Adenine phosphoribosyltransferase deficiency

Source: Wikipedia, the free encyclopedia.
Adenine phosphoribosyltransferase deficiency
Other namesAPRT deficiency or 2,8 Dihydroxyadenine urolithiasis
Uric acid nephrolithiasis, Xanthinuria, and Primary hyperoxaluria.[1]
MedicationAllopurinol.[1]
Frequency0.4% to 1.2%[1]

Adenine phosphoribosyltransferase deficiency is a rare

urolithiasis and renal failure.[6]

Adenine phosphoribosyltransferase deficiency has been classified into two types. Type one is caused by mutant alleles of APRT*Q0 and is found in individuals from many different countries. Type one causes a complete deficiency in vivo or in vitro.[3] Type two adenine phosphoribosyltransferase deficiency is caused by mutant alleles of APRT*J results in a full enzyme defiency in vivo but only a partial deficiency in cell extracts. Type two is mainly seen in Japan.[4]

APRT deficiency is often identified by the presence of

kidney stones and chronic kidney disease in most patients.[8]

Signs and symptoms

Adenine phosphoribosyltransferase deficiency commonly manifests as symptoms of the kidneys and

nephropathy, hematuria, acute kidney injury, chronic kidney disease, and Urinary tract infections.[9] No extrarenal symptoms have been documented.[10]

Adenine phosphoribosyltransferase deficiency can present at any age. Studies have shown that the age of diagnoses can vary from infancy to over the age of 70.

renal failure requiring renal replacement therapy.[6] In some cases APRT deficiency is first diagnosed after a kidney transplant when complications arise.[12][13] The first kidney stone episode can occur within the first few months of birth or later in life.[14] In infants APRT deficiency may manifest as reddish brown diaper stains.[15]

Patients with APRT deficiency typically have normal levels of plasma

heterozygotes with a partial APRT deficiency.[16][17]

Complications

dihydroxyadenine.[10]

Causes

Adenine phosphoribosyltransferase deficiency has an autosomal recessive pattern of inheritance.

Adenine phosphoribosyltransferase deficiency is an

autosomal recessive condition[5] which means that two copies of the mutated gene must be present for adenine phosphoribosyltransferase deficiency to develop.[18]

Genetics

The adenine phosphoribosyltransferase (APRT) gene is found on chromosome 16q24, contains five exons, encompasses 2.8 kb of DNA, and has a coding region of 540 bp.[19] Complete APRT deficiency develops in people who carry mutations in both copies of the APRT gene.[10]

There is no evidence that

heterogeneity.[20]

Mechanism

All tissues express the

insoluble in urine, forming crystals that can accumulate, grow, and form stones.[25] This can lead to crystalline nephropathy.[6]

Diagnosis

Adenine phosphoribosyltransferase deficiency is diagnosed based on the identification of

dihydroxyadenine from uric acid.[10] For the identification of dihydroxyadenine crystals, light and polarizing microscopy examination of crystalluria is a very helpful, noninvasive, and reasonably priced method. The most concentrated urine samples come from morning urine voids, which are ideal for studying crystalluria.[26] One way to quantify something is to count the number of crystals per volume unit,[26] which is higher in patients who are not receiving treatment.[6]

See also

References

  1. ^
    PMID 22934314
    . Retrieved November 30, 2023.
  2. ^ a b c "Adenine phosphoribosyltransferase deficiency: MedlinePlus Genetics". MedlinePlus. October 1, 2012. Retrieved November 30, 2023.
  3. ^
    PMID 3680503
    .
  4. ^
    PMID 3343350
    .
  5. ^
    PMID 24986359
    .
  6. ^
    PMID 20150536
    .
  7. ISSN 2219-2816
    .
  8. PMID 22212387
    . Retrieved November 29, 2023.
  9. PMID 8439471
    . Retrieved November 29, 2023.
  10. ^
    PMID 22700886
    . Retrieved November 29, 2023.
  11. PMID 3817810
    . Retrieved November 29, 2023.
  12. PMID 25307253
    .
  13. PMID 20064951
    .
  14. PMID 3876264
    . Retrieved November 29, 2023.
  15. PMID 11532677
    . Retrieved November 29, 2023.
  16. PMID 4791206
    . Retrieved November 29, 2023.
  17. PMID 19435978
    .
  18. ^ "Autosomal recessive: MedlinePlus Medical Encyclopedia". MedlinePlus. Retrieved November 30, 2023.
  19. PMID 7685481
    . Retrieved November 29, 2023.
  20. PMID 16105024
    .
  21. PMID 6426269
    . Retrieved November 29, 2023.
  22. PMID 30355577
    .
  23. PMID 7367806
    . Retrieved November 29, 2023.
  24. PMID 865583
    . Retrieved November 29, 2023.
  25. PMID 3176201
    . Retrieved November 29, 2023.
  26. ^
    PMID 15499212
    . Retrieved November 29, 2023.

Further reading

External links
Retrieved from "https://en.wikipedia.org/w/index.php?title=Adenine_phosphoribosyltransferase_deficiency&oldid=1219778598"