Adenine phosphoribosyltransferase(APRT)deficiency is a rare autosomal recessive disease leading to generation of large amounts of 2,8-dihydroxyadenine(DHA).DHA is excreted in urine,where it precipitates into crystals ...Adenine phosphoribosyltransferase(APRT)deficiency is a rare autosomal recessive disease leading to generation of large amounts of 2,8-dihydroxyadenine(DHA).DHA is excreted in urine,where it precipitates into crystals due to its low solubility.DHA crystals can aggregate into stones or cause injury to the renal parenchyma(DHA nephropathy).Recurrent urolithiasis and DHA nephropathy are the two clinical manifestations of APRT deficiency.Diagnosis of APRT deficiency can be made during childhood as well as adulthood.Diagnosis mainly relies on the recognition of DHA in stones or urine crystals.Measurement of APRT activity and genetic testing are useful for confirmation of diagnosis,for family screening and should be considered in difficult cases of urolithiasis or crystalline nephropathy.Allopurinol therapy is the cornerstone of treatment and is highly effective in preventing recurrence of stones and kidney disease.High fluid intake and dietary modifications are also recommended.Early diagnosis and treatment are of paramount importance to prevent renal damage.Unfortunately,diagnosis of APRT deficiency is often overlooked and irreversible renal failure still occurs in a substantial proportion of patients.Clinicians must be alert to the possibility of APRT deficiency and consider the appropriate diagnostic tests in certain cases.This review discusses the genetic and biochemical mechanisms of APRT deficiency,and the issues of diagnosis and management.展开更多
APRT) deficiency is an uncommon genetic cause ofchronic kidney disease due to crystalline nephropathy.Methods: A case of a Chinese boy with APRT defi ciencypresenting with severe acute kidney injury secondaryto obstru...APRT) deficiency is an uncommon genetic cause ofchronic kidney disease due to crystalline nephropathy.Methods: A case of a Chinese boy with APRT defi ciencypresenting with severe acute kidney injury secondaryto obstructive uropathy from multiple renal calculi wasreviewed.Results: The patient underwent staged removal of thecalculi. Infrared spectrometry of the renal calculi showed2,8-dihydroxyadenine. APRT deficiency was confirmedwith abolished APRT enzyme activity in red blood cells.He was started on allopurinol and low purine diet withcomplete resolution of the residual calculi.Conclusion: APRT defi ciency should be considered inpatients with multiple radiolucent renal calculi.展开更多
文摘Adenine phosphoribosyltransferase(APRT)deficiency is a rare autosomal recessive disease leading to generation of large amounts of 2,8-dihydroxyadenine(DHA).DHA is excreted in urine,where it precipitates into crystals due to its low solubility.DHA crystals can aggregate into stones or cause injury to the renal parenchyma(DHA nephropathy).Recurrent urolithiasis and DHA nephropathy are the two clinical manifestations of APRT deficiency.Diagnosis of APRT deficiency can be made during childhood as well as adulthood.Diagnosis mainly relies on the recognition of DHA in stones or urine crystals.Measurement of APRT activity and genetic testing are useful for confirmation of diagnosis,for family screening and should be considered in difficult cases of urolithiasis or crystalline nephropathy.Allopurinol therapy is the cornerstone of treatment and is highly effective in preventing recurrence of stones and kidney disease.High fluid intake and dietary modifications are also recommended.Early diagnosis and treatment are of paramount importance to prevent renal damage.Unfortunately,diagnosis of APRT deficiency is often overlooked and irreversible renal failure still occurs in a substantial proportion of patients.Clinicians must be alert to the possibility of APRT deficiency and consider the appropriate diagnostic tests in certain cases.This review discusses the genetic and biochemical mechanisms of APRT deficiency,and the issues of diagnosis and management.
文摘APRT) deficiency is an uncommon genetic cause ofchronic kidney disease due to crystalline nephropathy.Methods: A case of a Chinese boy with APRT defi ciencypresenting with severe acute kidney injury secondaryto obstructive uropathy from multiple renal calculi wasreviewed.Results: The patient underwent staged removal of thecalculi. Infrared spectrometry of the renal calculi showed2,8-dihydroxyadenine. APRT deficiency was confirmedwith abolished APRT enzyme activity in red blood cells.He was started on allopurinol and low purine diet withcomplete resolution of the residual calculi.Conclusion: APRT defi ciency should be considered inpatients with multiple radiolucent renal calculi.
