The Westmead Hospital Nephrology and Transplant Unit, Westmead, NSW, Australia.
The Canberra Hospital Nephrology Unit Cabrera ACT, Canberra, Australia.
BMC Nephrol. 2020 Nov 17;21(1):488. doi: 10.1186/s12882-020-02100-4.
Pregnancy-related Atypical Haemolytic Uremic Syndrome (P-aHUS) is a rare condition affecting genetically predisposed women during pregnancy. It is often difficult to diagnose and has a significant impact on maternal and foetal outcomes. It is characterised by microangiopathic haemolytic anaemia and kidney injury from thrombotic microangiopathy.
A 27-year-old female of Lebanese descent presented at 36 weeks' gestation with foetal death in-utero (FDIU) with placental abruption on a background of previously normal antenatal visits. She was coagulopathic and anaemic with anuric acute kidney injury, requiring emergency Caesarean section, intubation and dialysis. Her coagulopathy rapidly resolved, however, her anaemia and renal dysfunction persisted. A diagnosis of P-aHUS was made, and she was empirically treated with Eculizumab. Her ADAMTS13 level was normal, effectively excluding thrombotic thrombocytopenic purpura. Within 2 weeks of treatment her haematological parameters improved, and her renal function began to recover and within 2 months she became dialysis independent.
This case highlights the challenges of a timely diagnosis of P-aHUS from other pregnancy-related diseases. Although our patient is dialysis-independent, her risk of relapse remains high with subsequent pregnancies. Currently we are awaiting her genetic sequencing to complete her assessment for underlying mutations and are determining the safest approach to a future planned pregnancy.
妊娠相关性非典型溶血性尿毒症综合征（P-aHUS）是一种罕见的疾病，影响妊娠期间遗传易感性的女性。它通常难以诊断，对母婴结局有重大影响。其特征为微血管病性溶血性贫血和血栓性微血管病引起的肾损伤。
一名 27 岁的黎巴嫩裔女性，妊娠 36 周时因宫内胎儿死亡（FDIU）伴胎盘早剥就诊，此前产前检查正常。她凝血功能异常伴贫血和无尿性急性肾损伤，需要紧急剖宫产、插管和透析。她的凝血功能迅速恢复正常，但贫血和肾功能障碍持续存在。诊断为 P-aHUS，并给予依库珠单抗经验性治疗。她的 ADAMTS13 水平正常，有效排除了血栓性血小板减少性紫癜。治疗 2 周内，她的血液学参数改善，肾功能开始恢复，2 个月内无需透析。
该病例强调了及时诊断 P-aHUS 与其他妊娠相关疾病的挑战。尽管我们的患者已无需透析，但她在随后的妊娠中仍有高复发风险。目前我们正在等待她的基因测序结果，以完成对潜在突变的评估，并确定未来计划妊娠的最安全方法。
