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Resumen
Se presenta el caso de una mujer de 16 años de edad, con síndrome de Alagille, que presentó una hemorragia digestiva por rotura de varices esofágicas secundarias a una hipertensión portal presinusoidal por trombosis portal, sin evidencia de fibrosis hepática, fenómeno no descrito con anterioridad en este síndrome.
We present the case of a 16-year old woman with Alagille's syndrome, who had upper gastrointestinal bleeding due to rupture of esophageal varices secondary to presinusoidal portal hypertension without liver fibrosis. Portal thrombosis is a manifestation previously unreported in association to this syndrome.
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Bibliografía
[1.]
J. Ludwig, R.H. Wiesner, N.F. LaRusso.
Idiopathic adulthood ductopenia: a cause of chronic cholestatic liver disease and biliary cirrhosis.
J Hepatol, 7 (1988), pp. 193-199
[2.]
D. Alagille, M. Odièvre, M. Gautier, J.P. Dommergues.
Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur.
J Pediatr, 86 (1975), pp. 63-71
[3.]
D. Alagille, A. Estrada, M. Hadchouel, M. Gautier, M. Odievre, J.P. Dommergues.
Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.
J Pediatr, 110 (1987), pp. 195-200
[4.]
D. Alagille.
Alagille syndrome today.
[Review] - Medecine Clinique et Experimentale, 19 (1996), pp. 325-330
[5.]
G.H. Watson, V. Miller.
Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease.
Arch Dis Chilhood, 49 (1973), pp. 459-467
[6.]
A. Deprettere, B. Portmann, A.P. Mowat.
Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout childhood.
J Pediatr Gastroenterol Nutr, 6 (1987), pp. 865-871
[7.]
I.D. Krantz, D.A. Piccoli, N.B. Spinner.
Alagille syndrome.
J Med Genet, 34 (1997), pp. 152-157
[8.]
M. Bruguera, J. Llach, J. Rodés.
Nonsyndromic paucity of intrahepatic bile ducts in infancy and idiopathic ductopenia in adulthood: the same syndrome?.
Hepatology, 15 (1992), pp. 830-834
[9.]
C. Crosnier, T. Attie-Bitach, F. Encha-Razavi, S. Audollent, F. Soudy, M. Hadchouel, et al.
Jagged 1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome.
Hepatology, 32 (2000), pp. 574-581
[10.]
L. Li, I.D. Krantz, Y. Deng, A. Genin, A.B. Banja, C.C. Collins, et al.
Alagille syndrome is caused by mutations in human Jagged 1, which encodes a ligand of Notch 1.
Nat Genet, 6 (1997), pp. 243-251
[11.]
T. Oda, A.G. Elkahloun, B.L. Pike, K. Okajima, I.D. Krantz, A. Genin, et al.
Mutations in the human Jagged 1 gene are reponsible for Alagille síndrome.
Nat Genet, 16 (1997), pp. 235-243
[12.]
D. Alagille.
Management of paucity of interlobular bile ducts.
J Hepatol, 1 (1985), pp. 561-565
[13.]
K. Emerick, E. Rand, E. Goldmuntz, I. Krantz, N. Spinner, D. Piccoli.
Features of Alagille syndrome in 92 patients: frequency and relation to prognosis.
Hepatology, 29 (1999), pp. 822-829
[14.]
M. Hadchouel.
Paucity of interlobular bile ducts.
Semin Diag Pathol, 9 (1992), pp. 24-30
[15.]
M. Hadchouel, R. Hugon, M. Gautier.
Reduced ratio of portal tracts to paucity of intrahepatic bile ducts.
Arch Pathol Lab Med, 101 (1978), pp. 402
[16.]
F.R. Rosendaal.
Venous thrombosis: a multicausal disease.
Lancet, 353 (1999), pp. 1167-1173
[17.]
D.C. Valla, B. Condat.
Portal vein thrombosis in adults: pathophysiology, pathogenesis and management.
J Hepatol, 32 (2000), pp. 865-871
[18.]
H.L.A. Jansen, A. Wijnhoud, A. Haagsma, Van SHM Uum, Van CMJ Nieuwkerk, R.P. Adang, et al.
Extrahepatic portal vein trombosis: aetiology and determinants of survival.
Gut, 49 (2001), pp. 720-724
[19.]
S.E. Grauer, S.I. Schwartz.
Extrahepatic portal hypertension. A retrospective analisis of 127 cases and associated clinical implications.
Arch Surg, 189 (1979), pp. 566-572
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