The case reports about a patient who underwent a kidney transplantation for chronic disease of unknown cause. The clinical course showed a delayed graft functionand acute tubular necrosis. Urine microscopy confirmed a tubular disfunction: presence of renal epithelial cells,cylindruria and crystals. The microscopy images showed brownish-colored crystals that, under polarized light,suggested a 2.8-dihydroxyadenine (DHA) urolithiasis, rare and underdiagnosed pathology, due to the deficiency of adenine-phosphoribosyltransferase (APRT). The specific analysis, i.e. the determination of the enzyme activity on erythrocyte lysate, did not confirm our initial hypothesis, excluding de facto a DHA urolithiasis. Analysis of purine andpyrimidine profile confirmed the presence of a purine dysmetabolism. The patient was treated with allopurinol, whichimproved the clinical picture. This case underlines the need for more extensive studies of crystal and/or metabolicnephropathies before renal transplantation. The microscopy study was however useful to trigger investigations thathave then influenced the therapy and the clinical progress of the patient.
Sofferenza tubulare in un paziente con recente trapianto di rene [Tubular disfunction in a patient with a recent kidney transplant]
Tavazzi, Barbara;Lazzarino, Giacomo;
2019-01-01
Abstract
The case reports about a patient who underwent a kidney transplantation for chronic disease of unknown cause. The clinical course showed a delayed graft functionand acute tubular necrosis. Urine microscopy confirmed a tubular disfunction: presence of renal epithelial cells,cylindruria and crystals. The microscopy images showed brownish-colored crystals that, under polarized light,suggested a 2.8-dihydroxyadenine (DHA) urolithiasis, rare and underdiagnosed pathology, due to the deficiency of adenine-phosphoribosyltransferase (APRT). The specific analysis, i.e. the determination of the enzyme activity on erythrocyte lysate, did not confirm our initial hypothesis, excluding de facto a DHA urolithiasis. Analysis of purine andpyrimidine profile confirmed the presence of a purine dysmetabolism. The patient was treated with allopurinol, whichimproved the clinical picture. This case underlines the need for more extensive studies of crystal and/or metabolicnephropathies before renal transplantation. The microscopy study was however useful to trigger investigations thathave then influenced the therapy and the clinical progress of the patient.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
