Case of hereditary kidney disease presenting thin basement membrane with a single heterozygous variant of Intersectin 2

Objective: Intersectin 2 (ITSN2) is reported to cause hereditary nephrotic syndrome, but the number of cases remains quite small. We observed a case of progressive renal dysfunction and family history for end-stage kidney disease with a known single heterozygous ITSN2 variant. This study aimed to re...

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Detalles Bibliográficos
Autores principales: Kondo, Madoka, Mori, Takayasu, Oshita, Tadashi, Ohashi, Atsuki, Sohara, Eisei, Uchida, Shinichi, Maeda, Yoshitaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Association of Rural Medicine 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10079461/
https://www.ncbi.nlm.nih.gov/pubmed/37032986
http://dx.doi.org/10.2185/jrm.2022-048

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