A novel and two recurrent UMOD mutations in autosomal dominant tubulointerstitial kidney disease (ADTKD): a case series and literature review

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare hereditary disorder characterized by slowly progressive loss of kidney function with absent or mild proteinuria and tubulointerstitial fibrosis. Mutations in the UMOD gene represent one of the primary genetic etiologies of ADTKD....

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Principais autores:	Yedong Yu, Jianguang Gong, Lin Liu, Lina Shao, Xiaogang Shen, Bin Zhu
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Taylor & Francis Group 2026-12-01
coleção:	Renal Failure
Assuntos:	UMOD autosomal dominant tubulointerstitial kidney disease ADTKD-UMOD next-generation sequencing mutation spectrum genetic diagnosis
Acesso em linha:	https://www.tandfonline.com/doi/10.1080/0886022X.2026.2653343
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