[en] 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.
Disciplines :
Urology & nephrology
Author, co-author :
Tostivint, Isabelle N ; Department of Nephrology, AP-HP, Pitie Salpetriere Hospital, 48 Boulevard de l'Hopital, 75013, Paris, France. isabelle.tostivint@aphp.fr
Araman, Rita G; Department of Nephrology, AP-HP, Pitie Salpetriere Hospital, 48 Boulevard de l'Hopital, 75013, Paris, France ; Department of Nephrology, The Middle East Institute of Health, Bsalim, Lebanon
CASTIGLIONE, Vincent ; Centre Hospitalier Universitaire de Liège - CHU > > Service de chimie clinique
Alkouri, Rana; Department of Metabolic Biochemistry, AP-HP, Pitie Salpetriere Hospital, Paris, France
Vargas-Poussou, Rosa; Department of Genetics, AP-HP, European Hospital Georges Pompidou, Paris, France
Conort, Pierre; Department of Urology, AP-HP, Pitie Salpetriere Hospital, Paris, France
Inaoui, Rachida; Department of Rheumatology, AP-HP, Pitie Salpetriere Hospital, Paris, France
Dousseaux, Marie-Paule; Department of Nutrition and Dietetics, AP-HP, Pitie Salpetriere Hospital, Paris, France
Merazga, Sihem; Department of Nephrology, AP-HP, Pitie Salpetriere Hospital, 48 Boulevard de l'Hopital, 75013, Paris, France
Lalmi, Ziad; Department of Nephrology, AP-HP, Pitie Salpetriere Hospital, 48 Boulevard de l'Hopital, 75013, Paris, France
Chaoui, Imane; Department of Nephrology, AP-HP, Pitie Salpetriere Hospital, 48 Boulevard de l'Hopital, 75013, Paris, France
Pieroni, Laurence; Department of Metabolic Biochemistry, AP-HP, Pitie Salpetriere Hospital, Paris, France
Deray, Gilbert; Department of Nephrology, AP-HP, Pitie Salpetriere Hospital, 48 Boulevard de l'Hopital, 75013, Paris, France
Isnard-Bagnis, Corinne; Department of Nephrology, AP-HP, Pitie Salpetriere Hospital, 48 Boulevard de l'Hopital, 75013, Paris, France
Izzedine, Hassan; Department of Nephrology, Peupliers Private Hospital, Paris, France
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