多回波T2* MRI鉴别新生儿血色病与其他新生儿肝衰竭病因的价值
本研究回顾性纳入26例≤20周龄肝衰竭婴儿，评估多回波T2* MRI在鉴别新生儿血色病（NH）与其他新生儿肝衰竭（NLF）病因中的价值。结果显示，甲状腺和胰腺铁沉积与NH诊断显著正相关，脾脏铁沉积呈负相关；MRI诊断NH的敏感度100%、特异度89.5%、准确率92.3%。多回波T2* MRI可可靠区分NH与其他NLF病因。
要点
- 甲状腺和胰腺铁沉积是NH的关键影像征象，脾脏相对豁免。
- 肝铁沉积与NH诊断仅呈弱正相关，不能单独依靠肝脏。
- 多回波T2* MRI诊断NH敏感度100%、特异度89.5%，可作为无创鉴别工具。
英文原文（摘要）· 点击展开
OBJECTIVE: To assess whether multi-echo T2* MRI can differentiate neonatal hemochromatosis (NH) from other causes of neonatal liver failure (NLF) by evaluating siderosis in the liver and extrahepatic organs.
MATERIALS AND METHODS: This retrospective study evaluated 26 infants ≤ 20 weeks of age, who underwent MRI with Gradient-Recalled (GRE) multi-echo T2* sequence for liver failure. Two radiologists noted the degree of siderosis in the liver, pancreas, thyroid, spleen and renal cortex using a semiquantitative scale. Kendall's tau was used to assess the correlation between siderosis grades and final diagnosis. Consensus review by hepatologist, neonatologist, and pathologist using integrated clinical, biochemical, imaging and histopathologic data served as the reference standard for the final diagnosis.
RESULTS: Of 26 patients, 7 had NH and 19 had other causes of NLF. Interobserver agreement was highest for liver (κ = 0.97), followed by kidney (κ = 0.87), spleen (κ = 0.84), thyroid (κ = 0.80), and pancreas (κ = 0.73). Significant positive correlations between siderosis grades and NH diagnosis were found for thyroid (Kendall's tau = 0.70, p < 0.01), pancreas (Kendall's tau = 0.67, p < 0.01), and liver (Kendall's tau = 0.42, p = 0.03), while spleen showed a significant negative correlation (Kendall's tau = -0.51, p < 0.01). MRI demonstrated 100% sensitivity, 89.5% specificity, 77.8% positive predictive value, 100% negative predictive value, and 92.3% overall accuracy for NH diagnosis. There were significant differences among groups in R2* values for the pancreas, thyroid and spleen, with no differences in the liver.
CONCLUSION: Multi-echo T2* MRI reliably distinguishes NH from other causes of NLF by revealing significant siderosis in the thyroid and pancreas, with relative sparing of the spleen.
KEY POINTS: Question Neonatal hemochromatosis (NH) is a rare but often fatal condition causing neonatal liver failure (NLF), and differentiating it from other causes of NLF is challenging. Finding Pancreatic and thyroid iron deposition, as seen on MRI, strongly correlated with NH, and splenic iron deposition correlated inversely with NH. Clinical relevance Multi-echo T2* MRI is a highly accurate, non-invasive technique for early differentiation of neonatal hemochromatosis from other liver failure causes, potentially enabling earlier diagnosis of NH and guiding crucial management decisions in affected neonates.
引用
- Veiga-Canuto D, Miserachs M, Siddiqui I, et al. Utility of multi-echo MRI for differentiating neonatal hemochromatosis from other causes of neonatal liver failure. Eur Radiol. 2026. PMID: 42050293. doi:10.1007/s00330-026-12553-0
供执业医师工作参考，不替代临床判断；数值与分级以指南原文为准。