Shui Yuan, Geng Yipeng, Naini Bita V, Wang Hanlin L
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, USA.
Pediatr Dev Pathol. 2025 Jul-Aug;28(4):273-280. doi: 10.1177/10935266251333007. Epub 2025 Apr 17.
Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder characterized by deficiency of branched-chain α-keto acid dehydrogenase complex. The affected patients can experience severe metabolic intoxication and encephalopathy in the first few years of life. Liver transplantation is an effective long-term treatment. There has been a lack of histologic description of explanted livers from MSUD patients in the literature.
A search of the medical record system was performed for cases carrying a diagnosis of MSUD between January 2003 and May 2024. Eight patients who underwent liver transplantation were identified. Their explanted livers were evaluated and their medical records were extensively reviewed.
The weights of explanted livers were within normal range for patients' age. Histologic examination demonstrated features of nodular regenerative hyperplasia (NRH) in 5 (62.5%) liver explants. Other histologic findings included minimal to mild lymphocytic portal inflammation seen in 6 cases and mild steatosis in 2 cases. A detailed review of clinical histories revealed no signs of portal hypertension or specific underlying conditions conducive to NRH development.
NRH is a frequent histologic finding in explanted livers from MSUD patients, although the underlying etiopathogenesis and clinical implication remain to be elucidated.
枫糖尿症（MSUD）是一种常染色体隐性遗传疾病，其特征为支链α-酮酸脱氢酶复合体缺乏。受影响的患者在生命的头几年可能会经历严重的代谢性中毒和脑病。肝移植是一种有效的长期治疗方法。文献中缺乏对MSUD患者移植肝脏的组织学描述。
对2003年1月至2024年5月期间诊断为MSUD的病例进行病历系统检索。确定了8例接受肝移植的患者。对他们的移植肝脏进行了评估，并对他们的病历进行了全面审查。
移植肝脏的重量在患者年龄的正常范围内。组织学检查显示5例（62.5%）肝移植组织有结节性再生性增生（NRH）特征。其他组织学发现包括6例有轻微至轻度淋巴细胞性门脉炎症，2例有轻度脂肪变性。对临床病史的详细回顾未发现门脉高压迹象或导致NRH发生的特定基础疾病。
NRH是MSUD患者移植肝脏中常见的组织学发现，尽管其潜在的病因和临床意义仍有待阐明。
