Department of Pediatrics, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.
Department of Pediatrics, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.
J Pediatr. 2018 May;196:123-128.e1. doi: 10.1016/j.jpeds.2017.12.054. Epub 2018 Feb 27.
To evaluate pregnancy outcomes in pedigrees of neonatal hemochromatosis to determine the spectrum of gestational alloimmune liver disease (GALD) in a large cohort.
We prospectively collected data from women with a prior offspring with proven neonatal hemochromatosis between 1997 and 2015 and analyzed pregnancy outcomes.
The pedigrees from 150 women included 350 gestations with outcomes potentially related to GALD. There were 105 live-born infants without liver disease, 157 live-born infants with liver failure, and 88 fetal losses. Fetal loss occurred in 25% of total gestations. Ninety-seven pedigrees contained a single affected offspring, whereas 53 contained multiple affected offspring. Analysis of these 53 pedigrees yielded a per-pregnancy repeat occurrence rate of 95%. Notably, the first poor outcome occurred in the first pregnancy in 60% of pedigrees. Outcomes of the 157 live-born infants with liver failure were poor: 18% survived, 82% died. Of the 134 live-born infants with treatment data, 20 received intravenous immunoglobulin with or without double-volume exchange transfusion of which 9 (45%) survived; 14 infants (10%) received a liver transplant of which 6 (43%) survived.
GALD is a significant cause of both fetal loss and neonatal mortality with a high rate of disease recurrence in untreated pregnancies at risk. Poor outcomes related to GALD commonly occur in the first gestation, necessitating a high index of suspicion to diagnose this disorder at first presentation.
评估新生儿血色素沉着症家系的妊娠结局，以确定大样本中妊娠期同种免疫性肝疾病（GALD）的范围。
我们于 1997 年至 2015 年期间前瞻性地收集了先前有确诊为新生儿血色素沉着症后代的女性的数据，并分析了妊娠结局。
150 位女性的家系中包括 350 次妊娠结局，这些妊娠结局可能与 GALD 相关。其中 105 例为无肝脏疾病的活产婴儿，157 例为肝衰竭的活产婴儿，88 例为胎儿丢失。胎儿丢失率占总妊娠的 25%。97 个家系中仅有 1 个受影响的后代，而 53 个家系中则有多个受影响的后代。对这 53 个家系的分析得出了每一次妊娠的重复发生率为 95%。值得注意的是，60%的家系首次妊娠即出现不良结局。157 例肝衰竭的活产婴儿结局不佳：18%存活，82%死亡。在有治疗数据的 134 例活产婴儿中，20 例接受了静脉免疫球蛋白治疗，其中 9 例（45%）存活；14 例（10%）接受了肝移植，其中 6 例（43%）存活。
GALD 是胎儿丢失和新生儿死亡率的重要原因，未治疗的高危妊娠中疾病复发率很高。与 GALD 相关的不良结局常发生在首次妊娠，因此首次就诊时需要高度怀疑该疾病的诊断。
