Leng Changsen, Rings Edmond H H M, de Wildt Saskia N, van IJzendoorn Sven C D
Department of Biomedical Sciences of Cells and Systems, section Molecular Cell Biology, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands.
State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Esophageal Cancer Institute, Department of Thoracic Surgery, Sun Yat-sen University Cancer Center, Guangzhou 510060, China.
J Clin Med. 2020 Dec 23;10(1):22. doi: 10.3390/jcm10010022.
Microvillus inclusion disease (MVID) is a rare inherited and invariably fatal enteropathy, characterized by severe intractable secretory diarrhea and nutrient malabsorption. No cure exists, and patients typically die during infancy because of treatment-related complications. The need for alternative treatment strategies is evident. Several pharmacological interventions with variable successes have been tried and reported for individual patients as part of their clinical care. Unfortunately, these interventions and their outcomes have remained hidden in case reports and have not been reviewed. Further, recent advances regarding MVID pathogenesis have shed new light on the outcomes of these pharmacological interventions and offer suggestions for future clinical research and trials. Hence, an inventory of reported pharmacological interventions in MVID, their rationales and outcomes, and a discussion of these in the light of current knowledge is opportune. Together with a discussion on MVID-specific pharmacokinetic, -dynamic, and -genetic concerns that pose unique challenges regarding pharmacological strategies, we envision that this paper will aid researchers and clinicians in their efforts to develop pharmacological interventions to combat this devastating disease.
微绒毛包涵体病（MVID）是一种罕见的遗传性且必然致命的肠病，其特征为严重的顽固性分泌性腹泻和营养物质吸收不良。目前尚无治愈方法，患者通常在婴儿期因治疗相关并发症而死亡。显然需要替代治疗策略。作为临床护理的一部分，已针对个别患者尝试并报告了几种效果各异的药物干预措施。不幸的是，这些干预措施及其结果一直隐藏在病例报告中，未得到综述。此外，关于MVID发病机制的最新进展为这些药物干预措施的结果提供了新的线索，并为未来的临床研究和试验提供了建议。因此，适时地对已报道的MVID药物干预措施、其理论依据和结果进行梳理，并根据当前知识对这些进行讨论。连同对MVID特异性药代动力学、药效学和遗传学问题的讨论，这些问题对药物治疗策略构成了独特挑战，我们预计本文将有助于研究人员和临床医生努力开发对抗这种毁灭性疾病的药物干预措施。
