Ranganath L R, Milan A M, Bay-Jensen A C, Thudium C S
Departments of Clinical Biochemistry and Metabolic Medicine, Herlev, Denmark.
Nordic Bioscience, Herlev, Denmark.
Mol Genet Metab Rep. 2021 Apr 29;27:100766. doi: 10.1016/j.ymgmr.2021.100766. eCollection 2021 Jun.
A 34-year old woman with alkaptonuria had an elective pregnancy, during which she collected urine samples over the duration of her pregnancy until parturition. She had been attending the National Alkaptonuria Centre from the age of 31 years and continued to attend after delivery for a further three annual visits. Data from her NAC visits as well as urine samples collected during pregnancy were analysed. Urine CTX-1/urine creatinine, urine αCTX-I/ urine creatinine, urine CTX-II/ urine creatinine, and urine C3M/urine creatinine all showed a rapid increase early in pregnancy, returning to baseline before increasing in late pregnancy, indicating significant remodelling of bone, subchondral bone, cartilage and other organs and connective tissue rich in collagens I, II and III. The pattern of tissue remodelling in AKU pregnancy has been described for the very first time. Further research is needed to understand pregnancy in AKU.
一名34岁的患有黑尿症的女性进行了选择性妊娠，在此期间，她在整个孕期直至分娩都收集了尿液样本。她从31岁起就一直在国家黑尿症中心就诊，产后还继续就诊了三年，每年一次。对她在国家黑尿症中心就诊的数据以及孕期收集的尿液样本进行了分析。尿CTX-1/尿肌酐、尿αCTX-I/尿肌酐、尿CTX-II/尿肌酐和尿C3M/尿肌酐在妊娠早期均迅速升高，在妊娠晚期升高之前恢复至基线水平，这表明骨骼、软骨下骨、软骨以及其他富含I、II和III型胶原蛋白的器官和结缔组织发生了显著重塑。首次描述了黑尿症患者孕期的组织重塑模式。需要进一步研究以了解黑尿症患者的妊娠情况。
