| Autor: |
Bouderlique, Elise, Tang, Ellie, Perez, Joëlle, Ea, Hang-Korng, Renaudin, Felix, Coudert, Amélie, Vandermeersch, Sophie, Bazin, Dominique, Haymann, Jean-Philippe, Saint-Jacques, Camille, Frochot, Vincent, Daudon, Michel, Letavernier, Emmanuel |
| Jazyk: |
English<br />French |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Comptes Rendus. Chimie, Vol 25, Iss S1, Pp 393-405 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1878-1543 |
| DOI: |
10.5802/crchim.92 |
| Popis: |
Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disease characterized by an increased production of 2,8 dihydroxyadenine (2,8-DHA) precipitating in urine, leading to a crystalline nephropathy and end-stage renal disease. Here, we describe the high prevalence of granuloma (88%) in biopsies from patients with APRT deficiency. A murine model of 2,8-DHA nephropathy was generated, showing that anakinra or dexamethasone, combined with allopurinol, improved renal function to a larger extent than allopurinol alone, the standard therapy. Inflammation plays a critical role in the development of 2,8-DHA nephropathy, and therapy based upon drugs targeting innate immunity could improve renal function recovery. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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