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A case report of pregnancy in untreated alkaptonuria - Focus on urinary tissue remodelling markers

L R Ranganath1, A M Milan1, A C Bay-Jensen2

  • 1Departments of Clinical Biochemistry and Metabolic Medicine, Herlev, Denmark.

Molecular Genetics and Metabolism Reports
|May 17, 2021
PubMed

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.

Keywords:
AlkaptonuriaHomogentisic acidOchronosisPregnancyTissue biomarkers

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