Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Akyol Onder EN

PROVIDER: S-EPMC7183408 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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

Akyol Onder Esra Nagehan EN Ozkol Mine M Nese Nalan N Taneli Can C Cankorur Osman Orkun OO Ozunan Ipek I

Journal of pediatric genetics 20190923 2

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, ...[more]

PMID: 32341815

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Project description:BackgroundXanthogranulomatous pyelonephritis (XGP) is an inflammatory condition of the kidney and its treatment most often involves a combination of antibiotics and nephrectomy. This study aimed to define the clinical features and management of XGP, focusing on microbiological aspects and antibiotic therapy.MethodsWe performed a retrospective study of 27 cases of XGP diagnosed between January 2001 and January 2020 to analyse their clinical and management characteristics. In addition, a literature review was conducted of XGP case series covering the period from 2000-2020. We searched PubMed for case series through April 2020 without language restrictions. Studies reporting case series of XGP (more than ten cases) were included if they were relevant to this study.ResultsTwenty-seven patients were diagnosed with XGP, and 26 of them were histologically proven to have XGP. A total of 81.5% of the patients were female and the mean age was 59.6 years (SD 19.2). The most frequent symptoms were flank pain (70.4%) and fever (59.3%), while 77.8% of patients had renal stones. Proteus mirabilis was detected in the urine culture in 18.5% of patients, followed by detection of Escherichia coli in 14.8% of patients. The computed tomography (CT) findings included perirenal (29.6%) or pararenal (29.6%) involvement in the majority of patients. Twenty-six patients underwent nephrectomy. Piperacillin/tazobactam and ceftriaxone were the most commonly prescribed antibiotics for treatment. The reported piperacillin/tazobactam and ceftriaxone resistance rates were 14.3% and 16.6%, respectively. Twenty-six case series were included in the literature review, reporting 693 cases in total.ConclusionWe found well-established characteristics of XGP patients among series in terms of previous history, clinical, laboratory and imaging findings, and operative and postoperative outcomes. It is important to know the clinical presentation and potential severity of XGP, as well as the most frequently involved microorganisms and their antibiotic resistance profiles, to select the most appropriate antibiotic therapy.

Dataset Information

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

Publications

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

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