Alagille syndrome

Alagille syndrome
Other namesAlagille–Watson syndrome (ALGS), hepatic ductular hypoplasia
Alagille syndrome is inherited in an autosomal dominant manner
SpecialtyMedical genetics, Gastroenterology, Cardiology
Named afterDaniel Alagille

Alagille syndrome (ALGS) is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 30,000[1][2] to 1 in every 40,000 live births. It is named after the French pediatrician Daniel Alagille, who first described the condition in 1969.[3][4] Children with Alagille syndrome live to the age of 18 in about 90% of the cases.[5]

  1. ^ Mitchell E, Gilbert M, Loomes KM (November 2018). "Alagille Syndrome". Clinics in Liver Disease. 22 (4): 625–641. doi:10.1016/j.cld.2018.06.001. PMID 30266153.
  2. ^ Ayoub MD, Kamath BM (August 2022). "Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management". Clinics in Liver Disease. 26 (3): 355–370. doi:10.1016/j.cld.2022.03.002. PMID 35868679.
  3. ^ synd/729 at Who Named It?
  4. ^ Alagille D, Odièvre M, Gautier M, Dommergues JP (January 1975). "Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur". The Journal of Pediatrics. 86 (1): 63–71. doi:10.1016/S0022-3476(75)80706-2. PMID 803282.
  5. ^ Ayoub MD, Bakhsh AA, Vandriel SM, Keitel V, Kamath BM (October 2023). "Management of adults with Alagille syndrome". Hepatology International. 17 (5): 1098–1112. doi:10.1007/s12072-023-10578-x. PMC 10522532. PMID 37584849.

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