Activity of Adenine Phosphoribosyltransferase (Aprt) in Patients with Renal Failure and Urolithiasis

1985 ◽  
pp. 347-350 ◽  
Author(s):  
A. Stenzel ◽  
P. Banholzer ◽  
W. Löffler ◽  
S. Reiter ◽  
W. Gröbner ◽  
...  
Keyword(s):  
Renal Failure ◽  
Adenine Phosphoribosyltransferase

Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency

1998 ◽  
Vol 275 (1) ◽  
pp. F154-F163 ◽  
Author(s):  
Michael G. Stockelman ◽  
John N. Lorenz ◽  
Frost N. Smith ◽  
Gregory P. Boivin ◽  
Amrik Sahota ◽  
...  
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Kidney Disease ◽  
Creatinine Clearance ◽  
Renal Damage ◽  
Male Mice ◽  
Adenine Phosphoribosyltransferase ◽  
Disease Treatment ◽  
Significant Impairment ◽  
Normal Males

In humans, adenine phosphoribosyltransferase (APRT, EC 2.4.2.7 ) deficiency can manifest as nephrolithiasis, interstitial nephritis, and chronic renal failure. APRT catalyzes synthesis of AMP from adenine and 5-phosphoribosyl-1-pyrophosphate. In the absence of APRT, 2,8-dihydroxyadenine (DHA) is produced from adenine by xanthine dehydrogenase (XDH) and can precipitate in the renal interstitium, resulting in kidney disease. Treatment with allopurinol controls formation of DHA stones by inhibiting XDH activity. Kidney disease in APRT-deficient mice resembles that seen in humans. By age 12 wk, APRT-deficient male mice are, on average, mildly anemic and smaller than normal males. They have extensive renal interstitial damage (assessed by image analysis) and elevated blood urea nitrogen (BUN), and their creatinine clearance rates, which measure excretion of infused creatinine as an estimate of glomerular filtration rate (GFR), are about half that of wild-type males. APRT-deficient males treated with allopurinol in the drinking water had normal BUN and less extensive visible renal damage, but creatinine clearance remained low. Throughout their lifespans, homozygous null female mice manifested significantly less renal damage than homozygous null males of the same age. APRT-deficient females showed no significant impairment of GFR at age 12 wk. Consequences of APRT deficiency in male mice are more pronounced than in females, possibly due to differences in rates of adenine or DHA synthesis or to sex-determined responses of the kidneys.

Adenine phosphoribosyltransferase deficiency as a cause of renal failure

Nephrology ◽  
2015 ◽  
Vol 20 (6) ◽  
pp. 439-440 ◽  
Author(s):  
Ankit Sharma ◽  
Mathini Jayaballa ◽  
Thomas Ng ◽  
Michel Tchan ◽  
Mirna Vucak-Dzumhur
Keyword(s):  
Renal Failure ◽  
Adenine Phosphoribosyltransferase ◽  
Adenine Phosphoribosyltransferase Deficiency

Effect of Renal Failure on Erythrocyte Purine Nucleotide, Nucleoside and Base Concentrations and Some Related Enzyme Activities

1981 ◽  
Vol 61 (6) ◽  
pp. 757-764 ◽  
Author(s):  
M. A. Mansell ◽  
J. Allsop ◽  
M. E. North ◽  
R. J. Simmonds ◽  
R. A. Harkness ◽  
...  
Keyword(s):  
Renal Failure ◽  
Adenylate Kinase ◽  
Purine Nucleoside Phosphorylase ◽  
Purine Metabolism ◽  
Hypoxanthine Phosphoribosyltransferase ◽  
Purine Nucleotide ◽  
Adenine Phosphoribosyltransferase ◽  
Metabolite Concentrations ◽  
Related Enzyme ◽  
The Mean

1. We have studied purine metabolism in renal failure using high-pressure liquid chromatography to determine metabolite concentrations in erythrocytes and plasma, and microradiochemical assays of enzyme activity in erythrocytes. 2. the mean activities of some of the enzymes involved in purine metabolism were raised in renal failure. Significant elevations of adenylate kinase (EC 2.7.4.3), purine nucleoside phosphorylase (EC 2.4.2.1), hypoxanthine phosphoribosyltransferase (EC 2.4.2.8) and adenosine deaminase (EC 3.5.4.4) but not of adenine phosphoribosyltransferase (EC 2.4.2.7) and ribosephosphate pyrophosphokinase (phosphoribosylpyrophosphate synthetase; EC 2.7.6.1) activities were demonstrated. However, there was an overlap between results from patients with renal failure and normal (control) subjects. Erythrocyte phosphoribosylpyrophosphate levels were also unchanged. 3. Erythrocyte nucleotide concentrations especially those of inosine were raised in renal failure. 4. the plasma inosine was reduced in renal failure. 5. the significance of these changes is discussed.

scholarly journals Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failure

2011 ◽  
pp. 45-48 ◽  
Author(s):  
Giuseppina Marra ◽  
Paolo Gilles Vercelloni ◽  
Alberto Edefonti ◽  
Gianantonio Manzoni ◽  
Maria Angela Pavesi ◽  
...  
Keyword(s):  
Renal Failure ◽  
Adenine Phosphoribosyltransferase ◽  
Adenine Phosphoribosyltransferase Deficiency
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