Progressive familial intrahepatic cholestasis

Journal of Clinical and Experimental Hepatology

Volumn 4, Issue 1, 2014, Pages 25-36

  Srivastava, Anshu ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Bile secretion; Children; Cholestasis; Familial; Pruritus

Indexed keywords

ALPHA TOCOPHEROL; BILE ACID; BILE SALT; BILE SALT EXPORT PUMP; CALCIUM; COLESTYRAMINE; MULTIDRUG RESISTANCE PROTEIN 3; PHOSPHOLIPID; RETINOL; RIFAMPICIN; URSODEOXYCHOLIC ACID; VITAMIN D; VITAMIN K GROUP;

ABCB11 GENE; ABCB4 GENE; ATP8B1 GENE; AUTOSOMAL RECESSIVE INHERITANCE; BILE SECRETION; BILIARY DIVERSION; BILIARY TRACT SURGERY; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; ELECTRON MICROSCOPY; END STAGE LIVER DISEASE; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE; GENETIC SCREENING; HIGH RISK PATIENT; HUMAN; IMMUNOHISTOCHEMISTRY; INCIDENCE; INTRAHEPATIC CHOLESTASIS; LIPID ANALYSIS; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER FIBROSIS; LIVER FUNCTION TEST; LIVER TRANSPLANTATION; LIVER TUMOR; MAGNETIC RESONANCE CHOLANGIOPANCREATOGRAPHY; NUTRITIONAL SUPPORT; OBSTRUCTIVE JAUNDICE; PATIENT MONITORING; PRIORITY JOURNAL; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS; PRURITUS; REVIEW;

EID: 84899919643     PISSN: 09736883     EISSN: 22133453     Source Type: Journal    
DOI: 10.1016/j.jceh.2013.10.005     Document Type: Review

References (110)

1. Davit-Spraul A., Gonzales E., Baussan C., Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 2009, 4:1.
2. Jacquemin E. Progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol 2012, 36(suppl 1):S26-S35.
3. Hori T., Nguyen J.H., Uemoto S. Progressive familial intrahepatic cholestasis. Hepatobiliary Pancreat Dis Int 2010, 9:570-578.
4. Clayton R.J., Iber F.I., Ruebner B.H., et al. Byler disease: fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 1969, 117:112-124.
5. Bull L.N., Carlton V.E., Stricker N.L., et al. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC 1] and Byler syndrome): evidence for heterogenicity. Hepatology 1997, 26:155-164.
6. Bourke B., Goggin N., Walsh D., Kennedy S., Setchell K.D., Drumm B. Byler like familial cholestasis in an extended kindred. Arch Dis Child 1996, 75:223-227.
7. Arnell H., Nemeth A., Anneren G., Dahl N. Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogenicity by exclusion of linkage to chromosome 18q21-q22. Hum Genet 1997, 100:378-381.
8. Naveh Y., Bassan L., Rosenthal E., et al. Progressive familial intrahepatic cholestasis among the Arab population in Israel. J Pediatr Gastroenterol Nutr 1997, 24:548-554.
9. Kagalwalla A.F., Al Amir A.R., Khalipha A., Sylven M., Al Ajaji S., Kagalwalla Y.A. Progressive familial intrahepatic cholestasis (Byler's disease) in Arab children. Ann Trop Paediatr 1995, 15:321-327.
10. Stapelbroek J.M., van Erpercum K.J., Klomp L.W., Houwen R.H. Liver disease associated with canalicular transport defects: current and future therapies. J Hepatol 2010, 52:258-271.
11. Bull L.N., van Ejik M.J., Pawlikowska L., et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998, 18:219-224.
12. Van Mil S.W., Klomp L.W., Bull L.N., Houwen R.H. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis 2001, 21:535-544.
13. Paulusma C.C., Oude Elferink R.P.J., Jansen P.L.M. Progressive familial intrahepatic cholestasis type 1. Semin Liver Dis 2010, 30:117-124.
14. Devaux P.F., Lopez-Montero I., Bryde S. Proteins involved in lipid translocation in eukaryotic cells. Chem Phys Lipids 2006, 141:119-132.
15. Paulusma C.C., Oude Elferink R.P. Diseases of intra-membranous lipid transport. FEBS Lett 2006, 580:5500-5509.
16. Oude Elferink R.P.J., Paulusma C.C., Groen A.K. Hepatocanalicular transport defects: pathophysiologic mechanisms of rare diseases. Gastroenterology 2006, 130:908-925.
17. Paulusma M.L., Groen A., Kunne C., et al. Atp8b1 deficiency in mice induces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile acid transport. Hepatology 2006, 44:195-204.
18. Verhulst P.M., van der Velden L.M., Oorschot V., et al. A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells. Hepatology 2010, 51:2049-2060.
19. Groen A., Romero M.R., Kunne C., et al. Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity. Gastroenterology 2011, 141:1927-1937.
20. Alvarez L., Jara P., Sanchez-Sabate E., et al. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet 2004, 13:2451-2460.
21. Chen F., Ananthanarayanan M., Emre S., et al. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology 2004, 126:756-764.
22. Chen F., Ellis E., Strom S.C., Shneider B.L. ATPase class 1 type 8B member 1 and protein kinase C zeta induce the expression of the canalicular bile salt transport pump in human hepatocyte. Pediatr Res 2010, 67:183-187.
23. Frankenberg T., Miloh T., Chen F.Y., et al. The membrane protein ATPase class 1 type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor. Hepatology 2008, 48:1896-1905.
24. Koh S., Takada T., Kukku I., Suzuki H. FIC1-mediated stimulation of FXR activity is decreased with PFIC1 mutations in HepG2 cells. J Gastroenterol 2009, 44:592-600.
25. Martinez-Fernandez P., Hierro L., Jara P., Alvarez L. Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells; effect of FXR agonist GW4064. Am J Physiol Gastrointest Liver Physiol 2009, 296:G1119-G1129.
26. Cai S.Y., Gautam S., Nguyen T., Soroka C.J., Rahner C., Boyer J.L. ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. Gastroenterology 2009, 136:1060-1069.
27. Groen A., Kunne C., Jongsma G., et al. Abcg5/8 independent biliary cholesterol excretion in Atp8b1 deficient mice. Gastroenterology 2008, 134:2091-2100.
28. Klomp L.W., Vargas J.C., van Mil S.W., et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 2004, 40:27-38.
29. Paulusma C.C., Folmer D.E., Ho-Mok K.S., et al. ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. Hepatology 2008, 47:268-278.
30. Strautnieks S.S., Kagalwalla A.F., Tanner M.S., et al. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. Am J Hum Genet 1997, 61:630-633.
31. Kubitz R., Dröge C., Stindt J., Weissenberger K., Häussinger D. The bile salt export pump (BSEP) in health and disease. Clin Res Hepatol Gastroenterol 2012, 36:536-553.
32. Strautnieks S.S., Bull L.N., Knisely A.S., et al. A gene encoding a liver specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998, 20:233-238.
33. Jansen P.L., Strautnieks S.S., Jacquemin E., et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999, 117:1370-1379.
34. Van Mil S.W., van der Woerd W.L., van der Brugge G., et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004, 127:379-384.
35. Lam C.W., Cheung K.M., Tsui M.S., Yan M.S., Lee C.Y., Tong S.F. A patient with novel ABCB11 gene mutation with phenotypic transition between BRIC2 and PFIC2. J Hepatol 2006, 44:240-242.
36. Keitel V., Vogt C., Haussinger D., Kubitz R. Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. Gastroenterology 2006, 131:624-629.
37. Strautnieks S.S., Byrne J.A., Pawlikowska L.N., et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 2008, 134:1203-1214.
38. Keitel V., Burdelski M., Warskulat U., et al. Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis. Hepatology 2005, 41:1160-1172.
39. Wang L., Soroka C.J., Boyer J.L. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J Clin Invest 2002, 110:965-972.
40. Evason K., Bove K.E., Finegold M.J., et al. Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies. Am J Surg Pathol 2011, 35:687-696.
41. Pauli-Magnus C., Lang T., Meier Y., et al. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 2 (ABCB4, MDR 3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics 2004, 14:91-102.
42. Lang C., Meier Y., Stieger B., et al. Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenet Genomics 2007, 17:47-60.
43. Lam P., Soroka C.J., Boyer J.L. The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic disease. Semin Liver Dis 2010, 30:125-133.
44. Jansen P.L.M., Muller M. Genetic cholestasis: lessons from the molecular physiology of bile formation. Can J Gastroenterol 2000, 14:233-238.
45. De vree J.M., Jacquemin E., Sturm E., et al. Mutations in MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci U S A 1998, 95:282-287.
46. Davit Spraul A., Gonzales E., Baussan C., Jacquemin E. The spectrum of liver disease related to ABCB4 gene mutations: pathophysiology and clinical aspects. Semin Liver Dis 2010, 30:134-146.
47. Smit J.J., Schinkel A.H., Mol C.A., et al. Tissue distribution of the human MDR3 P-glycoprotein. Lab Invest 1994, 71:638-649.
48. Smit A.J., Timmermans-Hereijgers J.L., Roelofsen B., et al. The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice. FEBS Lett 1994, 354:263-266.
49. van Helvoort A., Smith A.J., Sprong H., et al. MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine. Cell 1996, 87:507-517.
50. Deleuze J.F., Jacquemin E., Dubuisson C., et al. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology 1996, 23:904-908.
51. Dixon P.H., Weerasekera N., Linton K.J., et al. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. Hum Mol Genet 2000, 9:1209-1217.
52. Delaunay J.L., Durand-Schneider A.M., Delautier D., et al. A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature. Hepatology 2009, 49:1218-1227.
53. Gottesman M.M., Hrycyna C.A., Schoenlein P.V., Germann U.A., Pastan I. Genetic analysis of multidrug transporter. Annu Rev Genet 1995, 29:607-649.
54. Rosmorduc O., Hermelin B., Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001, 120:1459-1467.
55. Ziol M., Barbu V., Rosmorduc O., et al. ABCB4 heterozygous mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology 2008, 135:131-141.
56. Wendum D., Barbu V., Rosmorduc O., Arrive L., Flejou J.F., Poupon R. Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. Virchows Arch 2012, 460:291-298.
57. Jacquemin E. Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases. Semin Liver Dis 2001, 21:551-562.
58. Jacquemin E., De Vree J.M., Cresteil D., et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001, 120:1448-1458.
59. Lucena J.F., Herrero J.I., Quiroga J., et al. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003, 124:1037-1042.
60. Sangorrin Iranzo A., Iriondo Sanz M., Alvarez García L., Jara Vega P., Martín de Carpi J. Progressive familial intrahepatic cholestasis presenting as liver failure]. Ann Pediatr (Barc) 2009, 71:510-513. [Article in Spanish].
61. Pawlikowska L., Strautnieks S., Jankowska I., et al. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol 2010, 53:170-178.
62. Davit-Spraul A., Fabre M., Branchereau S., et al. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. Hepatology 2010, 51:1645-1655.
63. Scheimann A.O., Strautnieks S.S., Knisely A.S., Byrne J.A., Thompson R.J., Finegold M.J. Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. J Pediatr 2007, 150:556-559.
64. Knisely A.S., Strautnieks S.S., Meier Y., et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 2006, 44:478-486.
65. Ganne-Carrie N., Baussan C., Grando V., Gaudelus J., Cresteil D., Jacquemin E. Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills. J Hepatol 2003, 38:693-694.
66. Stapelbroek J.M., van Erpecum K.J., Klomp L.W., et al. Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. Hepatology 2006, 43:51-53.
67. Luketic V.A., Shiffman M.L. Benign recurrent intrahepatic cholestasis. Clin Liver Dis 2004, 8:133-149.
68. Folvik G., Hilde O., Helge G.O. Benign recurrent intrahepatic cholestasis: review and long-term follow up of five cases. Scand J Gastroenterol 2012, 47:482-488.
69. Geenes V., Williamson C. Intrahepatic cholestasis of pregnancy. World J Gastroenterol 2009, 15:2049-2066.
70. Pathak B., Sheibani L., Lee R.H. Cholestasis Pregnancy. Obstet Gynecol Clin North Am 2010, 37:269-282.
71. Arnell H., Fischler B., Bergdahl S., Schnell P.O., Jacobsson H., Nemeth A. Hepatobiliary scintigraphy during cholestatic and non-cholestatic periods in patients with progressive familial intrahepatic cholestasis after partial external biliary diversion. J Pediatr Surg 2011, 46:467-472.
72. Müllenbach R., Bennett A., Tetlow N., et al. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut 2005, 54:829-834.
73. Morotti R.A., Suchy F.J., Magid M.S. Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: a review of the liver pathology findings. Semin Liver Dis 2011, 31:3-10.
74. Liu C., Aronow B.J., Jegga A.G., et al. Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. Gastroenterology 2007, 132:119-126.
75. Gonzales E., Gerhardt M.F., Fabre M., et al. Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long term therapy. Gastroenterology 2009, 137:1310-1320.
76. Cullinane A.R., Stratman-Iwanowska A., Zaucker A., et al. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet 2010, 42:303-312.
77. Feranchak A.P., Ramirez R.O., Sokal R.J. Medical and Nutritional Management of Cholestasis. Liver Disease in Children 2001, 195-238. Lippincott, Williams and Wilkins, [Chapter 10]. 2nd ed. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
78. Poupon R. Intrahepatic cholestasis of pregnancy: from bedside to bench to bedside. Liver Int 2005, 25:467-468.
79. Jacquemin E., Hermans D., Myara A., et al. Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology 1997, 25:519-523.
80. Lazaridis K.N., Gores G.J., Lindor K.D. Ursodeoxycholic acid 'mechanisms of action and clinical use in hepatobiliary disorders'. J Hepatol 2001, 35:134-146.
81. Paumgartner G., Beuers U. Ursodeoxycholic acid in cholestatic liver disease: mechanisms of action and therapeutic use revisited. Hepatology 2002, 36:525-531.
82. Dinler D., Kocak N., Ozen H., Yuce A., Gurakan F. Ursodeoxycholic acid in children with Byler disease. Pediatr Int 1999, 41:662-665.
83. Kubitz R., Brinkmeyer C., Sagir A., Herebian D., Haussinger D. Genetic variants of the bile salt exporter pump: inducers and modifiers of liver diseases. Dig Dis 2011, 29:89-92.
84. Whitington P.F., Freese D.K., Alonso E.M., Schwarzenberg S.J., Sharp H.L. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994, 18:134-141.
85. Schukfeh N., Metzelder M.L., Petersen C., et al. Normalization of serum bile acids after partial external biliary diversion indicates an excellent long-term outcome in children with progressive familial intrahepatic cholestasis. J Pediatr Surg 2012, 47:501-505.
86. Davis A.R., Rosenthal P., Newman T.B. Nontransplant surgical interventions in progressive familial intrahepatic cholestasis. J Pediatr Surg 2009, 44:821-827.
87. Whitington P.F., Whitington G.L. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology 1988, 95:130-136.
88. Clifton M.S., Romero R., Ricketts R.R. Button cholecystostomy for management of progressive familial intrahepatic cholestasis syndromes. J Pediatr Surg 2011, 46:304-307.
89. Rebhandl W., Felberbauer F.X., Turnbull J., et al. Biliary diversion by use of the appendix (cholecystoappendicostomy) in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1999, 28:217-219.
90. Bustorff-Silva J., Sbraggia Neto L., Olimpio H., et al. Partial internal biliary diversion through a cholecystojejunocolonic anastomosis - a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. J Pediatr Surg 2007, 42:1337-1340.
91. Diao M., Li L., Zhang J.S., Ye M., Cheng W. Laparoscopic cholecystocolostomy: a novel surgical approach for the treatment of progressive familial intrahepatic cholestasis. Ann Surg 2013, 258:1028-1033.
92. Mochizuki K., Obatake M., Takatsuki M., et al. Partial internal biliary diversion for patients with progressive familial intrahepatic cholestasis type 1. Pediatr Surg Int 2012, 28:51-54.
93. Hollands C.M., Rivera-Pedro F.J., Gonzales-Vallina R., et al. Ileal exclusion for Byler's disease: an alternative surgical approach with promising early results for pruritus. J Pediatr Surg 1998, 33:220-224.
94. Kaliciński P.J., Ismail H., Jankowska I., et al. Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass. Eur J Pediatr Surg 2003, 13:307-311.
95. Aydogdu S., Cakir M., Arikan C., et al. Liver transplantation for progressive familial intrahepatic cholestasis: clinical and histopathological findings, outcome and impact on growth. Pediatr Transplant 2007, 11:634-640.
96. Englert C., Grabhorn E., Richter A., Rogiers X., Burdelski M., Ganschow R. Liver transplantation in children with progressive familial intrahepatic cholestasis. Transplantation 2007, 84:1361-1363.
97. Hori T., Egawa H., Takada Y., et al. Progressive familial intrahepatic cholestasis: a single-centre experience of living-donor liver transplantation during two decades in Japan. Clin Transplant 2011, 25:776-785.
98. Lykavieris P., van Mil S., Cresteil D., et al. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol 2003, 39:447-452.
99. Miyagawa-Hayashino A., Egawa H., Yorifuji T., et al. Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation. Liver Transpl 2009, 15:610-618.
100. Egawa H., Yorifuji T., Sumazaki R., Kimura A., Hasegawa M., Tanaka K. Intractable diarrhoea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin. Liver Transpl 2002, 8:714-716.
101. Nicastro E., Stephenne X., Smets F., et al. Recovery of graft steatosis and protein-losing enteropathy after biliary diversion in a PFIC 1 liver transplanted child. Pediatr Transplant 2012, 16:E177-E182.
102. Maggiore G., Gonzales E., Sciveres M., et al. Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2. J Hepatol 2010, 53:981-986.
103. Ganesh R., Suresh N., Sathiyasekeran M., Ramachandran P. Partial internal biliary diversion: a solution for intractable pruritus in progressive familial intrahepatic cholestasis type 1. Saudi J Gastroenterol 2011, 17:212-214.
104. Sharma D., Shah U.H., Sibal A., Chowdhary S.K. Cholecystoappendicostomy for progressive familial intrahepatic cholestasis. Indian Pediatr 2010, 47:626-628.
105. Koshy A., Ramesh H., Mahadevan P., et al. Progressive familial intrahepatic cholestasis: a case with improvement in liver tests and growth following partial external biliary diversion. Indian J Gastroenterol 2009, 28:107-108.
106. Kaur S., Sharma D., Wadhwa N., Gupta S., Chowdhary S.K., Sibal A. Therapeutic interventions in progressive familial intrahepatic cholestasis: experience from a tertiary care centre in north India. Indian J Pediatr 2012, 79:270-273.
107. Lemoine M., Revaux A., Francoz C., et al. Albumin liver dialysis as pregnancy-saving procedure in cholestatic liver disease and intractable pruritus. World J Gastroenterol 2008, 14:6572-6574.
108. Dhawan A., Mitry R.R., Hughes R.D. Hepatocyte transplantation for liver-based metabolic disorders. J Inherit Metab Dis 2006, 29:431-435.
109. Jung C., Driancourt C., Baussan C., et al. Prenatal molecular diagnosis of inherited cholestatic diseases. J Pediatr Gastroenterol Nutr 2007, 44:453-458.
110. Chen S.T., Chen H.L., Su Y.N., et al. Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2. J Gastroenterol Hepatol 2008, 23:1390-1393.