scholarly journals Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease

2019 ◽  
Vol 30 (3) ◽  
pp. 723
Author(s):  
MitalDipakkkumar Parikh ◽  
Abhijit Konnur ◽  
Sishir Gang
Keyword(s):  
Kidney Disease ◽  
Renal Stones ◽  
Adenine Phosphoribosyltransferase ◽  
Adenine Phosphoribosyltransferase Deficiency

scholarly journals Kidney Disease in Adenine Phosphoribosyltransferase Deficiency

2016 ◽  
Vol 67 (3) ◽  
pp. 431-438 ◽  
Author(s):  
Hrafnhildur Linnet Runolfsdottir ◽  
Runolfur Palsson ◽  
Inger M. Agustsdottir ◽  
Olafur S. Indridason ◽  
Vidar O. Edvardsson
Keyword(s):  
Kidney Disease ◽  
Adenine Phosphoribosyltransferase ◽  
Adenine Phosphoribosyltransferase Deficiency

scholarly journals Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

2021 ◽  
Author(s):  
Hrafnhildur L. Runolfsdottir ◽  
John A. Sayer ◽  
Olafur S. Indridason ◽  
Vidar O. Edvardsson ◽  
Brynjar O. Jensson ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Autosomal Recessive Disorder ◽  
European Population ◽  
Adenine Phosphoribosyltransferase ◽  
Genomic Databases ◽  
Pathogenic Variants ◽  
Adenine Phosphoribosyltransferase Deficiency ◽  
Variation Database ◽  
The Uk ◽  
Aprt Deficiency

AbstractAdenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, although it has been suggested that missed diagnoses may play a role. We assessed the prevalence of APRT deficiency based on the frequency of causally-related APRT sequence variants in a diverse set of large genomic databases. A thorough search was carried out for all APRT variants that have been confirmed as pathogenic under recessive mode of inheritance, and the frequency of the identified variants examined in six population genomic databases: the deCODE genetics database, the UK Biobank, the 100,000 Genomes Project, the Genome Aggregation Database, the Human Genetic Variation Database and the Korean Variant Archive. The estimated frequency of homozygous genotypes was calculated using the Hardy-Weinberg equation. Sixty-two pathogenic APRT variants were identified, including six novel variants. Most common were the missense variants c.407T>C (p.(Met136Thr)) in Japan and c.194A>T (p.(Asp65Val)) in Iceland, as well as the splice-site variant c.400 + 2dup (p.(Ala108Glufs*3)) in the European population. Twenty-nine variants were detected in at least one of the six genomic databases. The highest cumulative minor allele frequency (cMAF) of pathogenic variants outside of Japan and Iceland was observed in the Irish population (0.2%), though no APRT deficiency cases have been reported in Ireland. The large number of cases in Japan and Iceland is consistent with a founder effect in these populations. There is no evidence for widespread underdiagnosis based on the current analysis.

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.

scholarly journals Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects

2019 ◽  
Vol 128 (1-2) ◽  
pp. 144-150
Author(s):  
Hrafnhildur L. Runolfsdottir ◽  
Runolfur Palsson ◽  
Unnur A. Thorsteinsdottir ◽  
Olafur S. Indridason ◽  
Inger M.Sch. Agustsdottir ◽  
...  
Keyword(s):  
Adenine Phosphoribosyltransferase ◽  
Control Subjects ◽  
Adenine Phosphoribosyltransferase Deficiency ◽  
Healthy Control

Renal medicine

2021 ◽  
pp. 353-382
Author(s):  
Gopesh K. Modi ◽  
Vivekanand Jha
Keyword(s):  
Kidney Disease ◽  
Renal Disease ◽  
Rapidly Progressive Glomerulonephritis ◽  
Kidney Injury ◽  
Renal Stones ◽  
Renal Diseases ◽  
Acute Glomerulonephritis ◽  
Glomerular Diseases ◽  
Stage Renal Disease ◽  
End Stage

Assessing renal function, Urinalysis, Proteinuria, Hematuria, Chyluria, Imaging in renal disease, Kidney biopsy, Acute Kidney Injury (AKI), Chronic Kidney Disease (CKD), Diabetic Nephropathy, End Stage Renal Disease and Dialysis, Kidney Transplantation, Glomerular diseases, Acute glomerulonephritis, Urinary schistosomiasis (bilharzia), Infections and Kidney Disease, Rapidly Progressive glomerulonephritis, Tubulointerstitial Disease, Urinary Tract Infection, Vesico-ureteric reflux, Renal Stones, Renal Disease in Pregnancy, Renal Artery Stenosis, Renal Mass, Inherited Renal Diseases

Sign in / Sign up

Export Citation Format

Share Document