peritonitis meconial y fibrosis quística meconium peritonitis and cystic fibrosis
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ID: 226319
2008
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Abstract
La fibrosis quística (FQ) es una enfermedad génetica autosómica recesiva causada por más de 600 mutaciones conocidas del gen que codifica para la proteína de la membrana: Regulador de la membrana F.Q (CFTR). Es una enfermedad que en el período neonatal puede manifestarse por distres respiratorio, colestasis intrahepática e íleo meconial. Presentamos el caso de un recién nacido del sexo masculino, parto por cesárea, en quien se sospechó el diagnóstico de FQ. En ecografías prenatales se apreciaron signos de peritonitis meconial por íleo meconial. Fue intervenido quirúrgicamente, encontrando que gran cantidad de fibrina cubría todas las asas intestinales con adherencias, presentando una perforación en la unión yeyuno ileal, segmento ocupado por meconio duro y compacto, realizando íleostomía. Presenta empeoramiento clínico y hemodinámico, con íctero colestásico, distrés respiratorio que va agravando hasta presentar signos de shock séptico y fallo multiorgánico, falleciendo a los seis días de edad. El estudio anátomo-patológico post-mortem fue compatible con FQ.
Cystic fibrosis (CF) is a genetic autosomal recesive disease caused by more than 600 known mutatins of the gene that codifies for the protein of the membrane: Regulator of the CF transmembrane (CFTR). It is a disease of the neonatalperiod that can be manifested by respiratory distress, intrahepatic cholestasis and meconium ileus. A case of amale newborn (throug a cesarean section delivery), suspecting the diagnosis of Cystic Fibrosis is reported. In prenatal echographies signs of meconium peritonitis due to meconium ileus was observed, the patient underwent a surgery where a great quantity of fibrin covering all intestinalloops with adherences showing a perforation inthe ileum jejune join was observed. The segment was filled with a hard andcompact meconium. An ileostomy was performed, then the patient presented a clinical and hemodynamic worsening with cholestatic jaundice and respiratory distress deteriorating his condition up to showing signs of septic shock and multiple-organ failure, dying at 6 days old. The post-mortem pathologic study matched with a cystic fibrosis.
Cystic fibrosis (CF) is a genetic autosomal recesive disease caused by more than 600 known mutatins of the gene that codifies for the protein of the membrane: Regulator of the CF transmembrane (CFTR). It is a disease of the neonatalperiod that can be manifested by respiratory distress, intrahepatic cholestasis and meconium ileus. A case of amale newborn (throug a cesarean section delivery), suspecting the diagnosis of Cystic Fibrosis is reported. In prenatal echographies signs of meconium peritonitis due to meconium ileus was observed, the patient underwent a surgery where a great quantity of fibrin covering all intestinalloops with adherences showing a perforation inthe ileum jejune join was observed. The segment was filled with a hard andcompact meconium. An ileostomy was performed, then the patient presented a clinical and hemodynamic worsening with cholestatic jaundice and respiratory distress deteriorating his condition up to showing signs of septic shock and multiple-organ failure, dying at 6 days old. The post-mortem pathologic study matched with a cystic fibrosis.
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| Authors | ;Sergio Piloña Ruíz;Omar León Vara Cuesta;Vilma Llabona Chávez;Jesús Juan Rodríguez;Yurisbelkis Pérez Lorenzo |
| Journal | Frontiers in endocrinology |
| Year | 2008 |
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