Hemizygous loss of function mutations in CLCN5 causing end-stage kidney disease without Dent disease phenotype

Dent disease type 1 is suspected in the presence of a complete phenotype of low molecular weight (LMW) proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, nephrolithiasis, haematuria, hypophosphatemia or chronic kidney disease (CKD). We present two brothers who presented...

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Detalles Bibliográficos
Autores principales: Leggatt, Gary, Gast, Christine, Gilbert, Rodney D, Veighey, Kristin, Rahman, Tahmina, Ennis, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Exceptional Case
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871842/
https://www.ncbi.nlm.nih.gov/pubmed/36726441
http://dx.doi.org/10.1093/ckj/sfac127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871842/
https://www.ncbi.nlm.nih.gov/pubmed/36726441
http://dx.doi.org/10.1093/ckj/sfac127

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