ABCMdb

PMID: 24644547

Lisowska A, Kobelska-Dubiel N, Jankowska I, Pawlowska J, Moczko J, Walkowiak J
Small intestinal bacterial overgrowth in patients with progressive familial intrahepatic cholestasis.
Acta Biochim Pol. 2014;61(1):103-7. Epub 2014 Mar 17., [PubMed]

Sentences

No. Mutations Sentence Comment

42 ABCB11 p.Asp482Gly ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly ABCB11 p.Asn515Thr biochemical and genetic data of the studied patients Sex ABCB11 gene defect HMBT first/ second/ third Age (y) Body mass, Z-score Height, Z-score Treatment Bilirubin (mg/dl) Bile acids (&#b5;mol/l) Fecal fat excretion (g/day) M - B/-/- 7 -0.67 -0.77 BD 0.9 1.4 10 M - B/B/N 7.11 -0.88 -1.21 BD 0.9 1.5 6.7 F - B/P/- 15 -0.41 -1.36 BD 0.6 3.6 9.9 F - B/N/- 8.11 -0.25 -1.11 IB/BD 0.9 4.1 0.5 M c.1445 A>G; p.Asp482Gly. c.1544 A>C; p.Asn515Thr B/-/- 11.4 -1.99 -3.42 BD 0.9 2.6 2.1 M c.890 A>G; p.Glu297Gly (HOM) P/N/- 19.7 0.41 0.56 IB 1.1 405 2.2 F - P/N/- 12.11 -1.31 -0.73 UDCA 1.5 21.7 1.1 F c.1445 A>G; p.Asp482Gly. Login to comment 43 ABCB11 p.Asp482Gly ABCB11 p.Arg517His c.1550 G>A; p.Arg517His P/P/- 10.9 0.02 -0.79 BD 0.9 4.8 2.4 F - P/B/P 18.2 -0.25 -1.06 BD 0.9 8.7 9.7 M c.1445 A>G; p.Asp482Gly. Login to comment 44 ABCB11 p.Gly562Asp ABCB11 p.Thr859Arg c.1685 G>A; p.Gly562Asp P/N/- 16.6 -1.34 -1.75 BD 1.2 73.6 4.1 M No parental consent for genetic tests P/N- 11.1 -1.50 -4.07 BD 4.3 364.4 4.3 F c.2576 C>G; p.Thr859Arg. Login to comment 45 ABCB11 p.Asp482Gly ABCB11 p.Asp482Gly ABCB11 p.Asn515Thr c.2178+1 G>C; Splice Defect P/-/- 14.5 -1.09 -1.38 UDCA 1.3 0.5 0.3 M c.1445 A>G; p.Asp482Gly. c.1544 A>C; p.Asn515Thr P/-/- 11.4 -0.81 -0.60 BD 0.9 4 1.5 F c.1445 A>G; p.Asp482Gly. Login to comment 46 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly ABCB11 p.Glu297Gly c.890 A>G; p.Glu297Gly P/P/P 9.8 -1.01 -1.48 BD 0.9 4 4.5 M c.890 A>G; p.Glu297Gly (HET) N/-/- 12.5 0.83 -1.14 BD 1.1 2.1 2 M c.1445 A>G; p.Asp482Gly. Login to comment 47 ABCB11 p.Glu297Gly ABCB11 p.Arg832Cys c.2494 C>T; p.Arg832Cys N/-/- 11.9 -1.73 -3.27 BD 0.9 5.6 13 M c.890 A>G; p.Glu297Gly. Login to comment 48 ABCB11 p.Asp482Gly ABCB11 p.Asp482Gly ABCB11 p.Asp482Gly ABCB11 p.Asp482Gly ABCB11 p.Phe548Tyr c.1643 T>A; p.Phe548Tyr N/-/- 13.1 -1.13 -1.49 BD 1.4 3.5 70 M c.1445 A>G; p.Asp482Gly* N/-/- 8.9 -0.72 0.07 UDCA 0.9 3.1 1.2 M - N/-/- 18.5 -1.51 -2.26 IB/BD 0.9 67.8 4.3 M c.1445 A>G; p.Asp482Gly (HOM) N/-/- 20.7 -0.90 -0.38 UDCA 0.9 2.4 8.5 M c.1445 A>G; p.Asp482Gly (HOM) N/-/- 13.5 -1.15 -1.15 UDCA 0.9 2.4 6.2 F c.1445 A>G; p.Asp482Gly (HOM) N/-/- 24.2 -1.68 -2.21 BD 0.9 2.4 2.7 F c.1445 A>G; p.Asp482Gly. Login to comment 49 ABCB11 p.Asp482Gly ABCB11 p.Thr1029Lys c.3086 C>A; p.Thr1029Lys N/-/- 12.11 -1.31 -1.71 UDCA 0.9 8.8 8.9 M - N/-/- 12.7 0.34 -1.63 UDCA 0.9 7.7 0.3 F - N/-/- 15.6 -1.05 0.70 BD 1.7 4.3 3.7 M c.1445 A>G; p.Asp482Gly. Login to comment 50 ABCB11 p.Ala588Val c.1763 C>T; p.Ala588Val N/-/- 20.5 -2.01 -2.42 BD 2.2 2 8.2 F - female, M - mal, P - positive, N - negative, B - borderline, BD - biliary diversion, UDCA - ursodeoxycholic acid, IB - ileal bypass, HMBT - hydrogen-methane breath test. Login to comment