A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the <i>SLC34A1</i> Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report

A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the <i>SLC34A1</i> Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report

Serum phosphate concentration is regulated by renal phosphate reabsorption and mediated by sodium–phosphate cotransporters. Germline mutations in genes encoding these cotransporters have been associated with clinical phenotypes, variably characterized by hyperphosphaturia, hypophosphatemia, recurren...

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Bibliographic Details
Main Authors: Francesca Giusti, Francesca Marini, Hatim Al-alwani, Elena Marasco, Paolo Garagnani, Aliya A. Khan, Maria Luisa Brandi
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:International Journal of Molecular Sciences
Subjects:
<i>SLC34A1</i> gene
autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis type 1
genetic testing
gene mutation
recurrent nephrolithiasis
bone mass loss
Online Access:https://www.mdpi.com/1422-0067/24/24/17289

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https://www.mdpi.com/1422-0067/24/24/17289

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