Update on progressive familial intrahepatic cholestasis.
ABSTRACT Three distinct forms of familial intrahepatic cholestasis are the result of mutations in the ATP8B1, ABCB11, and ABCB4 genes. The pathophysiologies of the latter 2 of these diseases are well characterized and are the result of abnormalities in canalicular excretion of bile acids and phospholipids, respectively. The molecular pathophysiology of the systemic disease associated with mutations in ATP8B1 remains unclear. In all of these diseases, wide variations in clinical phenotypes have been observed. The variability can be ascribed at least in part to predicted genotype:phenotype correlations. Disease- and genotype-specific prognoses and therapeutic approaches may exist, although much more information needs to be ascertained before clinicians can confidently make decisions based on genetic information.
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ABSTRACT: Ginecol Obstet Mex 2012;80(4):285-294 Artículo de revisión RESUMEN La etiopatogenia de la colestasis intrahepática del embarazo incluye factores genéticos y ambientales. El hecho central de su fisiopatología es el incremento de los ácidos biliares en la sangre materna y fetal. Las altas concentraciones de esos ácidos causan prurito materno y alta morbilidad y mortalidad perinatal. La confirmación diagnóstica radica en la detección de ácidos biliares elevados en la sangre materna. El mejor tratamiento es el ácido ursodeoxicólico y, aunque es claro que abate las concentraciones de los ácidos biliares y el prurito, no lo es que disminuya la morbilidad y mortalidad perinatal. Los estudios hoy disponibles para la valoración del bienestar fetal no son útiles para predecir el riesgo de muerte del feto, pues parece claro que ésta ocurre debido a la hipoxia fetal aguda súbita. La medida más eficaz para abatir la tasa de óbitos en esta afección es la interrupción del embarazo entre las semanas 36 a 37. El objetivo de este escrito es presentar una revisión actualizada de la bibliografía relacionada con esta enfermedad. Palabras clave: colestasis, intrahepática, embarazo, óbito. ABSTRACT The etiology of intrahepatic cholestasis of pregnancy includes genetic and environmental factors. Bile acids elevation in maternal and fetal blood is the main fact of its physiopathology, causing maternal itching and high perinatal morbidity and mortality. High levels of maternal blood bile acids are diagnostic. Best treatment is ursodeoxycolic acid and clearly it produces amelioration of bile acid levels and itching, but it is uncertain if it reduces perinatal morbidity and mortality. As far as fetal death is one of sudden onset, probably due to acute hypoxia, tests to evaluate and predict fetal condition are useless. Pregnancy interruption at 36-37 gestation weeks is the best strategy for lowering fetal death incidence. The purpose of this work is to achieve an actualized literature review on this disease.
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ABSTRACT: Introduction: In this issue, designations for hypoparathyroidism, Farber disease, dengue, Rett syndrome, adrenoleukodystrophy, necrotizing enterocolitis, Alagille syndrome, Dravet syndrome, familial intrahepatic cholestasis, familial chylomicronemia, myotonic dystrophy and epidermolysis bullosa are discussed. Areas covered: Orphan drugs designated between December 2013 and February 2014 within the European Union are covered. Expert opinion: Pioglitazone, which was recently designated for treatment of adrenoleukodystrophy, is an example of a drug in which the advantages of the already known pharmacodynamics and preclinical efficacy can be speculated to speed up its development as an orphan drug.06/2014; 2(6). DOI:10.1517/21678707.2014.911080
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ABSTRACT: Progressive familial intrahepatic cholestasis (PFIC) is a rare cause of hepatocellular cholestasis. The disease is typically refractory to medical management and often requires surgical intervention for long-term management. Accepted surgical therapies include biliary diversion, ileal bypass and ultimately orthotopic liver transplantation. Ileal exclusion is felt to be an attractive alternative as it avoids the cutaneous ostomy required with external biliary diversion. We describe a case of ileo-colic intussusception following ileal exclusion for PFIC presenting as abdominal pain and hyperbilirubinemia. After reduction of the intussusceptum, the terminal ileum was resected and the ileocolostomy was taken down with re-establishment of bowel continuity. The patient had immediate correction of their hyperbilirubinemia and pruritus post-operatively. This case report describes a unique complication of ileal diversion that has not been previously reported.07/2014; DOI:10.1016/j.epsc.2014.06.013