Alagille Syndrome

Classification according to ICD-10
Q44.7	Other congenital malformations of the liver - Alagille syndrome
ICD-10 online (WHO version 2019)

The Alagille syndrome (ALGS; also Alagille Watson Syndrome or arteriohepatische dysplasia) is a very rare genetic disease that is inherited as an autosomal dominant. The exact frequency of the disease is not known. It is estimated at 1: 70,000 to 1: 100,000.

Cause and development of the disease

The inheritance is autosomal dominant. The penetrance is 100%, the expressivity or the phenotype , on the other hand, is very variable. Two sub-forms are described, a mutation of the locus of chromosome 20p12.2 in the JAG1 gene (ALGS1) or a mutation of the locus of chromosome 1p13-p11 in the NOTCH2 gene (ALGS2). The rate of new mutations is estimated to be over 50%.

Clinical appearance

The syndrome is characterized by

Bile congestion (cholestasis) with jaundice in the newborns in the foreground , this is caused by rarefaction of the bile ducts up to complete bile duct atresia in some cases
Typical abnormalities of the face (broad forehead, deep-set eyes, hypertelorism , narrow chin) and the skeleton ( butterfly vertebrae , short distal phalanges, clinodactyly , shortened ulna )
Diseases of the eye and the optic nerve ( embryotoxon , drusen on the optic nerve),
Heart disease ( pulmonary artery stenosis and other heart diseases ).

treatment

Treatment is symptomatic; liver transplantation is required in severe cases .

history

The first describer Daniel Alagille (1925-2005) was French and professor of pediatrics at the University of Paris- Sud.

Individual evidence

↑ Alagille syndrome. In: Online Mendelian Inheritance in Man . (English)
↑ DM Danks, PE Campbell, I. Jack, J. Rogers, AL Smith: Studies of the aetiology of neonatal hepatitis and biliary atresia . In: Arch. Dis. Child. tape 52 , no. 5 , May 1977, pp. 360-367 , PMID 559475 , PMC 1544552 (free full text).
↑ ^a ^b ^c ^d Burkhard Rodeck, Klaus-Peter Zimmer: Pediatric gastroenterology, hepatology and nutrition . Springer, ISBN 978-3-540-73968-5 , pp. 354-355.
↑ H. Samejima, C. Torii, R. Kosaki et al .: Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography . In: Genet. Test. tape 11 , no. 3 , 2007, p. 216-227 , doi : 10.1089 / gte.2006.0519 , PMID 17949281 .
↑ Berthold Koletzko: Pediatrics and Adolescent Medicine . Springer, 2003, ISBN 3-540-44365-7 , p. 483.
↑ Entry on Daniel Alagille in Who Named It?
↑ D. Alagille, M. Odièvre, M. Gautier, JP Dommergues: Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. In: Journal of Pediatrics. St. Louis 1975, 86, pp. 63-71.

Web links

[1] Alagille syndrome. In: Online Mendelian Inheritance in Man . (English)

[2] DM Danks, PE Campbell, I. Jack, J. Rogers, AL Smith: Studies of the aetiology of neonatal hepatitis and biliary atresia . In: Arch. Dis. Child. tape 52 , no. 5 , May 1977, pp. 360-367 , PMID 559475 , PMC 1544552 (free full text).

[Rodeck-3] Burkhard Rodeck, Klaus-Peter Zimmer: Pediatric gastroenterology, hepatology and nutrition . Springer, ISBN 978-3-540-73968-5 , pp. 354-355.

[4] H. Samejima, C. Torii, R. Kosaki et al .: Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography . In: Genet. Test. tape 11 , no. 3 , 2007, p. 216-227 , doi : 10.1089 / gte.2006.0519 , PMID 17949281 .

[5] Berthold Koletzko: Pediatrics and Adolescent Medicine . Springer, 2003, ISBN 3-540-44365-7 , p. 483.

[6] Entry on Daniel Alagille in Who Named It?

[7] D. Alagille, M. Odièvre, M. Gautier, JP Dommergues: Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. In: Journal of Pediatrics. St. Louis 1975, 86, pp. 63-71.