Rudolph Bryan, Rivas Yolanda, Kulak Shulamit, Pan Debra, Ewart Michelle, Levin Terry L, Thompson John F, Scharbach Kathryn
Division of Pediatric Gastroenterology and Nutrition, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA.
Division of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA.
Acta Paediatr. 2015 Dec;104(12):e557-63. doi: 10.1111/apa.13176.
Nonalcoholic fatty liver disease (NAFLD) is associated with obesity and affects roughly 10% of children. However, NAFLD is often diagnosed by exclusion - that is, obese children with an elevated alanine aminotransferase (ALT) are screened for other liver diseases in the absence of a biopsy. This testing is nonstandardized, and professional society recommendations differ. This study examines the yield of testing for disorders other than NAFLD in this patient population.
A retrospective study was performed in 120 obese, asymptomatic, noncholestatic children with an ALT ≥40 U/L and additional diagnostic testing.
No patients were found to have Wilson's, hepatitis A, hepatitis B, hepatitis C, cytomegalovirus, alpha-1 antitrypsin deficiency, autoimmune hepatitis, celiac disease or Epstein-Barr virus. Only one patient (1/120) was identified with definite disease other than NAFLD, which was muscular dystrophy. The positive predictive value of a screening test was 5%, and the specificity was 97%. Of 70 children with an abdominal ultrasound, no significant abnormalities were identified.
Extensive testing in asymptomatic, noncholestatic, obese children with an elevated ALT may be of limited diagnostic value and false-positive tests are likely. Large, prospective studies are needed to help focus the work up in this patient population.
非酒精性脂肪性肝病（NAFLD）与肥胖相关，约影响10%的儿童。然而，NAFLD通常通过排除法诊断——即对丙氨酸氨基转移酶（ALT）升高的肥胖儿童在未进行活检的情况下筛查其他肝脏疾病。这种检测未标准化，专业学会的建议也存在差异。本研究探讨了在该患者群体中对NAFLD以外疾病进行检测的收益。
对120名ALT≥40 U/L且进行了额外诊断检测的肥胖、无症状、非胆汁淤积性儿童进行了一项回顾性研究。
未发现患者患有威尔逊病、甲型肝炎、乙型肝炎、丙型肝炎、巨细胞病毒感染、α-1抗胰蛋白酶缺乏症、自身免疫性肝炎、乳糜泻或爱泼斯坦-巴尔病毒感染。仅1名患者（1/120）被确诊患有NAFLD以外的明确疾病，即肌肉萎缩症。筛查试验的阳性预测值为5%，特异性为97%。在70名接受腹部超声检查的儿童中，未发现明显异常。
对ALT升高的无症状、非胆汁淤积性肥胖儿童进行广泛检测可能诊断价值有限，且可能出现假阳性检测结果。需要进行大型前瞻性研究，以帮助确定该患者群体的检查重点。
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