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

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dc.contributor.authorKhan, M. F.en_US
dc.contributor.authorSiddini, V.en_US
dc.contributor.authorVankalakunti, M.en_US
dc.contributor.authorBallal, S.en_US
dc.date.accessioned2024-09-24T09:12:48Z
dc.date.available2024-09-24T09:12:48Z
dc.date.issued2023-02
dc.description.abstractComplete 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.en_US
dc.identifier.affiliationsDepartment of Nephrology, Manipal Hospitals, Bangalore, Karnataka, Indiaen_US
dc.identifier.affiliationsDepartment of Nephrology, Manipal Hospitals, Bangalore, Karnataka, Indiaen_US
dc.identifier.affiliationsDepartment of Nephrology, Manipal Hospitals, Bangalore, Karnataka, Indiaen_US
dc.identifier.affiliationsDepartment of Nephrology, Manipal Hospitals, Bangalore, Karnataka, Indiaen_US
dc.identifier.citationKhan M. F., Siddini V., Vankalakunti M., Ballal S.. Two birds one stone-two rare cases of adenine phosphoribosyl transferase deficiency. International Journal of Research in Medical Sciences. 2023 Feb; 11(2): 710-713en_US
dc.identifier.issn2320-6071
dc.identifier.issn2320-6012
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/232888
dc.languageenen_US
dc.publisherMedip Academyen_US
dc.relation.issuenumber2en_US
dc.relation.volume11en_US
dc.source.urihttps://doi.org/10.18203/2320-6012.ijrms20230192en_US
dc.subjectStonesen_US
dc.subjectAPRTen_US
dc.subjectGenetic diseaseen_US
dc.titleTwo birds one stone-two rare cases of adenine phosphoribosyl transferase deficiencyen_US
dc.typeJournal Articleen_US
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