%0 Journal Article
%T S¨ªndrome de Alagille Alagille syndrome
%A Yuri Betancourt Guerra
%A Rosa Mar¨ªa Espino Delgado
%A Yanet Reyes Mej¨ªas
%A Marien Villafa£¿a Carmenate
%J Revista Cubana de Pediatr£¿-a
%D 2013
%I Editorial Ciencias M¨¦dicas
%X El s¨ªndrome de Alagille es un trastorno gen¨¦tico cuya manifestaci¨®n fundamental es una colestasis cr¨®nica producida por una hipoplasia de las v¨ªas biliares intrahep¨¢ticas, y se asocia a malformaciones cong¨¦nitas cardiacas, renales y esquel¨¦ticas en pacientes con un fenotipo peculiar. Tiene una frecuencia de aparici¨®n de 1 por cada 100 000 nacidos vivos. La lesi¨®n histol¨®gica est¨¢ dada por una reducci¨®n en la relaci¨®n entre el n¨²mero de conductos biliares y el de los espacios porta. Tiene una mortalidad global de un 20 %, y los pacientes pueden llegar a necesitar transplante hep¨¢tico para su supervivencia. Se describe un paciente de 6 a os de edad, femenina, que ingresa a los 23 d¨ªas de nacida en el Hospital Pedi¨¢trico "Dr. Eduardo Agramonte Pi a" por bronconeumon¨ªa, pero durante su estancia en el hospital se detecta s¨ªndrome colest¨¢sico dado por ¨ªctero y acolia, adem¨¢s de estenosis pulmonar y facies caracter¨ªstica. Se realiza biopsia hep¨¢tica compatible con s¨ªndrome de Alagille. El caso fue evaluado y se diagnostica la enfermedad por la presencia de criterios diagn¨®sticos. Evoluciona de forma estable, con seguimiento por consulta externa hasta los 6 a os, cuando ingresa en el Hospital Pedi¨¢trico "William Soler" para transplante hep¨¢tico. Alagille syndrome is a genetic disorder and its main manifestation is chronic cholestasis caused by intrahepatic bile duct hypoplasia. It is associated with cardiac, renal and skeletal congenital malformations with peculiar phenotypes. It can occur in one per 100 000 livebirths. The histological lesions are caused by a reduction of the ratio of the number of bile ducts and the number of porta spaces. The global mortality rate of the disease is 20 % and the patients may need some hepatic transplantation for survival. Here is the case of a 6 years-old girl who was admitted to "Dr Eduardo Agramonte Pi a" hospital when she was 23-days-old because she had bronchopneumonia, but during her stay at hospital, she was detected a cholestatic syndrome with jaundice and acholia in addition to pulmonary stenosis and characteristic facies. A hepatic biopsy was performed. On the basis of some diagnostic criteria, the case was evaluated and diagnosed with this disease. Her progression was stable and she was followed-up until she was 6 years of age when she finally was admitted to "William Soler" hospital for liver transplantation.
%K s¨ªndrome de Alagille
%K colestasis
%K hipoplasia biliar
%K Alagille syndrome
%K cholestasis
%K biliary hypoplasia
%U http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312013000100013