ABCMdb

PMID: 10915740

Kinnman N, Lindblad A, Housset C, Buentke E, Scheynius A, Strandvik B, Hultcrantz R
Expression of cystic fibrosis transmembrane conductance regulator in liver tissue from patients with cystic fibrosis.
Hepatology. 2000 Aug;32(2):334-40., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Arg764* In 2 patients homozygous for R764X and for 1112delT no CFTR immunoreactivity was detected. Login to comment 25 ABCC7 p.Arg764* Four patients were homozygous and 5 patients heterozygous for ⌬F508, whereas 2 patients were homozygous for R764X and for 1112delT. Login to comment 49 ABCC7 p.Arg764* ABCC7 p.Arg764* ABCC7 p.Val603Phe Clinical and Laboratory Data in Patients With CF at the Time of Liver Biopsy Patient No Genotype Gender/ Age (yr) Body Weight (kg) Height (cm) FEV1.0 (% pred) Serum ALT (␮kat/L) GGT (␮kat/L) Blood Prothrombin time (%) 1 ⌬F508/⌬F508 F/10 38 137 85 0.55 0.20 89 2 ⌬F508/⌬F508 M/10 33 146 99 0.44 0.22 55 3 ⌬F508/⌬F508 M/13 48 168 91 0.54 0.41 64 4 ⌬F508/⌬F508 M/18 69 180 82 0.78 0.59 37 5 ⌬F508/1112delT M/4 16 101 ND 0.85 0.73 38 6 ⌬F508/E640 F/8 29 138 84 0.52 0.39 92 7 ⌬F508/V603F F/8 22 122 100 0.56 0.17 115 8 ⌬F508/394delTT F/10 23 127 90 0.44 0.20 112 9 ⌬F508/3659delC M/38 60 165 103 0.49 1.10 86 10 1112delT/1112delT M/5 22 108 ND 0.63 0.11 122 11 R764X/R764X M/22 68 188 72 0.56 0.26 67 NOTE. Reference range: ALT, F Ͻ .60, M Ͻ .80; GGT, F Ͻ .8, M Ͻ 1.3; Blood-prothrombin time, 70-130. Login to comment 52 ABCC7 p.Arg764* ABCC7 p.Arg764* ABCC7 p.Val603Phe Ultrasonographic and Light Microscopic Findings of the Liver in Patients With CF Patient No Genotype Ultrasonography Light Microscopy Echogenecity Microgallbladder Fatty Infiltration Inflammatory Cells Bile-Duct Proliferation Fibrosis 1 ⌬F508/⌬F508 - No ϩ - ϩ ϩϩ 2 ⌬F508/⌬F508 ϩϩ No ϩ - - - 3 ⌬F508/⌬F508 ϩ No ϩ - - ϩ 4 ⌬F508/⌬F508 ϩϩ ND ϩϩ ϩϩ ϩ ϩ 5 ⌬F508/1112delT - No - ϩϩ ϩϩ ϩϩϩ 6 ⌬F508/E640 ϩ No - ϩ - - 7 ⌬F508/V603F - No ϩϩ - ϩ ϩ 8 ⌬F508/394delTT - No - - - ϩ 9 ⌬F508/3659delC ϩϩ No ϩϩ - - ϩ 10 1112delT/1112delT - Yes - - - ϩ 11 R764X/R764X ϩϩ Yes ϩϩ - - ϩ NOTE. Login to comment 92 ABCC7 p.Arg764* ABCC7 p.Arg764* ABCC7 p.Val603Phe Results of Immunohistochemical Staining in Liver Sections from CF Patients Patient No Genotype CFTR CK 19 ICAM-1 ␣-SMA CD 3 CD68 1 ⌬F508/⌬F508 ϩϩ ϩϩ ϩ ϩϩ ϩ N 2 ⌬F508/⌬F508 ϩϩ ϩ - - N N 3 ⌬F508/⌬F508 ϩϩ ϩ - - N N 4 ⌬F508/⌬F508 ϩϩ ϩϩ - ϩ ϩϩ ϩ 5 ⌬F508/1112delT ϩ ϩϩϩ ϩ ϩϩ ϩϩ ϩ 6 ⌬F508/E640 ϩ ϩ - - ϩ N 7 ⌬F508/V603F ϩ ϩϩ ϩ ϩ N N 8 ⌬F508/394delTT ϩ ϩ - - N N 9 ⌬F508/3659delC ϩ ϩ - ϩϩ N N 10 1112delT/1112delT - ϩ - ϩϩ N N 11 R764X/R764X - ϩ - ϩϩ N N NOTE. CFTR: - negative staining, ϩ weak positive staining of bile-duct cells, ϩϩ positive staining of bile-duct cells. Login to comment 101 ABCC7 p.Arg764* In the 2 CF patients homozygous for 1112delT and R764X, CFTR protein could not be detected. Login to comment 127 ABCC7 p.Arg764* In the patients homozygous for 1112delT and for R764X, CFTR protein could not be detected. Login to comment