Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure | Zendy

Samih H. Nasr | Zendy; Sanjeev Sethi | Zendy; Lynn D. Cornell | Zendy; Dawn S. Milliner | Zendy; Mark R. Boelkins | Zendy; JOHN W. BROVIAC | Zendy; Mary E. Fidler | Zendy

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Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure

Author(s) -

Samih H. Nasr,

Sanjeev Sethi,

Lynn D. Cornell,

Dawn S. Milliner,

Mark R. Boelkins,

JOHN W. BROVIAC,

Mary E. Fidler

Publication year - 2010

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/gfp711

Subject(s) - medicine , nephropathy , transplantation , renal biopsy , primary hyperoxaluria , interstitial nephritis , creatinine , gastroenterology , nephrology , kidney disease , renal function , urology , surgery , pathology , kidney , endocrinology , diabetes mellitus

2,8-dihydroxyadeninuria (DHA) disease (also called 2,8 dihydroxyadeninuria) is a rare autosomal recessive disorder caused by complete adenine phosphoribosyltransferase deficiency and typically manifests as recurrent nephrolithiasis. Only rare cases of DHA nephrolithiasis have been reported from the USA. Herein, we report three American patients who developed DHA crystalline nephropathy leading to end-stage renal disease (ESRD) with recurrence in the allograft.

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