47%（85/182）的男性患者被诊断为DMD/BMD，1%（3/228）的男性和女性患者被诊断为PD。DMD/BMD患者的ALT、AST和CPK水平中位数在统计学上显著更高，可疑的神经症状和之前未被注意到的检查结果比无DMD/BMD或PD的患者更常见（<0.001）。