Gibson Kate, Halliday Jane L, Kirby Denise M, Yaplito-Lee Joy, Thorburn David R, Boneh Avihu
Metabolic Service, Genetic Health Services Victoria, Victoria and Royal Children's Hospital, Melbourne, Australia.
Pediatrics. 2008 Nov;122(5):1003-8. doi: 10.1542/peds.2007-3502.
The goals were to examine the frequency of perinatal manifestations of mitochondrial oxidative phosphorylation disorders within a population-based cohort, to characterize these manifestations, to identify a possible association between these manifestations and diagnoses at a later age, and to identify possible associations between perinatal complications and specific disorders.
We conducted a retrospective review of clinical and laboratory records for all patients with definitive oxidative phosphorylation disorders who were diagnosed and treated at the Royal Children's Hospital in Melbourne between 1975 and 2006 (N = 107; male/female ratio: 1.41).
Neonatal presentation was recorded for 32 of 107 patients (male/female ratio: 1:1), including 19 who presented on day 1 of life. Prematurity (gestational age of <37 weeks) was noted for 12.6% of the 107 patients. Of the 85 infants with known birth weights, 24 were in the <or=10th percentile for gestational age (11 with complex I deficiency), and 9 of those (6 with complex I deficiency) were in the <3rd percentile. The most common presenting neonatal symptoms after the first day of life were poor feeding, recurrent vomiting, and failure to thrive. We noted 3 main clinical neonatal forms of oxidative phosphorylation disorders (encephalomyopathic, hepatointestinal, and cardiac). Of the 32 infants, 28 died (13 in the neonatal period). Complex I deficiency was identified for 15 neonates, combined complexes I, III, and IV deficiency for 7 neonates, and combined complexes I and IV deficiency for 3 neonates. No neonates had complex IV deficiency. Six neonates had nuclear mutations, and 2 neonates had the mitochondrial DNA 8993T>G mutation.
Oxidative phosphorylation disorders present commonly in the neonatal period. The combination of nonspecific manifestations such as prematurity and intrauterine growth retardation with early postnatal decompensation or poor feeding or vomiting and persistent lactic acidosis should suggest the possibility of an oxidative phosphorylation disorder.
本研究旨在调查基于人群队列中线粒体氧化磷酸化疾病的围产期表现频率，描述这些表现特征，确定这些表现与后期诊断之间的可能关联，以及确定围产期并发症与特定疾病之间的可能关联。
我们对1975年至2006年间在墨尔本皇家儿童医院确诊并接受治疗的所有明确的氧化磷酸化疾病患者的临床和实验室记录进行了回顾性分析（N = 107；男/女比例：1.41）。
107例患者中有32例记录了新生儿期表现（男/女比例：1:1），其中19例在出生第1天出现症状。107例患者中有12.6%出现早产（孕周<37周）。在85例已知出生体重的婴儿中，24例出生体重处于孕周的≤第10百分位数（11例患有复合体I缺陷），其中9例（6例患有复合体I缺陷）处于<第3百分位数。出生后第1天之后最常见的新生儿症状是喂养困难、反复呕吐和生长发育迟缓。我们注意到氧化磷酸化疾病有3种主要的临床新生儿类型（脑肌病型、肝肠型和心脏型）。32例婴儿中，28例死亡（13例在新生儿期）。15例新生儿被鉴定为复合体I缺陷，7例新生儿为复合体I、III和IV联合缺陷，3例新生儿为复合体I和IV联合缺陷。没有新生儿患有复合体IV缺陷。6例新生儿有核突变，2例新生儿有线粒体DNA 8993T>G突变。
氧化磷酸化疾病在新生儿期很常见。早产和宫内生长迟缓等非特异性表现与出生后早期失代偿或喂养困难、呕吐以及持续性乳酸酸中毒相结合，应提示存在氧化磷酸化疾病的可能性。
