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2020, Number 4

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Rev Clin Esc Med 2020; 10 (4)

Síndrome de Alagille durante el embarazo: Reporte de un Caso

Córdoba VS, Leal MM
Full text How to cite this article

Language: Spanish
References: 10
Page: 67-71
PDF size: 138.30 Kb.


Key words:

Pregnancy, Alagille Syndrome, intrahepatic cholestasis.

ABSTRACT

Alagille Syndrome is an unusual autosomal dominant condition that affects multiple organs and systems. In the majority of the patients it is diagnosed at a young age and its main clinical feature is chronic cholestasis due to bile duct paucity. We present the case of a pregnant woman with this unusual disorder in whom serial fetal sonography revealed renal polycystic disease and fetal growth restriction. We describe the details of the case as well as maternal and fetal outcomes.


REFERENCES

  1. JFischetto, R. et al. Alagille Syndrome: A Novel Mutation in JAG1 Gene. Front. Pediatr. 7, 199 (2019).

  2. Chitayat, D., Kamath, B. & Saleh, M. Alagille syndrome: clinical perspectives. TACG Volume 9, 75–82 (2016).

  3. Albayram, F., Stone, K., Nagey, D., Schwarz, K. B. & Blakemore, K. Alagille Syndrome: Prenatal Diagnosis and Pregnancy Outcome. Fetal Diagn Ther 17, 182–184 (2002).

  4. Spinner, N. B., Gilbert, M. A., Loomes, K. M. & Krantz, D. Alagille Syndrome. 20.

  5. Kamath, B. M. et al. Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome. The Journal of Pediatrics 167, 390-396.e3 (2015).

  6. Kamath, B. M. Consequences of JAG1 mutations. Journal of Medical Genetics 40, 891–895 (2003).

  7. McElhinney, D. B. et al. Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals With a JAG1 Mutation and/or Alagille Syndrome. Circulation 106, 2567–2574 (2002).

  8. Mitchell, E., Gilbert, M. & Loomes, K. M. Alagille Syndrome. Clinics in Liver Disease 22, 625–641 (2018).

  9. Kamath, B. M. et al. Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study. Hepatol Commun 4, 387–398 (2020).

  10. Ferrarese, A., Senzolo, M. & Burra, P. Successful pregnancy in Alagille Syndrome. Digestive and Liver Disease 47, 86–87 (2015).




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Rev Clin Esc Med. 2020;10