A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome.
branchio-oto-renal
de novo
obesity-related nephropathy
proteinuria
trio analysis
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
01 Jul 2022
01 Jul 2022
Historique:
pubmed:
7
12
2021
medline:
7
7
2022
entrez:
6
12
2021
Statut:
ppublish
Résumé
Branchio-oto-renal syndrome is an autosomal dominant disorder characterized by branchial anomalies, hearing loss, and renal urinary tract malformations. We herein report a 32-year-old Japanese man with a right preauricular pit, bilateral mixed hearing loss, and malposition of the right kidney who presented with proteinuria. The findings of a left kidney biopsy were compatible with a perihilar variant of secondary focal segmental glomerular sclerosis. A trio exome analysis conducted among the patient and his parents failed to identify the causal gene variant, despite a sporadic pattern. His kidney function remained stable for 11 years with an angiotensin II receptor blocker.
Identifiants
pubmed: 34866102
doi: 10.2169/internalmedicine.8508-21
pmc: PMC9334246
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2033-2038Références
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