D'Angelo Roberto, Rinaldi Rita, Carelli Valerio, Boschetti Elisa, Caporali Leonardo, Capristo Mariantonietta, Casali Carlo, Cenacchi Giovanna, Gramegna Laura Ludovica, Lodi Raffaele, Pinna Antonio Daniele, Pironi Loris, Stanzani Marta, Tonon Caterina, D'Alessandro Roberto, De Giorgio Roberto
Department of Surgical and Medical Sciences (DIMEC), University of Bologna, Bologna, Italy.
Neurology Unit, St. Orsola-Malpighi Hospital, Bologna, Italy.
Neurol Sci. 2016 Jul;37(7):1149-51. doi: 10.1007/s10072-016-2552-7. Epub 2016 Mar 23.
Mitochondrial neuro-gastro-intestinal encephalomyopathy (MNGIE) is a rare and unavoidably fatal disease due to mutations in thymidine phosphorylase (TP). Clinically it is characterized by gastrointestinal dysfunction, malnutrition/cachexia and neurological manifestations. MNGIE diagnosis remains a challenge mainly because of the complexity and rarity of the disease. Thus, our purposes were to promote a better knowledge of the disease in Emilia-Romagna region (ERR) by creating an accurate and dedicated network; to establish the minimal prevalence of MNGIE in Italy starting from ERR. Blood TP activity level was used as screening test to direct candidates to complete diagnostic work-up. During the study period of 1 year, only 10/71 units of ERR recruited 14 candidates. Their screening did not show TP activity changes. An Italian patient not resident in ERR was actually proved to have MNGIE. At the end of study in Italy there were nine cases of MNGIE; thus, the Italian prevalence of the disease is ~0.15/1,000,000 as a gross estimation. Our study confirms that MNGIE diagnosis is a difficult process which reflects the rarity of the disease and, as a result, a low level of awareness among specialists and physicians. Having available novel therapeutic options (e.g., allogenic hematopoietic stem cell transplantation and, more recently, liver transplantation) and an easy screening test, an early diagnosis should be sought before tissue damage occurs irreversibly.
线粒体神经胃肠性脑肌病（MNGIE）是一种由胸苷磷酸化酶（TP）突变引起的罕见且不可避免会致命的疾病。临床上，其特征为胃肠功能障碍、营养不良/恶病质以及神经学表现。MNGIE的诊断仍然是一项挑战，主要是因为该疾病的复杂性和罕见性。因此，我们的目的是通过创建一个准确且专门的网络，来促进对艾米利亚 - 罗马涅地区（ERR）该疾病的更好了解；并从ERR开始确定意大利MNGIE的最低患病率。血液TP活性水平用作筛查测试，以指导候选人完成全面的诊断检查。在为期1年的研究期间，ERR的71个单位中只有10个招募了14名候选人。他们的筛查未显示TP活性变化。一名不住在ERR的意大利患者实际上被证实患有MNGIE。在意大利的研究结束时，有9例MNGIE病例；因此，粗略估计该疾病在意大利的患病率约为0.15/1,000,000。我们的研究证实，MNGIE的诊断是一个困难的过程，这反映了该疾病的罕见性，结果是专家和医生的认识水平较低。有了新的治疗选择（例如，同种异体造血干细胞移植以及最近的肝移植）和一种简单的筛查测试，应该在组织损伤发生不可逆之前寻求早期诊断。
