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A case report of pregnancy in untreated alkaptonuria – Focus on urinary tissue remodelling markers
Molecular Genetics and Metabolism Reports ( IF 1.9 ) Pub Date : 2021-04-29 , DOI: 10.1016/j.ymgmr.2021.100766
L.R. Ranganath , A.M. Milan , A.C. Bay-Jensen , C.S. Thudium

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.



中文翻译:

未经治疗的alkaptonuria的一例妊娠报告–着眼于泌尿组织重塑标志物

一名34岁的女性患有链球蛋白尿,曾择期怀孕,在此期间,她一直在怀孕期间直至分娩期间收集尿液样本。她从31岁起就一直在国家Alkaptonuria中心就读,并在分娩后继续参加进一步的每年3次访问。分析了来自她的NAC访视的数据以及怀孕期间收集的尿液样本。尿CTX-1 /尿肌酐,尿αCTX-I/尿肌酐,尿CTX-II /尿肌酐和尿C3M /尿肌酐均在妊娠初期迅速增加,在妊娠后期增加之前恢复到基线,这表明重塑富含胶原蛋白I,II和III的骨骼,软骨下骨,软骨和其他器官以及结缔组织。首次描述了AKU妊娠中组织重塑的模式。需要进一步的研究来了解AKU中的妊娠。

更新日期:2021-04-30
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