Agarwal R, Feldman G L, Poulik J, Stockton D W, Sood B G
Carman and Ann Adams Department of Pediatrics, Wayne State University, Hutzel Women's Hospital & Children's Hospital of Michigan, Detroit, MI, USA.
Carman and Ann Adams Department of Pediatrics, Wayne State University, Hutzel Women's Hospital & Children's Hospital of Michigan, Detroit, MI, USA Department of Pathology, Wayne State University, Hutzel Women's Hospital & Children's Hospital of Michigan, Detroit, MI, USA Center for Molecular Medicine and Genetics, Wayne State University, Hutzel Women's Hospital & Children's Hospital of Michigan, Detroit, MI, USA.
J Neonatal Perinatal Med. 2014 Jan 1;7(3):247-51. doi: 10.3233/NPM-14814004.
Persistent pulmonary hypertension of the newborn (PPHN) results from disruption of the normal fetal-neonatal circulatory transition and may be associated with meconium aspiration, group B streptococcal sepsis, pneumonia, respiratory distress syndrome, congenital diaphragmatic hernia and pulmonary hypoplasia. Seventeen percent of cases are considered idiopathic since there is no identifiable cause. Although it is recognized that acidosis and hypoxia from any cause in neonates may produce pulmonary vasoconstriction and maintain pulmonary hypertension, PPHN has not been reported in inborn errors of metabolism (IEM) associated with metabolic acidosis like methyl malonic acidemia (MMA). We report the first case in the literature of MMA presenting concomitantly with PPHN. Undiagnosed IEMs, like MMA, could represent a subset of idiopathic cases of PPHN. Infants and neonates have a limited repertoire with which to respond to an overwhelming illness. Because metabolic diseases are rare, they are considered only after excluding more common causes of neonatal distress. PPHN is therefore more likely to be attributed to meconium aspiration, sepsis, pneumonia or respiratory distress syndrome than to an IEM. The advent of expanded newborn screening has made pre-symptomatic diagnosis of several IEMs including MMA possible. However, not all IEMs are identified, and in some instances, an infant who has an IEM may become ill before the results of the newborn screen become available. Early diagnosis of IEM is crucial to prevent catastrophic consequences and the awareness of an association with PPHN would lead to an aggressive search of an underlying IEM and its management.
新生儿持续性肺动脉高压（PPHN）是由正常胎儿 - 新生儿循环过渡中断引起的，可能与胎粪吸入、B族链球菌败血症、肺炎、呼吸窘迫综合征、先天性膈疝和肺发育不全有关。17%的病例被认为是特发性的，因为没有可识别的病因。尽管人们认识到新生儿因任何原因导致的酸中毒和缺氧可能会引起肺血管收缩并维持肺动脉高压，但尚未有与代谢性酸中毒相关的先天性代谢缺陷病（IEM）如甲基丙二酸血症（MMA）并发PPHN的报道。我们报告了文献中首例MMA与PPHN同时出现的病例。未被诊断的IEM，如MMA，可能是PPHN特发性病例的一个子集。婴儿和新生儿应对严重疾病的能力有限。由于代谢性疾病罕见，只有在排除新生儿窘迫的更常见原因后才会考虑。因此，PPHN更可能归因于胎粪吸入、败血症、肺炎或呼吸窘迫综合征，而不是IEM。扩大新生儿筛查的出现使得包括MMA在内的几种IEM的症状前诊断成为可能。然而，并非所有IEM都能被识别，在某些情况下，患有IEM的婴儿可能在新生儿筛查结果出来之前就生病了。IEM的早期诊断对于预防灾难性后果至关重要，认识到其与PPHN的关联将促使积极寻找潜在的IEM并进行管理。
