How the diagnosis and the management of genetic renal phosphate leak impact the life of kidney stone formers?

IN Tostivint, RG Araman, V Castiglione, R Alkouri… - Urolithiasis, 2022 - Springer
Genetic renal phosphate leak is one of the rare disorders in recurrent stone formers with
absorptive hypercalciuria. Diagnosis and appropriate management may change the life of …

Phosphaturia in kidney stone formers: Still an enigma

V Walker - Advances in Clinical Chemistry, 2019 - Elsevier
Calcium kidney stones are common worldwide. Most are idiopathic and composed of
calcium oxalate. Calcium phosphate is present in around 80% and may initiate stone …

Distinct phenotype of kidney stone formers with renal phosphate leak

NA Dhayat, D Lüthi, L Schneider… - Nephrology Dialysis …, 2019 - academic.oup.com
Background Hypercalciuria is the most frequent metabolic disorder encountered in kidney
stone formers (SF). Reduced renal phosphate reabsorption (ie renal phosphate leak) was …

Evidence for a role of PDZ domain-containing proteins to mediate hypophosphatemia in calcium stone formers

KJ Bergsland, FL Coe, JH Parks… - Nephrology Dialysis …, 2018 - academic.oup.com
Background Hypophosphatemia (HYP) is common among calcium stone formers (SFs) and
in rare cases is associated with mutations in sodium-phosphate cotransporters or in Na+/H+ …

[HTML][HTML] Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting

F Petzold, R Schönauer, A Werner, J Halbritter - Nutrients, 2023 - mdpi.com
Apart from increased fluid intake, patients with kidney stone disease (KSD) due to renal
phosphate wasting require specific metaphylaxis. NaPi2a, NaPi2c, and NHERF1 regulate …

[HTML][HTML] Frequency of renal phosphate leak among patients with calcium nephrolithiasis

D Prié, V Ravery, L Boccon-Gibod, G Friedlander - Kidney international, 2001 - Elsevier
Frequency of renal phosphate leak among patients with calcium nephrolithiasis.
Background Nephrolithiasis is a frequent disorder affecting 10 to 15% of the population in …

[HTML][HTML] Phosphaturia as a promising predictor of recurrent stone formation in patients with urolithiasis

YS Ha, DU Tchey, HW Kang, YJ Kim… - Korean Journal of …, 2010 - synapse.koreamed.org
Purpose Recent studies have suggested that renal phosphate leakage and the associated
phosphaturia are significant underlying causes of calcium urolithiasis. The aims of this study …

[HTML][HTML] NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak

JY Lapointe, J Tessier, Y Paquette, B Wallendorff… - Kidney international, 2006 - Elsevier
A decrease in renal phosphate reabsorption with mild hypophosphatemia (phosphate leak)
is found in some hypercalciuric stone-formers. The NPT2a gene encodes a sodium …

[HTML][HTML] Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting

R Schönauer, F Petzold, W Lucinescu, A Seidel… - Urolithiasis, 2019 - Springer
Loss-of-function mutations of SLC34A3 represent an established cause of a distinct renal
phosphate wasting disorder termed hereditary hypophosphatemic rickets with hypercalciuria …

Renal phosphate control as a reliable predictive factor of stone recurrence

YJ Kim, TH Kim, SJ Yun, ME Kim, WJ Kim… - The Journal of …, 2009 - auajournals.org
Purpose: Recent studies have suggested a defect in phosphate balance as a significant
underlying cause of calcium urolithiasis. In this study we assessed the influence of …