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Prevalence of kidney failure in adults diagnosed with hereditary tubulopathies.
Betton, Maureen; Blanchard, Anne; Houillier, Pascal; Vargas-Poussou, Rosa; Hureaux, Marguerite.
Afiliación
  • Betton M; Faculté de Médecine, Sorbonne Université, Paris, France.
  • Blanchard A; Service de Médecine Génomique des Maladies Rares, Groupe Hospitalier Universitaire Centre, Site Hôpital Européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, 75015, Paris, France.
  • Houillier P; Université Paris Cité, Paris, France.
  • Vargas-Poussou R; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France.
  • Hureaux M; Centre d'Investigation Clinique 1418, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, 75015, Paris, France.
J Nephrol ; 2024 Sep 11.
Article en En | MEDLINE | ID: mdl-39261397
ABSTRACT

BACKGROUND:

Inherited tubulopathies are rare kidney diseases with few data available in the literature regarding their long-term renal prognosis. This study aimed to evaluate the prevalence of kidney failure in adults with confirmed genetic tubulopathy and to describe the corresponding clinical and genetic findings.

METHODS:

In this observational cohort study, we focused on genetic tubulopathies assumed to impact kidney function. In all adult patients genetically diagnosed in our laboratory between 2001 and 2019, we estimated Glomerular Filtration Rate (eGFR) at diagnosis using the Modification of diet in renal disease (MDRD) formula. Kidney failure was defined as an eGFR < 60 ml/min/1.73 m2.

RESULTS:

A total of 2145 patients underwent genetic testing, confirming a genetic tubulopathy in 1031 cases (48%). We identified 116 patients out of 885 with available data with kidney failure, mostly diagnosed with Dent disease and distal renal tubular acidosis (respectively, 31% and 20%), followed by familial hypomagnesemia with hypercalciuria and nephrocalcinosis and renal hypophosphatemia/infantile hypercalcemia. Renal prognosis appeared particularly impacted in familial hypomagnesemia with hypercalciuria and nephrocalcinosis and Dent disease, while preserved in Gitelman syndrome.

CONCLUSION:

In this cohort, 13% of adults with genetic tubulopathy had kidney failure at diagnosis, with this rate varying greatly according to tubulopathies and suggesting a significant impact on renal prognosis. Even in adults, genetic analyses yield a good diagnostic rate in selected patients, and should be performed as soon as possible, in order to improve the renal management of patients and their relatives.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Nephrol Asunto de la revista: NEFROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Italia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Nephrol Asunto de la revista: NEFROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Italia