Crystalline nephropathy due to adenine phosphoribosyl transferase deficiency as a cause of renal allograft dysfunction
<p>APRT deficiency is a rare but under recognized genetic disease. </p><p>Recurrent urolithiasis and DHA nephropathy are the two clinical manifestations of APRT deficiency and diagnosis can be made at any age and recurs after renal transplant. Allopurinol is the cornerstone in prev...
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Archives of Clinical Nephrology - Peertechz Publications,
2021-01-18.
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| LEADER | 00000 am a22000003u 4500 | ||
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| 001 | peertech__10_17352_acn_000049 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Umapati Hegde |e author |
| 700 | 1 | 0 | |a Rajapurkar Mohan |e author |
| 700 | 1 | 0 | |a Gang Sishir |e author |
| 700 | 1 | 0 | |a Amit Jojera |e author |
| 700 | 1 | 0 | |a Shailesh Soni |e author |
| 245 | 0 | 0 | |a Crystalline nephropathy due to adenine phosphoribosyl transferase deficiency as a cause of renal allograft dysfunction |
| 260 | |b Archives of Clinical Nephrology - Peertechz Publications, |c 2021-01-18. | ||
| 520 | |a <p>APRT deficiency is a rare but under recognized genetic disease. </p><p>Recurrent urolithiasis and DHA nephropathy are the two clinical manifestations of APRT deficiency and diagnosis can be made at any age and recurs after renal transplant. Allopurinol is the cornerstone in preventing recurrence. </p><p>APRT activity assay and genetic testing are useful for confirmation of diagnosis, for family screening and in difficult cases of urolithias or crystalline nephropathy.</p> | ||
| 540 | |a Copyright © Umapati Hegde et al. | ||
| 546 | |a en | ||
| 655 | 7 | |a Case Report |2 local | |
| 856 | 4 | 1 | |u https://doi.org/10.17352/acn.000049 |z Connect to this object online. |