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Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival – a case report

Authors
  • Echeverri-Mejía, Camila1
  • Ríos-Orozco, Sergio U.1
  • Lozada-Martínez, Ivan D.2
  • Narvaez-Rojas, Alexis R.3, 4
  • 1 Department of Medicine, Universidad de Manizales, Manizales
  • 2 Medical and Surgical Research Center, Future Surgeons Chapter, Colombian Surgery Association, Bogotá, Colombia
  • 3 International Coalition on Surgical Research, Universidad Nacional Autónoma de Nicaragua, Managua, Nicaragua
  • 4 Breast Surgical Oncology Division, DeWitt Daughtry Family Department of Surgery, Jackson Health System/University of Miami Miller School of Medicine, Miami, Florida
Type
Published Article
Journal
Annals of Medicine and Surgery
Publisher
Elsevier BV
Publication Date
Apr 10, 2023
Volume
85
Issue
4
Pages
1231–1234
Identifiers
DOI: 10.1097/MS9.0000000000000473
PMID: 37113962
PMCID: PMC10129178
Source
PubMed Central
Keywords
Disciplines
  • Case Reports
License
Unknown

Abstract

Alagille syndrome has been described as a multisystemic clinical spectrum caused by an autosomal dominant genetic disorder. Although it is estimated that there is 1 case per 100 000 live births, the prognosis for survival and quality of life for these patients is varied but tends to be negative. In Colombia, this condition is considered an orphan disease with difficult management due to the lack of specialized centers that have all the medical specialties and subspecialties. Some reports state that no more than 30 cases have been published in this country. Materials and methods: The authors report a case of a male baby who, at 8 days old, he was taken to the general practitioner’s outpatient clinic for persistent jaundice. At 3 months of age, he was reviewed by the pediatric gastroenterology department, which requested liver and biliary tract scintigraphy, showing atresia of the biliary tract, hepatomegaly, and the absence of a gallbladder. Results: Liver transplantation is the definitive solution. However, in low- and middle-income countries, where there are no well-established organ transplantation programs, the prognosis for these patients is presumed to be worse. Conclusion: Alagille syndrome is a rare disease that requires an accurate and early diagnosis and timely multidisciplinary management to reduce the impact of multisystemic complications. It is necessary to advance in transplant programs in low- and middle-income countries, to provide a solution to cases where there are no other therapeutic alternatives, and to contribute to the quality of life of the affected patient.

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