Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome)

• DOI: 10.1055/s-0039-1697624
• Publication Date: 2019-09-23T23:21:05Z
• Authors: Esra Nagehan Akyo...; Mine Ozkol; Nalan Nese; Can Taneli; Osman Orkun Cankorur; Ipek Ozunan
• Keywords: Brachydactyly; Xanthogranulomatous pyelonephritis; Infiltration (HVAC)

Abstract Xanthogranulomatous pyelonephritis (XGP) is characterized by destruction of the renal parenchyma and granulomatous inflammation with lipid-laden foamy macrophages as well inflammatory infiltration intensive fibrosis. It generally occurs in adults, especially those fifth sixth decades life, but occasionally seen children well. Brachydactyly mental retardation (BDMR) syndrome (OMIM 600430) caused a small deletion chromosome 2q37 rare condition, roughly 100 cases reported worldwide. Here, we describe case patient 2q37, which known BDMR syndrome, XGP.