Open AccessFocal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome)
Author(s) -
Esra Nagehan Akyol Önder,
Mine Özkol,
Nalan Neşe,
Can Taneli,
Osman Orkun Cankorur,
İpek Özünan
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1697624
Subject(s) - fibrosis , brachydactyly , xanthogranulomatous pyelonephritis , infiltration (hvac) , pathology , inflammation , medicine , chromosome , kidney , immunology , biology , genetics , gene , physics , short stature , thermodynamics , nephrectomy
Xanthogranulomatous pyelonephritis (XGP) is characterized by destruction of the renal parenchyma and granulomatous inflammation with lipid-laden foamy macrophages as well as inflammatory infiltration and intensive renal fibrosis. It generally occurs in adults, especially those in the fifth and sixth decades of life, but is occasionally seen in children as well. Brachydactyly mental retardation (BDMR) syndrome (OMIM 600430) is caused by a small deletion of chromosome 2q37 and is a rare condition, with roughly 100 cases reported worldwide. Here, we describe the case of a patient with deletion of chromosome 2q37, which is known as the BDMR syndrome, and XGP.