Naslov
Variation in presentation and presence of DNA adducts and p53 mutations in patients with endemic nephropathy--an environmental form of the aristolochic acid nephropathy

Autori
Karanović, Sandra ; Vuković Lela, Ivana ; Jelaković, Bojan ; Dickman, Kathleen ; Kovač Peić, Anamarija ; Dittrich, Damir ; Matijević, Vesna ; Fernandes, Andrea ; Miller, Frederick

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts of the Annual ASN Kidney Week 2012 / - , 2012, 885-885

Skup
Annual ASN Kidney Week

Mjesto i datum
San Diego (CA), Sjedinjene Američke Države, 30.10.2012. - 04.11.2012

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Aristolochic acid; Endemic nephropathy; Urothelial cell cancer

Sažetak
Endemic nephropathy (EN) and associated upper urothelial cancers (UUC) are a form of aristolochic acid nephropathy (AAN), in which ingestion of bread contaminated with Aristolochia leads to chronic dietary intoxication. This abstract presents the cases of 3 members of the same family who showed different EN clinical courses and pathological spectra. Although they shared the same household and familiar environment for 18 years and were therefore similarly exposed to aristolochic acid (AA), they exhibited different clinical courses. EN can present as renal insufficiency or UUC alone, or in combination, regardless of which develops first. Moreover, UUC commonly affects both the right and the left sides, and our study clearly showed this. The patient in Case 1 had UUC with typical EN histopathological signs, whereas that in Case 2 had right UUC without EN followed by left UUC with typical EN histopathological signs. In contrast, the patient in Case 3 initially showed renal insufficiency, complicated afterwards by right UUC, and later on by left UUC with histopathological end-stage chronic changes but without typical EN changes. AA-DNA adducts and specific p53 mutational spectra (A:T→ T:A transversion) were found in tissues of cases 1 and 2. For Case 3, the appropriate tissue sample to detect adducts couldn’t have been obtained. This patient possibly had specific p53 mutations in exons that were not examined. The diverse clinical courses reported herein could be attributed to differences in metabolic activation or detoxification of AA and/or DNA repair resulting from different genetic polymorphisms.

Izvorni jezik
Engleski

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