Progressive familial intrahepatic cholestasis type 2 – paediatric patients followed at the Paediatric Clinic of the 2^nd Medical Faculty, University Hospital Motol, Prague

Česká verzia

Authors: R. Kotalová ¹; E. Sticová ²; M. Jirsa ³
Authors place of work: Pediatrická klinika 2. LF UK a FN v Motole, Praha ¹; Pracoviště klinické a transplantační patologie, Transplantcentrum, IKEM, Praha ²; Laboratoř experimentální hepatologie, Centrum experimentální medicíny, IKEM, Praha ³
Published in the journal: Gastroent Hepatol 2015; 69(6): 547-553
Category:
doi: https://doi.org/10.14735/amgh2015547

Summary

Summary:
Progressive familial intrahepatic cholestasis type 2 is an autosomal recessive cholestatic liver disease caused by a deficiency in canalicular ATP-dependent bile salt export pump BSEP. We present case reports and collected data of six Czech patients suffering from this disease, diagnosed between 2005 and 2015, in whom seven new mutations in ABCB11 were revealed by molecular analysis.

Key words:
progressive familial intrahepatic cholestasis type 2 - BSEP – ursodeoxycholic acid – pruritus – liver transplantation

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE „uniform requirements“ for biomedical papers.

Submitted:
20. 11. 2015

Accepted:
27. 11. 2015

Zdroje

1. Jacquemin E. Progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol 2012; 36 (Suppl 1): S26– S35. doi: 10.1016/ S2210-7401(12)70018-9.

2. Strautnieks SS, Bull LN, Knisely AS et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998; 20(3): 233– 238.

3. Jansen PL, Müller M. The molecular genetics of familial intrahepatic cholestasis. Gut 2000; 47(1): 1– 5.

4. Gerloff T, Stieger B, Hagenbuch B et al. The sister of P-glycoprotein represents thecanalicular bile salt export pump of mammalian liver. J Biol Chem 1998; 273(16): 10046– 10050.

5. Davis RA, Miyake JH, Hui TY et al. Regulation of cholesterol-7alpha-hydroxylase: BAREly missing SHP. J Lipid Res 2002; 43(4): 533– 543.

6. Thompson R, Strautnieks SS. BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis 2001; 21(4): 545– 550.

7. Kaliciński PJ, 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(5): 307– 311.

8. Knisely AS, Strautnieks SS, Meier Y et al. Hepatocellular carcinoma in ten children under five years old with bile salt export pump deficiency. Hepatology 2006; 44(2): 478– 486.

9. Scheimann AO, Strautnieks SS, Knisely ASet al. Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. J Pediatr 2007; 150(5): 556 – 559.

10. Kotalová R, Cebecauerová D, Knisely AS et al. Progresivní familiární intrahepatální cholestáza – manifestace a diagnostika v kojeneckém věku. Čes-slov Pediat 2006; 61(4): 200– 206.

11. Balistreri WF. Neonatal cholestatis. J Pediatr 1985; 106(2): 171– 184.

12. McKiernan PJ. Neonatal cholestasis. Semin Neonatol 2002; 7(2): 153– 165.

13. Davit-Spraul A, Gonzales E, Baussan C et al. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 2009; 4: 1. doi: 10.1186/ 1750-1172-4-1.

14. Naoi S, Hayashi H, Inoue T et al. Improved liver function and relieved pruritus after 4-phenylbutyrate therapy in a patient with progressive familial intrahepatic cholestasis type 2. J Pediatr 2014; 164(5): 1219– 1227. doi: 10.1016/ j.jpeds.2013.12.032.

15. Engelmann G, Wenning D, Herebian D et al. Two case reports of successful treatment of cholestasis with steroids in patients with PFIC-2. Pediatrics 2015; 135(5): e1326– e1332. doi: 10.1542/ peds.2014– 2376.

16. Strautnieks SS, Byrne JA, Pawlikowska Let al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 2008; 134(4): 1203– 1214. doi: 10.1053/ j.gastro.2008.01.038.

17. Richter A, Grabhorn E, Schulz A et al. Hepatoblastoma in a child with progressive familial intrahepatic cholestasis. Pediatr Transplant 2005; 9(6): 805– 808.