AI Article Synopsis
- Adenine phosphoribosyltransferase (APRT) deficiency is a rare genetic disorder that leads to kidney damage caused by the accumulation of 2,8-dihydroxyadenine (DHA) crystals.
- A 28-year-old man with chronic kidney disease received a kidney transplant, where doctors discovered brownish crystals in his urine just a few days post-surgery.
- After diagnosing the condition, he was treated with febuxostat, which successfully reduced the DHA crystals and prevented further kidney damage post-transplant.
Article Abstract
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder that results in irreversible renal damage due to 2,8-dihydroxyadenine (DHA) nephropathy. A 28-year-old man underwent living-related kidney transplantation for chronic kidney disease of unknown etiology. Numerous spherical brownish crystals observed in his urinary sediment on postoperative day 3 and were observed within the tubular lumen of renal allograft biopsy specimens on postoperative day 7. After a genetic diagnosis, febuxostat treatment was started on postoperative day 7, with the dosage gradually increased to 80 mg/day until complete the disappearance of 2,8-DHA crystals. Febuxostat prevented secondary 2,8-DHA nephropathy after kidney transplantation.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498204 | PMC |
| http://dx.doi.org/10.2169/internalmedicine.56.8142 | DOI Listing |
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