A Case of APRT Deficiency Discovered by Presence of 2,8-DHA Crystals in Urine

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  • 健診尿中に2,8-DHA結晶がみられたAPRT欠損症の1例
  • 症例報告 健診尿中に2,8-DHA結晶がみられたAPRT欠損症の1例
  • ショウレイ ホウコク ケンシン ニョウチュウ ニ 2,8-DHA ケッショウ ガ ミラレタ APRT ケッソンショウ ノ 1レイ

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Abstract

<p>  Crystals of 2,8-dihydroxyadenine (DHA) are precipitated in the urine of people with adenine phosphoribosyltransferase (APRT) deficiency, an autosomal recessive purine metabolic disorder. 2,8-DHA crystals are extremely insoluble and the resulting urinary calculi and tubular deposition cause renal damage. As APRT deficiency can be treated with diet and drugs, early detection and diagnosis are important. We experienced a case of suspected APRT deficiency based on the presence of 2,8-DHA crystals in a urine sediment in a health checkup. This was a 54-year-old man who visited our center in December 2017. A large number of round brown crystals having a central axle-like shape were observed in the urine sediment. They were determined to be 2,8-DHA crystals from their form and properties. Abdominal ultrasonography revealed an 11 mm renal stone in the left kidney. The examinee had a history of recurrent urolithiasis beginning in his twenties. His sister also had a history of recurrent urolithiasis and urinary tract infections from a young age. This case was diagnosed as APRT deficiency by metabolomic analysis of urinary purine nucleotide metabolites. APRT activity was not detected in a T cell test, and in genetic analysis, the genotype was determined to be APRT*J allele homozygote. Based on the above, a definite diagnosis of APRT deficiency was made. Identification of 2,8-DHA crystals in urine sediments through careful observation is important for early diagnosis of APRT deficiency.</p>

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