Division of Neonatology, Intermountain Healthcare, Salt Lake City, UT 84403, USA.
J Perinatol. 2010 Mar;30(3):233-6. doi: 10.1038/jp.2009.118.
Neonatal hemolytic jaundice is a risk factor for kernicterus. Pyruvate kinase (PK) deficiency is a rare cause of neonatal hemolytic jaundice, with a prevalence estimated at 1 case per 20,000 births in the United States, but with a higher prevalence among the Amish communities in Pennsylvania and Ohio. We discovered four neonates with PK deficiency born in a small community of polygamists. All four had early, severe, hemolytic jaundice. PK deficiency should be considered in neonates with early hemolytic, Coombs-negative, non-spherocytic jaundice, particularly in communities with considerable consanguinity. Such cases should be recognized early and managed aggressively to prevent kernicterus.
新生儿溶血性黄疸是核黄疸的一个危险因素。丙酮酸激酶（PK）缺乏症是新生儿溶血性黄疸的一个罕见原因，据估计，在美国每 20000 例出生中就有 1 例，但在宾夕法尼亚州和俄亥俄州的阿米什社区中发病率更高。我们发现了 4 例出生在一个小的一夫多妻制社区的 PK 缺乏症新生儿。这 4 例患儿均有早期、严重的溶血性黄疸。对于早期出现溶血性、抗人球蛋白试验阴性、非球形红细胞性黄疸的新生儿，应考虑 PK 缺乏症，特别是在有明显血缘关系的社区。此类病例应及早识别并积极治疗，以预防核黄疸。
