Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review

Cheng, Yamei; Guo, Luying; Wang, Meifang; Chen, Jianghua; Wang, Rending

doi:10.2169/internalmedicine.6640-20

Cited by 5 publications

(5 citation statements)

References 21 publications

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“…2,8-Dihydroxyadenine (2,8-DHA) was produced by adenine through xanthine oxidase. 10) It was deposited in the glomerulus and renal interstitium, forming foreign body granulomatous inflammation and blocking the renal tubule lumen, resulting in the corresponding renal tubule cystic dilatation. 11) As the disease progressed, massive nephron loss led to renal failure.…”

Section: Discussionmentioning

confidence: 99%

Renal Metabolomics Study and Critical Pathway Validation of Shenkang Injection in the Treatment of Chronic Renal Failure

Zhou,

Wang,

Zhang

et al. 2024

Biological & Pharmaceutical Bulletin

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To reveal the mechanism of Shenkang injection (SKI) in the treatment of chronic renal failure, and verify the key pathway. In this work, an untargeted metabolomics approach was performed by LC-MS coupled with multivariate statistical analysis to provide new insights into therapeutic mechanism of SKI. Hematoxylin-eosin (H&E) Staining and Immunohistochemistry were used to evaluate the effects of drug treatment, Western blot was used to verify the critical pathway. Then, a total of 44 potential biomarkers of chronic renal failure (CRF) were identified and reversed regulation, including 2,8-dihydroxypurine, 5-methoxytryptophan, uric acid, acetylcarnitine, taurine, etc. Mainly concerned with arginine and proline metabolism, purine metabolism, histidine metabolism, etc. Pathological examination showed that the renal interstitium of SKI group was significantly improved, with fewer inflammatory cells and thinner vascular walls compared with the model group. Immunohistochemical results showed that the expression of α-smooth muscle actin (α-SMA) was decreased, and the expression of E-cadherin was increased in CRF model group, and the two indicators were reversed regulation in SKI injection, indicating that the degree of fibrosis was relieved. Critical signaling pathway phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt) and nuclear factor-kappaB (NF-κB) protein expressions were significantly inhibited. This study was the first to employ metabolomics to elucidate the underlying mechanisms of SKI in chronic renal failure. The results would provide some support for clinical application of traditional Chinese medicines in clinic.

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Section: Discussionmentioning

confidence: 99%

Renal Metabolomics Study and Critical Pathway Validation of Shenkang Injection in the Treatment of Chronic Renal Failure

Zhou,

Wang,

Zhang

et al. 2024

Biological & Pharmaceutical Bulletin

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“…Alkalization does not have to be recommended because DHA remains very insoluble at pH values below 8.5. [14][15][16] One should also be cautious during transplantation as the disease can recur on transplantation and this is why determination of native kidney disease is important. 15,16…”

Section: Discussionmentioning

confidence: 99%

“…[14][15][16] One should also be cautious during transplantation as the disease can recur on transplantation and this is why determination of native kidney disease is important. 15,16…”

Section: Discussionmentioning

confidence: 99%

Two birds one stone-two rare cases of adenine phosphoribosyl transferase deficiency

Khan

Siddini²,

Vankalakunti³

et al. 2023

Int J Res Med Sci

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Complete adenine phosphoribosyl transferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. We had a 52-year-old male with Hypertension for 18 months, presented for routine evaluation and was found to have creatinine of 4.29 mg/dl. His urine analysis was done which showed no proteinuria or urinary sediments. His USG done demonstrated normal sized kidneys with mildly increased echogenicities. He underwent a renal Biopsy for etiology determination. Similarly, we had another case of a 54-year-old female with no comorbidities who was identified to have chronic kidney disease in 2018 with a baseline creatinine of 2 mg/dl came with uremic symptoms and history of NSAID intake in June 2019. Her creatinine peaked to 7.9 mg/dl. Urine analysis displayed 1+ proteinuria with no active sediments. Her USG of the kidneys showed normal kidneys with increased echogenicities. She underwent renal biopsy for etiology determination. Biopsy of case 1 showed chronic interstitial nephritis and case 2 showed acute interstitial nephritis. Both biopsies showed deposition of 2,8-dihydroxyadenine crystals. Genetic analysis of both cases showed an exon mutation in chromosome 16.

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“…There are reports of patients with APRT deficiency undergoing living related kidney transplantations (Supplementary Tables 1 and 2). 18–54 Therefore, clinical screening or genetic testing of relatives of potential living related kidney donors should be considered.…”

Section: Discussionmentioning

confidence: 99%

Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review

Leow,

Chong,

Tan

et al. 2023

Nephrology

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Adenine phosphoribosyl transferase (APRT) deficiency is an autosomal recessive disorder and a rare cause of urolithiasis due to mutations in APRT (OMIM #102600). APRT deficiency results in increased urinary excretion of 2,8‐dihydroxyadenine (DHA) which can cause urolithiasis and kidney failure. However, with prompt diagnosis, patients with APRT deficiency can be treated with xanthine oxidoreductase inhibitors which decrease urinary DHA excretion and improve outcomes. We report a pair of siblings, an 11‐year‐old brother and his 14‐year‐old sister with compound heterozygous variants c.270del (p.Lys91Serfs*46) and c.484_486del (p.Leu162del) in APRT with variable clinical presentation of APRT deficiency. The brother presented at 17 months of age with urolithiasis and severe acute kidney injury. His elder sister remained well and asymptomatic with normal kidney function and did not develop renal calculi. Brownish disk or sphere‐like crystals with both concentric and radial markings were reported on urine microscopy in the sister on screening. The sister's diagnosis was confirmed with further laboratory evidence of absent red cell lysate APRT activity with corresponding elevated levels of urinary DHA. In conclusion, we identified a novel mutation in the APRT gene in a pair of siblings with greater phenotypic severity in the male.

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Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review

Cited by 5 publications

References 21 publications

Renal Metabolomics Study and Critical Pathway Validation of Shenkang Injection in the Treatment of Chronic Renal Failure

Renal Metabolomics Study and Critical Pathway Validation of Shenkang Injection in the Treatment of Chronic Renal Failure

Two birds one stone-two rare cases of adenine phosphoribosyl transferase deficiency

Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review

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