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

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Abstract

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 patients. To provide answers on how and when to make the diagnosis of genetic renal phosphate leak and how medical management prevents the recurrences and changes patients’ life, we conducted a retrospective study including nine patients with recurrent nephrolithiasis and a confirmed genetic mutation of a phosphate transporter between 2008 and 2019 in our multidisciplinary center at the Pitié Salpetriere Hospital, Paris, France. We compared the number and the annual rate of urological intervention before and after the diagnosis and management using the Wilcoxon test. A qualitative survey was done to evaluate the quality of life of patients. A total of 9 patients were included in this study. Patient baseline characteristics and elements supporting the diagnosis are described. We showed an effective decrease in urological intervention number (p = 0.0078) and annual rate (p = 0.0117) after the diagnosis and the appropriate management, and an improvement in the patients’ quality of life. The diagnosis and the appropriate management of genetic renal phosphate leak disorder improve the quality of life by preventing stone recurrence and decreasing the number of surgical intervention.

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Author information

Authors and Affiliations

  1. Department of Nephrology, AP-HP, Pitie Salpetriere Hospital, 48 Boulevard de l’Hopital, 75013, Paris, France

    Isabelle N. Tostivint, Rita G. Araman, Sihem Merazga, Ziad Lalmi, Imane Chaoui, Gilbert Deray & Corinne Isnard-Bagnis

  2. Department of Nephrology, The Middle East Institute of Health, Bsalim, Lebanon

    Rita G. Araman

  3. Department of Clinical Chemistry, University Hospital of Liege, Liege, Belgium

    Vincent Castiglione

  4. Department of Metabolic Biochemistry, AP-HP, Pitie Salpetriere Hospital, Paris, France

    Rana Alkouri & Laurence Pieroni

  5. Department of Genetics, AP-HP, European Hospital Georges Pompidou, Paris, France

    Rosa Vargas-Poussou

  6. Department of Urology, AP-HP, Pitie Salpetriere Hospital, Paris, France

    Pierre Conort

  7. Department of Rheumatology, AP-HP, Pitie Salpetriere Hospital, Paris, France

    Rachida Inaoui

  8. Department of Nutrition and Dietetics, AP-HP, Pitie Salpetriere Hospital, Paris, France

    Marie-Paule Dousseaux

  9. Department of Nephrology, Peupliers Private Hospital, Paris, France

    Hassan Izzedine

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  1. Isabelle N. Tostivint
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Correspondence to Isabelle N. Tostivint.

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Tostivint, I.N., Araman, R.G., Castiglione, V. et al. How the diagnosis and the management of genetic renal phosphate leak impact the life of kidney stone formers?. Urolithiasis 50, 319–331 (2022). https://doi.org/10.1007/s00240-022-01316-3

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