Parini Rossella, Furlan Francesca, Notarangelo Luigi, Spinazzola Antonella, Uziel Graziella, Strisciuglio Pietro, Concolino Daniela, Corbetta Carlo, Nebbia Gabriella, Menni Francesca, Rossi Giorgio, Maggioni Marco, Zeviani Massimo
Rare Metabolic Diseases Unit Fondazione Mariani, Pediatric Unit, San Gerardo Hospital, Via Pergolesi 33, 20052 Monza, Italy.
J Hepatol. 2009 Jan;50(1):215-21. doi: 10.1016/j.jhep.2008.08.019. Epub 2008 Oct 31.
BACKGROUND/AIMS: To describe in detail the specific clinical and biological characteristics of three patients with MPV17 gene mutations, a rare hepatocerebral mitochondrial DNA depletion syndrome (MDS) and the positive effects of a novel dietetic treatment based on avoidance of fasting.
We describe the case histories of three members of the same family with MPV17 mutations.
Two patients had a very severe and progressive liver disease: 1 died in the first year of life and the other underwent liver transplantation. The third patient, now 13 years of age, had a milder form of liver disease and developed progressive ataxia. Psychomotor involvement at onset of disease was mild or absent. No patient had severe hyperlactataemia. In vivo functional studies on two patients showed no hyperlactataemia even after intravenous and oral glucose loading, regular fasting hypoglycemia 3-4h after meals and no response to glucagon. Liver function tests improved when patients received continuous iv glucose infusion or were regularly fed every 3h.
These clinical and biochemical features allow us to differentiate patients with MPV17 mutations from other liver MDS and suggest that regular glucose intake at short intervals may be beneficial in slowing the progression of the disease.
背景/目的：详细描述三名患有MPV17基因突变的患者的具体临床和生物学特征，这是一种罕见的肝脑线粒体DNA耗竭综合征（MDS），以及基于避免禁食的新型饮食治疗的积极效果。
我们描述了同一家族中三名携带MPV17突变成员的病史。
两名患者患有非常严重的进行性肝病：1例在生命的第一年死亡，另一例接受了肝移植。第三名患者，现年13岁，患有较轻形式的肝病并发展为进行性共济失调。疾病发作时的精神运动受累轻微或无。没有患者有严重的高乳酸血症。对两名患者的体内功能研究表明，即使在静脉内和口服葡萄糖负荷后，也没有高乳酸血症，饭后3-4小时有规律的空腹低血糖，对胰高血糖素无反应。当患者接受持续静脉葡萄糖输注或每3小时定期喂食时，肝功能测试有所改善。
这些临床和生化特征使我们能够将MPV17突变患者与其他肝脏MDS区分开来，并表明短时间间隔定期摄入葡萄糖可能有利于减缓疾病进展。
