Open AccessUnusual cause of crystalline nephropathy
Author(s) -
Natarajan Gopalakrishnan,
Dhanasekaran Rajasekar,
J Dhanapriya,
Thanigachalam Dineshkumar,
Ramanathan Sakthirajan,
T Balasubramaniyan,
Vignesh Murugesan
Publication year - 2018
Publication title -
saudi journal of kidney diseases and transplantation/našrat amraḍ wa zira'aẗ al-kulaẗ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.268
H-Index - 30
eISSN - 2320-3838
pISSN - 1319-2442
DOI - 10.4103/1319-2442.229280
Subject(s) - medicine , adenine phosphoribosyltransferase , nephropathy , renal biopsy , urinalysis , proteinuria , pathognomonic , gastroenterology , minimal change disease , membranous nephropathy , pathology , kidney disease , urology , endocrinology , kidney , urine , disease , focal segmental glomerulosclerosis , biochemistry , enzyme , purine , diabetes mellitus , chemistry
Adenine phosphoribosyltransferase deficiency is a rare, inherited autosomal recessive disease presenting with 2,8-dihydroxyadenine (DHA) urolithiasis, DHA nephropathy, and chronic kidney disease. The presence of DHA crystals in urine and renal biopsy is pathognomonic of the disease. We report a 23-year-old female with acute renal failure and nephrotic proteinuria. Urinalysis showed reddish brown, round crystals with dark outline, and central spicules consistent with 2,8-DHA crystals. Renal biopsy showed membranous nephropathy and 2,8-DHA nephropathy. Our patient improved with liberal fluid intake, restriction of high adenine content foods, and oral xanthine dehydrogenase inhibitor febuxostat. Early diagnosis and initiation of treatment prevent renal complications.