Byler-like familial cholestasis in an extended kindred

Archives of Disease in Childhood

Volumn 75, Issue 3, 1996, Pages 223-227

  Bourke, B ^a,d   Goggin, N ^a   Walsh, D ^a   Kennedy, S ^b   Setchell, K D R ^c   Drumm, B ^a  

^a UNIVERSITY COLLEGE DUBLIN   (Ireland)

^b ST VINCENT S UNIVERSITY HOSPITAL   (Ireland)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Byler disease; Familial cholestasis

Indexed keywords

GAMMA GLUTAMYLTRANSFERASE;

ARTICLE; CASE REPORT; CHOLESTASIS; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; DIARRHEA; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; HUMAN; INFANT; JAUNDICE; MEDICAL RECORD; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SIBLING;

EID: 0029832666     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.75.3.223     Document Type: Article

References (23)

1. Clayton RJ, Iber FL, Ruebner BH, McKusick VA. Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 1969; 117: 112-24.
2. Williams CN, Kaye R, Baker L, Hurwitz R, Senior JR. Progressive familial cholestatic cirrhosis and bile acid metabolism. J Pediatr 1972; 81: 493-500.
3. Ballow M, Margolis CZ, Schachtel B, Hsia YE. Progressive familial intrahepatic cholestasis. Pediatrics 1973; 51: 998-1007.
4. Odievre M, Gautier M, Hadchouel M, Alagille D. Severe familial intrahepatic cholestasis. Arch Dis Child 1973; 48: 806-12.
5. De Vos R, De Wolf-Peeters C, Desmet V, Eggermont E, Van Acker K. Progressive intrahepatic cholestasis (Byler's disease): case report. Gut 1975; 16: 943-50.
6. Jones EA, Rabin L, Buckley CH, Webster GK, Owens D. Progressive intrahepatic cholestasis of infancy and childhood. Gastroenterology 1976; 71: 675-82.
7. Nakagawa M, Tazawa Y, Kobayashi Y, et al. Familial intrahepatic cholestasis associated with progressive neuromuscular disease and vitamin E deficiency. J Pediatr Gastroenterol Nutr 1984; 3: 385-9.
8. Winklhofer-Roob BM, Shmerling DH, Solèr R, Briner J. Progressive idiopathic cholestasis presenting with profuse watery diarrhoea and recurrent infections (Byler's disease). Acta Paediatr 1992; 81: 637-40.
9. Whitington PF, Freese DK, Alonso EM, Fishbein MH, Emond JC. Progressive familial intrahepatic cholestasis (Byler's disease). In: Lentze M, Reichen J, eds. Paediatric cholestasis - novel approaches to treatment. Dordrecht: Kluwer Academic Publishers; 1992: 165-80.
10. Gray OP, Saunders RA. Familial intrahepatic cholestatic jaundice in infancy. Arch Dis Child 1966; 41: 320-8.
11. Dahms BB. Hepatoma in familial cholestatic cirrhosis of childhood. Arch Pathol Lab Med 1979; 103: 30-3.
12. Riely CA. Familial intrahepatic cholestasis: an overview. In: Walker WA, Durie PR, Hamilton JR, Walker-Smith JA, Watkins JB, eds. Pediatric gastrointestinal disease. Vol 2. Philadelphia: BC Decker, 1991:1025-32.
13. Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Sharp HL. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994; 18: 134-41.
14. Setchell KDR, Worthington J. A rapid method for the quantitative extraction of bile acids and their conjugates from serum using commercially available reverse phase octadecylsilane bonded silica cartridges. Clin Chim Acta 1982; 125: 135-44.
15. Sjovall J, Lawson AM, Setchell KDR. Mass spectrometry of bile acids. In: Law JH, Rilling HC, eds. Methods and enzymology. Vol 1. London: Academic Press, 1985:63-113.
16. Setchell KDR, Matsui A. Serum bile acid analysis: the application of liquid-gel chromatographic techniques and capillary column gas chromatography and mass spectrometry. Clin Chim Acta 1983; 127: 1-17.
17. Linarelli LG, Williams CN, Philips MJ. Byler's disease: fatal intrahepatic cholestasis. J Pediatr 1972; 81: 484-92.
18. Maggiore G, Bernard O, Riely C, Hadchouel M, Lemonnier A, Alagille D. Normal serum γ-glutamyl-transpeptidase activity identifies groups of infants with idiopathic cholestasis with poor prognosis. J Pediatr 1987; 113: 251-2.
19. Hillemeier AC, Hen J, Riely CA, Dolan TF, Gryboski JD. Meconium peritonitis and increasing sweat chloride determinations in a case of familial progressive intrahepatic cholestasis. Pediatrics 1982; 69: 325-7.
20. Lloyd-Still JD. Familial cholestatic syndrome with elevated sweat electrolytes. In: Sturgess JM, ed. Proceedings of the 8th International Congress on Cystic Fibrosis. Toronto: Imperial Press, 1980:25a.
21. Maggiore G, De Giacomo C, Scotta MS, Siena S, Maccario R, Vitiello A. Cell-mediated immunity in children with chronic cholestasis. J Pediatr Gastroenterol Nutr 1982; 1: 385-8.
22. Alonso EM, Snover DC, Montag A, Freese DK, Whitington PF. Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994; 18: 128-33.
23. Jacquemin E, Dumont M, Bernard O, Erlinger S, Hadchouel M. Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis. Eur J Pediatr 1994; 153: 424-8.