Details

Autor(en) / Beteiligte

• Cheng, Yamei
• Guo, Luying
• Wang, Meifang
• Chen, Jianghua
• Wang, Rending

Titel

Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review

Ist Teil von

• Internal Medicine, 2021/08/15, Vol.60(16), pp.2651-2657

Ort / Verlag

Japan: The Japanese Society of Internal Medicine

Erscheinungsjahr

2021

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• We herein report the case of a kidney transplant patient with recurrence of obstructive nephropathy that was not diagnosed as adenine phosphoribosyltransferase (APRT) deficiency until gene testing identified a pathogenic homozygous variant three years after renal transplantation. Subsequently, the patient was treated with allopurinol, and the allograft function increased progressively to normal. In addition, 20 cases of APRT deficiency in renal transplant recipients were also reviewed. We hope this case increases awareness of APRT deficiency in repeated obstructive nephropathy post-transplantation, which is a treatable disease for which the misdiagnosis or delayed diagnosis should be avoided.