OBJECTIVES: Progressive familial intrahepatic cholestasis (PFIC) usually presents with pruritus, jaundice, hepatomegaly, and growth failure. A group of PFIC is recognized by marked elevation of total serum bile acids, decreased serum apolipoprotein A-1, and high-density lipoprotein, but normal gamma-glutamyltranspeptidase and cholesterol. Although medical therapy generally fails, partial external biliary diversion (DIV) has been used with promising results for cholestasis. However, little has been reported of its effect on linear growth, synthetic liver function, and lipid metabolism. METHODS: DIV was performed on six noncirrhotic children with PFIC, all suffering from severe pruritus and cholestasis, refractory to medical treatment. Stature was below -1 (median, -2.3) standard deviation score (SDS) for height in all cases. All patients had markedly enhanced bile acids (307 +/- 72 microl/L), markedly decreased high-density lipoprotein (20 +/- 7 mg/dl), and apolipoprotein A-1 (58 +/- 37 mg/dl), but normal gamma-glutamyltranspeptidase and cholesterol. In addition, cholinesterase activity, monoethylglycinexylidide test, and Fischer's ratio indicated a significantly reduced synthetic liver function in all children but the youngest. RESULTS: After DIV, all patients were consistently relieved of pruritus, and experienced normalization of all liver function tests, including cholinesterase activity, monoethylglycinexylidide test, and Fischer's ratio, as well as the serum lipid profile within 1 yr. In addition, a marked catch-up growth (median, +/- 1.3 SDS) was evident after 1 yr in all cases. CONCLUSIONS: This report shows an excellent result of DIV in noncirrhotic PFIC patients and compares favorably with other reports. All patients experienced complete remission, including normalization of synthetic liver function and lipid metabolism. For the first time we have shown that DIV can also be associated with an accelerated growth in these patients.
OBJECTIVES: Progressive familial intrahepatic cholestasis (PFIC) usually presents with pruritus, jaundice, hepatomegaly, and growth failure. A group of PFIC is recognized by marked elevation of total serum bile acids, decreased serum apolipoprotein A-1, and high-density lipoprotein, but normal gamma-glutamyltranspeptidase and cholesterol. Although medical therapy generally fails, partial external biliary diversion (DIV) has been used with promising results for cholestasis. However, little has been reported of its effect on linear growth, synthetic liver function, and lipid metabolism. METHODS: DIV was performed on six noncirrhotic children with PFIC, all suffering from severe pruritus and cholestasis, refractory to medical treatment. Stature was below -1 (median, -2.3) standard deviation score (SDS) for height in all cases. All patients had markedly enhanced bile acids (307 +/- 72 microl/L), markedly decreased high-density lipoprotein (20 +/- 7 mg/dl), and apolipoprotein A-1 (58 +/- 37 mg/dl), but normal gamma-glutamyltranspeptidase and cholesterol. In addition, cholinesterase activity, monoethylglycinexylidide test, and Fischer's ratio indicated a significantly reduced synthetic liver function in all children but the youngest. RESULTS: After DIV, all patients were consistently relieved of pruritus, and experienced normalization of all liver function tests, including cholinesterase activity, monoethylglycinexylidide test, and Fischer's ratio, as well as the serum lipid profile within 1 yr. In addition, a marked catch-up growth (median, +/- 1.3 SDS) was evident after 1 yr in all cases. CONCLUSIONS: This report shows an excellent result of DIV in noncirrhotic PFICpatients and compares favorably with other reports. All patients experienced complete remission, including normalization of synthetic liver function and lipid metabolism. For the first time we have shown that DIV can also be associated with an accelerated growth in these patients.
Authors: P Ramachandran; N P Shanmugam; S Al Sinani; V Shanmugam; S Srinivas; M Sathiyasekaran; V Tamilvanan; M Rela Journal: Pediatr Surg Int Date: 2014-07-27 Impact factor: 1.827
Authors: Hilary S Jericho; Elizabeth Kaurs; Renze Boverhof; Alex Knisely; Benjamin L Shneider; Henkjan J Verkade; Peter F Whitington Journal: J Pediatr Gastroenterol Nutr Date: 2015-03 Impact factor: 2.839
Authors: Kasper S Wang; Greg Tiao; Lee M Bass; Paula M Hertel; Douglas Mogul; Nanda Kerkar; Matthew Clifton; Colleen Azen; Laura Bull; Philip Rosenthal; Dylan Stewart; Riccardo Superina; Ronen Arnon; Molly Bozic; Mary L Brandt; Patrick A Dillon; Annie Fecteau; Kishore Iyer; Binita Kamath; Saul Karpen; Frederick Karrer; Kathleen M Loomes; Cara Mack; Peter Mattei; Alexander Miethke; Kyle Soltys; Yumirle P Turmelle; Karen West; Jessica Zagory; Cat Goodhue; Benjamin L Shneider Journal: Hepatology Date: 2017-03-22 Impact factor: 17.425