Enfermedades renales que cursan con hipomagnesemia. Comentarios acerca de una nueva tubulopatía hipomagnesémica de origen genético

  1. Garcia-Nieto, Víctor M.
  2. Claverie-Martin, Félix
  3. Moraleda-Mesa, Teresa
  4. Perdomo-Ramírez, Ana 1
  5. Fraga-Rodríguez, Gloria Ma
  6. Luis-Yanes, María Isabel
  7. Ramos-Trujillo, Elena 1
  1. 1 Universidad de La Laguna
    info

    Universidad de La Laguna

    San Cristobal de La Laguna, España

    ROR https://ror.org/01r9z8p25

Journal:
Nefrología

ISSN: 0211-6995

Year of publication: 2023

Type: Article

DOI: 10.1016/J.NEFRO.2023.02.008 GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Nefrología

Abstract

Renal diseases associated with hypomagnesemia are a complex and diverse group of tubulopathies caused by mutations in genes encoding proteins that are expressed in the thick ascending limb of the loop of Henle and in the distal convoluted tubule. In this paper, we review the initial description, the clinical expressiveness and etiology of four of the first hypomagnesemic tubulopathies described: Type 3 Bartter and Gitelman diseases, Autosomal recessive hypomagnesemia with secondary hypocalcemia and Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The basic biochemical patterns observed in renal tubular hypomagnesemias and the modalities of transport and interaction that occur between the transporters involved in the reabsorption of magnesium in the distal convoluted tubule are described below. Finally, the recent report of a new renal disease with hypomagnesemia, Type 2 hypomagnesemia with secondary hypocalcemia caused by reduced TRPM7 channel activity is described.

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