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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2022
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| Materias: | |
| 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 |