Chronic kidney disease and reduced renal COX2 expression in xanthinuria: a case-control study
Marie-Hélène Normand, François Gougeon, Naeem Bhojani, Mélanie Dieudé, Guillaume Bollée · 2026
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Description
Marie-Hélène Normand and four colleagues report, in 2026, the first kidney biopsy ever described in xanthinuria, a rare inherited disorder. A fault in one enzyme floods urine with xanthine, which can form stones. Their patient, a 38 year old Afghan man, had a large staghorn stone removed. Gene tests confirmed the enzyme fault. Yet his kidney function kept sliding afterward, with protein leaking into urine.
A biopsy of the other kidney showed advanced scarring with no crystal deposits at all. One enzyme tied to protective prostaglandin making, COX2, was sharply reduced in his tubules versus comparison tissue. He reached kidney failure at 41 and did well after a transplant. Normand and the team propose COX2 loss as a new lead on how this disease harms kidneys.
Catalog record
| CREATOR | Marie-Hélène Normand, François Gougeon, Naeem Bhojani, Mélanie Dieudé, Guillaume Bollée |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 16826 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |