Akyol Onder Esra Nagehan, Ozkol Mine, Nese Nalan, Taneli Can, Cankorur Osman Orkun, Ozunan Ipek
Department of Paediatric Nephrology, School of Medicine, Manisa Celal Bayar University, Manisa, Turkey.
Department of Radiology, School of Medicine, Manisa Celal Bayar University, Manisa, Turkey.
J Pediatr Genet. 2020 Jun;9(2):114-116. doi: 10.1055/s-0039-1697624. Epub 2019 Sep 23.
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.
黄色肉芽肿性肾盂肾炎（XGP）的特征是肾实质破坏、伴有充满脂质的泡沫巨噬细胞的肉芽肿性炎症以及炎症浸润和严重的肾纤维化。它通常发生于成年人，尤其是50至60岁的人群，但偶尔也可见于儿童。短指智力发育迟缓（BDMR）综合征（OMIM 600430）由2号染色体q37区域的小片段缺失引起，是一种罕见疾病，全球报道的病例约有100例。在此，我们描述了一名患有2号染色体q37缺失（即BDMR综合征）并伴有XGP的患者病例。
