Cellular and molecular mechanisms of kidney injury in 2, 8-dihydroxyadenine nephropathy

BM Klinkhammer, S Djudjaj, U Kunter… - Journal of the …, 2020 - journals.lww.com
Background Hereditary deficiency of adenine phosphoribosyltransferase causes 2, 8-
dihydroxyadenine (2, 8-DHA) nephropathy, a rare condition characterized by formation of 2,
8-DHA crystals within renal tubules. Clinical relevance of rodent models of 2, 8-DHA crystal
nephropathy induced by excessive adenine intake is unknown. Methods Using animal
models and patient kidney biopsies, we assessed the pathogenic sequelae of 2, 8-DHA
crystal-induced kidney damage. We also used knockout mice to investigate the role of TNF …