Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy Enfermedades renales que cursan con hipomagnesemia. Comentarios acerca de una nueva tubulopatía hipomagnesémica de origen genético
Garcia-Nieto, Víctor Manuel (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife))
Claverie-Martin, Felix (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife))
Moraleda-Mesa, Teresa (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife))
Perdomo-Ramirez, Ana (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife))
Fraga Rodríguez, Gloria María (Institut de Recerca Sant Pau)
Luis-Yanes, María Isabel (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife))
Ramos-Trujillo, Elena (Universidad de La Laguna)
Universitat Autònoma de Barcelona

Date:	2024
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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Language:	Castellà
Document:	Article de revisió ; recerca ; Versió publicada
Subject:	Hipomagnesemia ; Asa de Henle ; Túbulo contorneado distal ; Canal TRPM7 ; Tubulopatías
Published in:	Nefrología (Badalona. English), Vol. 44 Núm. 1 (enero 2024) , p. 23-31, ISSN 2013-2514

DOI: 10.1016/j.nefro.2023.02.008

9 p, 1018.4 KB

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