Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome)

Scandinavian Journal of Gastroenterology
Monica DrivdalOystein Aagenaes

Abstract

To investigate the prognosis of liver disease in Aagenaes syndrome (lymphoedema cholestasis syndrome 1 (LCS1)), which is an autosomal recessive inherited syndrome consisting of neonatal cholestasis with intermittent cholestatic episodes in childhood into adulthood and development of lymphoedema. Forty Norwegian patients are known to have this condition, 25 of whom are alive. A clinical description of the liver disease is supplied with a case-control study. In this paper we review the course of the liver disease in the Norwegian cohort of patients and present results from a case-control study in the patients above 10 years of age. The case-control study was performed on 15 patients without clinical cholestasis (itching and sometimes jaundice) at the time of the study. An evaluation of 11 patients above 15 years of age without chronic biochemical cholestasis (increased alkaline phosphatase (ALP), gamma-glutamyl transferase (GGT) and/or serum bile acids) was also carried out. For each patient one randomly identified control person was included (15 in one study, 11 in the other). Cirrhosis with either transplantation or death in infancy or early childhood occurred in six patients; slowly developing cirrhosis occurred in three patie...Continue Reading

References

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Citations

Jun 16, 2009·Lymphatic Research and Biology·Stanley G Rockson
Feb 12, 2009·PloS One·Nilufer RahmiogluKourosh R Ahmadi
Feb 23, 2010·Clinical Nutrition : Official Journal of the European Society of Parenteral and Enteral Nutrition·Monica DrivdalØystein Aagenaes
Jun 4, 2008·Annals of the New York Academy of Sciences·Kavita Radhakrishnan, Stanley G Rockson
Jul 22, 2014·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·Mats BågesundKari Storhaug
Jul 3, 2015·Frontiers in Pediatrics·Thomas GötzeAndré Hoerning
Apr 2, 2013·Clinics in Liver Disease·Jane L HartleyDeirdre A Kelly
Jun 6, 2009·Clinical Pediatrics·Sumit DangDele Davies
Feb 14, 2019·Scandinavian Journal of Clinical and Laboratory Investigation·Monica DrivdalBengt Frode Kase

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