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        "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">El s&#237;ndrome hemol&#237;tico ur&#233;mico &#40;SHU&#41; asocia anemia hemol&#237;tica&#44; trombocitopenia e insuficiencia renal&#46; La mayor&#237;a de los casos est&#225;n relacionados con las toxinas &#40;verotoxinas&#41; producidas por <span class="elsevierStyleItalic">Escherichia coli</span> 0157&#58;H7 y generalmente tienen un buen pron&#243;stico renal&#46; Existen formas at&#237;picas&#44; con peor pron&#243;stico&#44; que pueden ser secundarias&#44; entre otras causas&#44; a mutaciones en el gen codificador del factor H&#44; prote&#237;na que regula la activaci&#243;n de la v&#237;a alternativa del complemento&#46; Su d&#233;ficit&#44; produce una activaci&#243;n continua del complemento&#44; da&#241;ando las c&#233;lulas endoteliales de los capilares&#46;</p><p class="elsevierStyleSimplePara elsevierViewall">Presentamos un caso cl&#237;nico de SHU incompleto &#40;ausencia de plaquetopenia y uremia&#41; y at&#237;pico en el que se detect&#243; una hipocomplementemia secundaria a un d&#233;ficit parcial de factor H&#44; cuya evoluci&#243;n fue favorable&#46; Previo al inicio de los s&#237;ntomas&#44; el paciente present&#243; una infecci&#243;n por <span class="elsevierStyleItalic">Campylobacter</span> que actu&#243; como agente precipitante del cuadro&#46; El an&#225;lisis gen&#233;tico demostr&#243; una mutaci&#243;n en heterocigosis &#40;C846T&#41; localizada en el dominio SCR4 que genera un cambio de amino&#225;cido en la mol&#233;cula del factor H &#40;Pro240Leu&#41;&#46; Es posible que dicha mutaci&#243;n haya sido la causante del d&#233;ficit parcial del factor H y del cuadro que present&#243; al ingreso&#46;</p>"
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Notas Clínicas
Síndrome hemolítico urémico incompleto asociado a déficit parcial de factor H
Incomplete hemolytic uremic syndrome associated with partial factor H deficiency
I. Olaciregui Echeniquea,
Corresponding author
iolaciregui@chdo.osakidetza.net

Correspondencia: Dr. I. Olaciregui Echenique. P.° Dr. Beguiristain, s/n. 20014. San Sebastián. España.
, R. Areses Trapoteb, M. Ubetagoyena Arrietab, I. Sota Busseloa, C. García Pardosa, P. Echaniz Aizpuruc
a Unidades de Lactantes, Servicio de Pediatría
b Unidades de Nefrología Pediátrica. Servicio de Pediatría
c Unidades de Servicio de Inmunología. Hospital Donostia. San Sebastián. España
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Article information
ISSN: 16954033
Original language: Spanish
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