|
Total: 8 |
|
| PMID (PMCID) | ||
|---|---|---|
|
30355577 |
MALE | Middle Aged |
| APRT deficiency: the need for early diagnosis. | ||
|
Huq A, Nand K, Juneja R, Winship I. BMJ Case Rep. 2018;2018:. |
||
| Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2, 8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy. | ||
|
30106368 |
MALE | Middle Aged |
| Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report . | ||
|
Cochran B, Kovaikova T, Hodaova K, ivna M, Hnizda A, Niehaus AG, Bonnecaze A, Balasubraminiam G, Ceballos-Picot I, Hawfield A, Kidd K, Kmoch S, Bleyer AJ. Clin Nephrol. 2018;90(4):296-301. |
||
| We reviewed APRT deficiency reported in the literature to determine the loss of kidney function in individuals with untreated APRT deficiency and its relationship to nephrolithiasis. | ||
|
30106368 |
MALE | Middle Aged |
| Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report . | ||
|
Cochran B, Kovaikova T, Hodaova K, ivna M, Hnizda A, Niehaus AG, Bonnecaze A, Balasubraminiam G, Ceballos-Picot I, Hawfield A, Kidd K, Kmoch S, Bleyer AJ. Clin Nephrol. 2018;90(4):296-301. |
||
| Adenine phosphoribosyltransferase (APRT) deficiency (OMIM #614723) is a rare autosomal recessive defect in the purine salvage pathway that causes excessive production of 2,8-dihydroxyadenine, leading to nephrolithiasis and chronic kidney disease (CKD). | ||
|
30106368 |
MALE | Middle Aged |
| Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report . | ||
|
Cochran B, Kovaikova T, Hodaova K, ivna M, Hnizda A, Niehaus AG, Bonnecaze A, Balasubraminiam G, Ceballos-Picot I, Hawfield A, Kidd K, Kmoch S, Bleyer AJ. Clin Nephrol. 2018;90(4):296-301. |
||
| We reviewed APRT deficiency reported in the literature to determine the loss of kidney function in individuals with untreated APRT deficiency and its relationship to nephrolithiasis. | ||
|
30106368 |
MALE | Middle Aged |
| Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report . | ||
|
Cochran B, Kovaikova T, Hodaova K, ivna M, Hnizda A, Niehaus AG, Bonnecaze A, Balasubraminiam G, Ceballos-Picot I, Hawfield A, Kidd K, Kmoch S, Bleyer AJ. Clin Nephrol. 2018;90(4):296-301. |
||
| APRT deficiency is associated with slowly progressive CKD that occurs independently of nephrolithiasis. | ||
|
20064951 |
MIXED_SAMPLE | Adult |
| Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. | ||
|
Nasr SH, Sethi S, Cornell LD, Milliner DS, Boelkins M, Broviac J, Fidler ME. Nephrol Dial Transplant. 2010;25(6):1909-15. |
||
| 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. | ||
|
20303634 |
FEMALE | |
| Decreased kidney function and crystal deposition in the tubules after kidney transplant. | ||
|
Stratta P, Fogazzi GB, Canavese C, Airoldi A, Fenoglio R, Bozzola C, Ceballos-Picot I, Bollee G, Daudon M. Am J Kidney Dis. 2010;56(3):585-90. |
||
| Adenine phosphoribosyltransferase (APRT) deficiency is an autosomal recessive purine enzyme defect that results in the inability to utilize adenine, which consequently is oxidized by xanthine dehydrogenase to 2, 8-dihydroxyadenine (2,8-DHA), an extremely insoluble substance eventually leading to crystalluria, nephrolithiasis, and kidney injury. | ||
|
2091814 |
MALE | |
| Nephrolithiasis in twins with APRT-deficiency. Stones as a marker of an inborn error of metabolism. | ||
|
Zollner N, Gresser U. Bildgebung. 1990;57(3-4):64-6. |
||
| Nephrolithiasis in twins with APRT-deficiency. | ||