Editorial
Free Access
Bile acids for babies? Diagnosis and treatment of a new category of metabolic liver disease
Frederick J. Suchy M.D.,
Corresponding Author
Frederick J. Suchy M.D.
Department of Pediatrics, Pediatric Gastroenterology/Hepatology Section, Yale University School of Medicine, New Haven, Connecticut 06520-8064
Department of Pediatrics, Pediatric Gastroenterology/Hepatology, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06520-8064===Search for more papers by this authorFrederick J. Suchy M.D.,
Corresponding Author
Frederick J. Suchy M.D.
Department of Pediatrics, Pediatric Gastroenterology/Hepatology Section, Yale University School of Medicine, New Haven, Connecticut 06520-8064
Department of Pediatrics, Pediatric Gastroenterology/Hepatology, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06520-8064===Search for more papers by this author
References
- 1 Daugherty CC, Setchell KDR, Heubi JE. Resolution of hepatic biopsy alterations in three siblings with bile acid treatment of an inborn error of bile acid metabolism (Δ4-3-oxosteroid 5β-reductase deficiency). HEPATOLOGY 1993; 18: 1096–1101.
- 2 Suchy FJ, Shneider BL. Neonatal jaundice and cholestasis. In: N Kaplowitz, ed. Liver and biliary diseases. Baltimore: Williams & Wilkins, 1992: 442–455.
- 3 Balistreri WF. Neonatal cholestatis: medical progress. J Pediatr 1985; 106: 171–184.
- 4 Hanson R, Isenberg N, Williams G, Hachey D, Szczepanik P, Klein P, Sharp H. The metabolism of 3α,7α, 12α-trihydroxy-5β-cholestan-26-oic acid in two siblings with cholestatis due to intrahepatic bile duct anomalies. J Clin Invest 1975; 56: 577–587.
- 5 Russell DW, Setchell KDR. Bile acid biosynthesis. Biochemistry 1992; 20: 4737–4749.
- 6 Tazawa Y, Konno T. Urinary monohydroxy bile acids in young infants with obstructive jaundice. Acta Paediatr Scand 1982; 71: 91–95.
- 7 Finni K, Simila S, Koivisto M, Kouvalainen K. Deoxycholic and sulpholithocholic acid concentrations in serum during infancy and childhood. Acta Paediatr Scand 1983; 72: 215–218.
- 8 Columbro C, Zuliani G, Ronchi M, Breidenstein J, Setchell KDR. Biliary bile acid composition of the human fetus in early gestation. Pediatr Res 1987; 211: 97–200.
- 9 Setchell KDR, Russell DW. Ontogenesis of bile acid synthesis and metabolism. In: FJ Suchy, ed. Liver disease in children. St. Louis: Mosby-Year Book, in press.
- 10 Setchell KDR, Street JM. Inborn errors of bile acid synthesis. Semin Liver Dis 1987; 7: 85–99.
- 11 Kimura A, Mahara R, Tonha M, Ushijima K, Yuge K, Ono E, Yamashita F. Unusual 1β-hydroxylated bile acids in children with a paucity in interlobular bile ducts. Clin Chim Acta 1989; 185: 215–218.
- 12 Strandvick B, Wikstrom SA. Tetrahydroxylated bile acids in healthy human newborns. Eur J Clin Invest 1982; 12: 301–305.
- 13 Parmentier G, Janssen A, Eggermont E, Eyssen H. C27 bile acids in infants with coprostanic acidemia and occurrence of a 3α, 7α, 12α-trihydroxy-5β-C29 dicarboxylic bile acid as a major component in their serum. Eur J Biochem 1979; 102: 173–183.
- 14 Tazawa Y, Yamada M, Nakagawa M, Konno T, Tada K. Bile acid profiles in siblings with progressive intrahepatic cholestatis: absence of biliary chenodeoxycholate. J Pediatr Gastroenterol Nutr 1985; 4: 32–37.
- 15 Wanders RJA, Castells M, Mannaerts GP, van Roemerund CWT, Schutgens RBH, Kozich V, Zerman J, et al. Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patients. Clin Chim Acta 1991; 202: 123–132.
- 16
Lawson AM,
Setchell KDR.
Mass spectrometry of bile acids. In:
KDR Setchell,
D Kritchevsky,
P Nair, eds.
The bile acids: chemistry, physiology, and metabolism.
Vol 4.
New York:
Plenum Press.
1988:
167–267.
10.1007/978-1-4613-0901-7_5 Google Scholar
- 17 Egestad B, Petterson P, Skrede S, Sjovall J. Fast atom bombardment mass spectrometry in the diagnosis of cerebrotendinous xanthomatosis. Scand J Clin Lab Invest 1985; 45: 443–446.
- 18 Clayton PT. Inborn errors of bile acid metabolism. J Inher Metab Dis 1991; 14: 478–496.
- 19 Clayton PT, Leonard JV, Lawson AM, Setchell KDR, Andersson S, Egestad B, Sjovall J. Familial giant cell hepatitis associated with synthesis of 3β,7α-dihydroxy- and 3β,7α,12α-trihydroxy-5-cholenoic acids. J Clin Invest 1987; 79: 1031–1038.
- 20 Setchell KDR, O'Connell WC. Inborn errors of bile acid metabolism. In: FJ Suchy, ed. Liver disease in children. St. Louis: Mosby-Year Book, in press.
- 21 Setchell KDR. Disorders of bile acid synthesis. In: WA Walker, PR Durie, JR Hamilton, JA Walker-Smith, JA Watkins, eds. Pediatric gastrointestinal disease: pathophysiology, diagnosis, management. Vol 2. Toronto: B.C. Decker Inc., 1990: 992–1013.
- 22 Witzleben CL, Piccoli DA, Setchell K. A new category of causes of intrahepatic cholestatis. J Pediatr Pathol 1992; 12: 269–274.
- 23 Setchell KDR, Suchy FJ, Welsh MB, Zimmer-Nechemias L, Heubi J, Balisteri WF. Δ4-3-oxosteroid 5β-reductase deficiency described in identical twins with neonatal hepatitis: a new inborn error in bile acid synthesis. J Clin Invest 1988; 82: 2148–2157.
- 24 Balistreri WF. Fetal and neonatal bile acid synthesis and metabolism: clinical implications. J Inher Metab Dis 1991; 14: 459–477.
- 25 Shneider BL, Setchell KDR, Whitington PF, Neiison KA, Suchy FJ. Δ4-3-Oxosteroid 5β-reductase deficiency causing neonatal liver failure and hemochromatosis. J Pediatr, in press.
- 26 Poupon RE, Balkau B, Eschwege E, Poupon R. A multicentered, controlled trial of ursodiol for the treatment of primary biliary cirrhosis. N Engl J Med 1991; 324: 1548–1554.
- 27 O'Brien C, Senior JR, Aroa-Mirchandani R, Batta AK, Salen G. Ursodeoxycholic acid for the treatment of primary sclerosing cholangitis: a 30-month pilot study. HEPATOLOGY 1991; 14: 838–847.
- 28 Setchell KDR, Balistreri WF, Piccoli DA, Clerici C. Oral bile acid therapy in the treatment of inborn errors in bile acid synthesis associated with liver disease. In: G Paumgartner, A Stiehl, W Gerok, eds. Bile acids as therapeutic agents: from basic science to clinical practice. Dordrecht, The Netherlands: Kluwer Academic Publishers, 1990: 367–373.
- 29 Setchell KDR, Bragetti P, Zimmer-Nechemias L, Daugherty C, Pelli MA, Vaccaro R, Gentili G, et al. Oral bile acid treatment and the patient with Zellweger syndrome. HEPATOLOGY 1992; 15: 198–207.
- 30 Horslen SP, Lawson AM, Malone M, Clayton PT. 3β-Hydroxy-Δ5-C27-steroid dehydrogenase deficiency: effect of chenodeoxycholic acid treatment. J Inher Metab Dis 1992; 15: 38–46.
- 31 Ichimiya H, Egestad B, Nazer H, Baginski ES, Clayton PT, Sjovall J. Bile acids and bile alcohols in a child with hepatic 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment. J Lipid Res 1991; 32: 829–841.
- 32 Phillips MJ, Poucell S, Patterson J, Valencia P. The liver, an atlas and text of ultrastructural pathology. New York: Raven Press, 1987: 101–158.
- 33 Jackson BT, Smallwood RA, Piasecki GJ, Brown AS, Rauschecker HFJ, Lester R. Fetal bile salt metabolism. I. Metabolism of sodium cholate C14 in the fetal dog. J Clin Invest 1971; 50: 1286–1294.
- 34 Smallwood RA, Lester R, Piasecki GJ, Klein PD, Greco R, Jackson BT. Fetal bile salt metabolism. II. Hepatic excretion of endogenous bile salt and of taurocholate load. J Clin Invest 1972; 51: 1388–1397.
- 35 Lester R, Smallwood RA, Little JM, Brown AS, Piasecki GJ, Jackson BT. Fetal bile salt metabolism. III. The intestinal absorption of bile salt. J Clin Invest 1977; 59: 1009–1016.