Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c.

doi:10.1016/j.kint.2024.08.035

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Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c.

Kidney international - 1 Jan 2025

Brunkhorst Max, Brunkhorst Lena, Martens Helge, Papizh Svetlana, Besouw Martine, Grasemann Corinna, Turan Serap, Sikora Przemyslaw, Chromek Milan, Cornelissen Elisabeth, Fila Marc, Lilien Marc, Allgrove Jeremy, Neuhaus Thomas J, Eltan Mehmet, Espinosa Laura, Schnabel Dirk, Gokce Ibrahim, González-Rodríguez Juan David, Khandelwal Priyanka, Keijzer-Veen Mandy G, Lechner Felix, Szczepańska Maria, Zaniew Marcin, Bacchetta Justine, Emma Francesco, Haffner Dieter

Abstract excerpt

Pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter 2a and 2c are rare causes of phosphate wasting. Since data on presentation and outcomes are scarce, we collected clinical, biochemical and genetic data via an online questionnaire and the support of European professional organizations. One hundred thirteen patients (86% children) from 90 families and 17 countries with pathogenic or...

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Heterozygote
Hypophosphatemia
Infant, Newborn
Nephrocalcinosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Parathyroid Hormone

Phosphates

Prevalence

Renal Insufficiency, Chronic

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Open in PubMed

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PMID: 39461557
DOI: 10.1016/j.kint.2024.08.035

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