Two birds one stone-two rare cases of adenine phosphoribosyl transferase deficiency

Mohammed Fahad Khan; Vishwanath Siddini; Mahesha Vankalakunti; Sudarshan Ballal

doi:10.18203/2320-6012.ijrms20230192

Authors

Mohammed Fahad Khan Department of Nephrology, Manipal Hospitals, Bangalore, Karnataka, India
Vishwanath Siddini Department of Nephrology, Manipal Hospitals, Bangalore, Karnataka, India
Mahesha Vankalakunti Department of Nephrology, Manipal Hospitals, Bangalore, Karnataka, India
Sudarshan Ballal Department of Nephrology, Manipal Hospitals, Bangalore, Karnataka, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20230192

Keywords:

Stones, APRT, Genetic disease

Abstract

Complete adenine phosphoribosyl transferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. We had a 52-year-old male with Hypertension for 18 months, presented for routine evaluation and was found to have creatinine of 4.29 mg/dl. His urine analysis was done which showed no proteinuria or urinary sediments. His USG done demonstrated normal sized kidneys with mildly increased echogenicities. He underwent a renal Biopsy for etiology determination. Similarly, we had another case of a 54-year-old female with no comorbidities who was identified to have chronic kidney disease in 2018 with a baseline creatinine of 2 mg/dl came with uremic symptoms and history of NSAID intake in June 2019. Her creatinine peaked to 7.9 mg/dl. Urine analysis displayed 1+ proteinuria with no active sediments. Her USG of the kidneys showed normal kidneys with increased echogenicities. She underwent renal biopsy for etiology determination. Biopsy of case 1 showed chronic interstitial nephritis and case 2 showed acute interstitial nephritis. Both biopsies showed deposition of 2,8-dihydroxyadenine crystals. Genetic analysis of both cases showed an exon mutation in chromosome 16.

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