PDF(Pubmed)
Abstract：
Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked disorder arising from mutations in the SLC16A2 gene and resulting from dysfunctional thyroid hormone transport. This disorder is characterized by profound neurodevelopmental delay and motor disability due to a lack of thyroid hormone in the brain, and coexisting endocrinological symptoms, due to chronic thyrotoxicosis, resulting from elevated thyroid hormone outside the central nervous system (CNS). In February 2024, we reviewed the published literature to identify relevant articles reporting on the current unmet needs of patients with MCT8 deficiency. There are several main challenges in the diagnosis and treatment of MCT8 deficiency, with decreased awareness and recognition of MCT8 deficiency among healthcare professionals (HCPs) associated with misdiagnosis and delays in diagnosis. Diagnostic delay may also be attributed to other factors, including the complex symptomology of MCT8 deficiency only becoming apparent several months after birth and pathognomonic serum triiodothyronine (T3) testing not being routinely performed. For patients with MCT8 deficiency, multidisciplinary team care is vital to optimize the support provided to patients and their caregivers. Although there are currently no approved treatments specifically for MCT8 deficiency, earlier identification and diagnosis of this disorder enables earlier access to supportive care and developing treatments focused on improving outcomes and quality of life for both patients and caregivers.
摘要：
单羧酸转运蛋白8（MCT8）缺乏是一种罕见的，由SLC16A2基因突变引起并由甲状腺激素转运功能失调引起的X连锁疾病。这种疾病的特征是由于大脑中缺乏甲状腺激素而导致严重的神经发育迟缓和运动障碍，和共存的内分泌症状，由于慢性甲状腺毒症,由于中枢神经系统（CNS）外的甲状腺激素升高。2024年2月，我们回顾了已发表的文献，以确定有关MCT8缺乏症患者当前未满足需求的相关文章。MCT8缺乏症的诊断和治疗存在几个主要挑战，与误诊和诊断延迟相关的医疗保健专业人员（HCP）对MCT8缺陷的认识和认识下降。诊断延迟也可能归因于其他因素，包括MCT8缺乏症的复杂症状学仅在出生后几个月才变得明显，以及未常规进行的病理学血清三碘甲状腺原氨酸（T3）检测。对于MCT8缺乏的患者，多学科团队护理对于优化为患者及其护理人员提供的支持至关重要。尽管目前尚无专门针对MCT8缺乏症的批准治疗方法，该疾病的早期识别和诊断可以更早地获得支持性治疗,并开发专注于改善患者和护理人员结局和生活质量的治疗方法.
