Aagenaes Syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
K83.1 Closure of the bile duct
Q82.0 Hereditary lymphedema
ICD-10 online (WHO version 2019)

The Aagenaes syndrome or cholestasis-lymphedema syndrome (CHLS) is characterized by a congenital underdevelopment of the lymphatic vessels, to the lymphatic edema in the legs and recurrent cholestasis leads in childhood. Later cirrhosis of the liver develops .

Aagenaes syndrome is obviously inherited as an autosomal - recessive trait . The genetic error is located on chromosome 15q .

The prognosis for this very rare disease is relatively favorable. About 50 percent of patients have a normal life expectancy.

swell

  1. LN Bull, E. Roche, EJ Song, J. Pedersen, AS Knisely, CB van Der Hagen, K. Eiklid, O. Aagenaes, NB Freimer: Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6 -cM interval on chromosome 15q. In: Am J Hum Genet. 67/2000, pp. 994-999. PMID 10968776
  2. ^ A. Heiberg: Aagenaes syndrome: lymphedema and intrahepatic cholestasis. In: Tidsskr Nor Laegeforen. 2001 May 30; 121 (14), pp. 1718-1719. PMID 11446017
  3. M. Drivdal et al .: Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1 / Aagenaes syndrome). In: Scand J Gastroenterol. 41/2006, pp. 465-471.

literature

  • DA Kelly: Diseases of the Liver and Biliary System in Children. Blackwell Publishing, 2004, ISBN 1-4051-0660-3 , p. 56.
  • M. Frühwirth et al: Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. In: The Journal of Pediatrics . 142/2003, pp. 441-447. PMID 12712065
  • AA Morris et al: Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome). In: J Med Genet. 34/1997, pp. 852-853. PMID 9350821

Web links