Hampe Christiane S, Polgreen Lynda E, Lund Troy C, McIvor R Scott
Immusoft Corp, Seattle, WA 98103, USA, E-mail:
The Lundquist Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Pediatr Endocrinol Rev. 2020 Aug;17(4):317-326. doi: 10.17458/per.vol17.2020.hpl.dysostosismultiplexhumananimal.
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder, caused by deficiency of α-L-iduronidase, and consequent accumulation of dermatan and heparan sulfates. Severity of the disease ranges from mild (Scheie) to moderate (Hurler-Scheie) to severe (Hurler or MPS-IH). A prominent clinical manifestation of MPS-IH is dysostosis multiplex, a constellation of skeletal abnormalities. We performed a retrospective review comparing manifestations of dysostosis multiplex in patients presenting with MPSIH and relevant animal models. Dog, cat and mouse models of MPS-IH are extensively studied to better understand the pathology of the disease. While all animal models display certain characteristics of human MPSIH, species-specific manifestations must be considered when evaluating skeletal abnormalities. Moreover, some skeletal abnormalities emerge at species-specific developmental stages, e.g. thoracolumbar kyphosis is an early manifestation in humans, while it appears late in the mouse model. The choice of the appropriate diagnostic test is of importance to avoid misleading conclusions.
I型黏多糖贮积症（MPS I）是一种罕见的常染色体隐性疾病，由α-L-艾杜糖醛酸酶缺乏以及随之而来的硫酸皮肤素和硫酸乙酰肝素蓄积所致。该疾病的严重程度从轻度（谢伊综合征）到中度（胡勒-谢伊综合征）再到重度（胡勒综合征或MPS-IH）不等。MPS-IH的一个突出临床表现是多发性骨发育异常，这是一组骨骼异常症状。我们进行了一项回顾性研究，比较了MPSIH患者和相关动物模型中多发性骨发育异常的表现。为了更好地理解该疾病的病理，人们对MPS-IH的犬、猫和小鼠模型进行了广泛研究。虽然所有动物模型都表现出人类MPSIH的某些特征，但在评估骨骼异常时必须考虑物种特异性表现。此外，一些骨骼异常出现在特定物种的发育阶段，例如胸腰椎后凸在人类中是早期表现，而在小鼠模型中则出现较晚。选择合适的诊断测试对于避免得出误导性结论很重要。
