000			nab a22 7a 4500
999			_c16716 _d16716
003			PC16716
005			20220208130442.0
008			220208b xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aspa, eng
100			_92384 _aCavero Escribano, Teresa _eNefrología
100			_92572 _aRabasco Ruiz, Cristina _eNefrología
100			_91485 _aHernández Martínez, Eduardo _eNefrología
100			_91488 _aPraga Terente, Manuel _eNefrología
100			_9619 _aMolero Bermejo, Aída Isabel _eAnatomía Patológica
100			_92665 _aBlázquez Encinar, Alberto _eInstituto de Investigación i+12
100			_9345 _aMartín Casanueva, Miguel Ángel _eBioquímica Clínica
245	0	0	_a¿Cuándo debe sospechar un nefrólogo una enfermedad mitocondrial?. _h[revisión]
260			_bNefrología : publicación oficial de la Sociedad Española Nefrologia, _c2015
300			_a35(1):6-17.
500			_aFormato Vancouver: Cavero T, Rabasco C, Molero A, Blázquez A, Hernández E, Martín MA et al. ¿Cuándo debe sospechar un nefrólogo una enfermedad mitocondrial?. Nefrologia. 2015;35(1):6-17.
501			_aPMID: 25611829
504			_aContiene 54 referencias
520			_aMitochondrial diseases, taking into account those that affect the processes of the respiratory chain (RC) and mitochondrial oxidative phosphorylation system (OXPHOS), make up a relatively frequent group within rare diseases that usually have multisystem involvement, a very variable phenotypic expression and a complex genetic base. Renal involvement is uncommon, with the tubule being the most affected, specifically its proximal portion, developing into full Toni-Debré-Fanconi syndrome in the most serious cases. However, in some cases the glomerulus is involved, fundamentally in focal segmental glomerulosclerosis form (FSGS), expressed by proteinuria and renal failure. It is important that the Nephrologist keeps in mind the possibility of a mitochondrial disease in patients with this type of renal involvement that present clinical data with these characteristics, especially diabetes mellitus and deafness. In cases with FSGS, a correct diagnosis will avoid the inappropriate use of immunosuppressive medication. Specific treatments do not exist for the majority of mitochondrial diseases, but it is likely that the intense research that currently exists for these diseases will eventually produce effective treatment possibilities.
710			_986 _aServicio de Nefrología
710			_9330 _aServicio de Anatomía Patológica
710			_9317 _aServicio de Bioquímica Clínica
710			_9625 _aInstituto de Investigación imas12
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc16716.pdf _ySolicitar documento
942			_2ddc _cREV _n0