Ho Bernice, MacKenzie Jennifer, Walia Jagdeep, Geraghty Michael, Smith Graeme, Nedvidek Julie, Guerin Andrea
Faculty of Arts and Science Queen's University Kingston Ontario Canada.
Department of Pediatrics, Division of Medical Genetics Kingston General Hospital Kingston Ontario Canada.
JIMD Rep. 2019 Mar 14;46(1):28-34. doi: 10.1002/jmd2.12025. eCollection 2019 Mar.
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare metabolic autosomal recessive urea cycle disorder. Only about 100 patients have been reported in the literature. As the population survives into reproductive years, pregnancy management becomes a new challenge for this clinicians. To our knowledge, there are less than three patients with successful pregnancies and deliveries found in the literature with no specific consensus on management or recommendations for HHH syndrome. We reviewed the current literature regarding pregnancy outcomes, combine it with our experience managing a patient through two successful pregnancies and identify a new concern of fetal intrauterine growth restriction. From this, recommendations for pregnancy management are made, including a detailed protocol for clinicians to use for disease management at delivery and in the post-partum period.
高鸟氨酸血症-高氨血症-同型瓜氨酸尿症(HHH)综合征是一种罕见的常染色体隐性遗传代谢性尿素循环障碍疾病。文献中仅报道了约100例患者。随着患者存活至生育年龄,妊娠管理对临床医生来说成为了一项新挑战。据我们所知,文献中成功妊娠和分娩的患者不足三例,对于HHH综合征的管理或建议尚无明确共识。我们回顾了当前有关妊娠结局的文献,并结合我们管理一名患者成功度过两次妊娠的经验,发现了胎儿宫内生长受限这一新问题。据此,我们提出了妊娠管理建议,包括为临床医生在分娩时及产后用于疾病管理的详细方案。