Seneca S, De Meirleir L, De Schepper J, Balduck N, Jochmans K, Liebaers I, Lissens W
Department of Medical Genetics, Academisch Ziekenhuis (AZ-VUB), Vrije Universiteit Brussel, Brussels, Belgium.
Clin Genet. 1997 May;51(5):338-42. doi: 10.1111/j.1399-0004.1997.tb02484.x.
Human mitochondrial DNA (mt DNA) lesions can cause a heterogeneous group of mitochondrial degenerative disorders. We report on a 5-year-old patient suffering from the full-blown picture of Pearson syndrome. His symptoms started in the first year of life with failure to thrive, followed by chronic diarrhoea and lactic acidosis at 18 months of age. Analysis of mitochondrial DNA revealed large amounts of mt DNA molecules with a 2.7 kb deletion in all tissues examined. The diagnosis of Pearson syndrome was made initially in the absence of haematological disturbances. In the following months neutropenia, sideroblastic anaemia and hypoparathyroidism developed. Daily administration of dichloroacetate (DCA) and bicarbonate controls the lactic acidosis, while episodic treatments with filgastrim (Neupogen) reverse episodes of severe neutropenia. Calcium and vitamin D supplementation compensate for the hypoparathyroidism. Chronic administration of DCA and supportive treatment for a long period help to stabilize patients with multiorgan dysfunction.
人类线粒体DNA（mtDNA）损伤可导致一组异质性的线粒体退行性疾病。我们报告了一名5岁的患有典型皮尔逊综合征的患者。他的症状始于生命的第一年，表现为发育不良，随后在18个月大时出现慢性腹泻和乳酸酸中毒。线粒体DNA分析显示，在所有检测的组织中都有大量缺失2.7 kb的mtDNA分子。皮尔逊综合征的诊断最初是在没有血液学紊乱的情况下做出的。在接下来的几个月里，出现了中性粒细胞减少、铁粒幼细胞性贫血和甲状旁腺功能减退。每日给予二氯乙酸（DCA）和碳酸氢盐可控制乳酸酸中毒，而使用非格司亭（惠尔血）进行间歇性治疗可逆转严重中性粒细胞减少发作。补充钙和维生素D可弥补甲状旁腺功能减退。长期慢性给予DCA和支持性治疗有助于稳定多器官功能障碍患者的病情。
