000			nab a22 7a 4500
999			_c17056 _d17056
003			PC17056
005			20221110133409.0
008			221110b xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aspa, eng
100			_91220 _aMartínez González, Miguel Ángel _eAnatomía Patológica
245	0	0	_aAmiloidosis renal hereditaria por depósito de apolipoproteína AI: un reto diagnóstico. _h[caso clínico]
260			_bNefrología : publicación oficial de la Sociedad Española Nefrologia, _c2015
300			_a35(3):322-7.
500			_aFormato Vancouver: Samillán Sosa Kdel R, Sención Martínez G, Lopes Martín V, Martínez González MA, Solé M, Arostegui JL et al. Amiloidosis renal hereditaria por depósito de apolipoproteína AI: un reto diagnóstico. Nefrologia. 2015;35(3):322-7.
501			_aPMID: 26299174
504			_aContiene 31 referencias
520			_aHereditary renal amyloidosis is an autosomal dominant condition with considerable overlap with other amyloidosis types. Differential diagnosis is complicated, but is relevant for prognosis and treatment. We describe a patient with nephrotic syndrome and progressive renal failure, who had a mother with renal amiloidosis. Renal biopsy revealed amyloid deposits in glomerular space, with absence of light chains and protein AA. We suspected amyloidosis with fibrinogen A alpha chain deposits, which is the most frequent cause of hereditary amyloidosis in Europe, with a glomerular preferential affectation. However, the genetic study showed a novel mutation in apolipoprotein AI. On reviewing the biopsy of the patient's mother similar glomerular deposits were found, but there were significant deposits in the renal medulla as well, which is typical in APO AI amyloidosis. The diagnosis was confirmed by immunohistochemistry. Apo AI amyloidosis is characterized by slowly progressive renal disease and end-stage renal disease occurs aproximately 3 to 15 years from initial diagnosis. Renal transplantation offers an acceptable graft survival and in these patients with hepatorenal involvement simultaneous liver and kidney transplantation could be considered.
710			_9330 _aServicio de Anatomía Patológica
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc17056.pdf _ySolicitar documento
942			_2ddc _cCAS _n0