Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome).
2q37 deletion syndrome
brachydactyly mental retardation syndrome
xanthogranulomatous pyelonephritis
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
09
06
2019
accepted:
19
08
2019
entrez:
29
4
2020
pubmed:
29
4
2020
medline:
29
4
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32341815
doi: 10.1055/s-0039-1697624
pii: 1900043
pmc: PMC7183408
doi:
Types de publication
Case Reports
Langues
eng
Pagination
114-116Informations de copyright
© Thieme Medical Publishers.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
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