ABCMdb

PMID: 15236173

Coates SW Jr, Hogenauer C, Santa Ana CA, Rosenblatt RL, Emmett M, Fordtran JS
Inhibition of neutral sodium absorption by a prostaglandin analogue in patients with cystic fibrosis.
Gastroenterology. 2004 Jul;127(1):65-72., [PubMed]

Sentences

No. Mutations Sentence Comment

39 ABCC7 p.Trp1282* Results Of the 5 patients with CF studied with a balanced electrolyte solution, 4 are homozygous for the ⌬F508 mutation and the remaining patient is homozygous for the W1282X mutation. Login to comment 57 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Met1101Lys ABCC7 p.Met1101Lys Sex/age (yr) CFTR mutation analysis Meconium ileus Body mass indexa Forced vital capacity (% predicted) Forced expiratory volume in 1 second (% predicted) Work/school statusb Sweat chloride concentrationc Balanced electrolyte solution 1 M/34 ⌬F508/⌬F508 No 22 64 45 1 120 2 F/20 ⌬F508/⌬F508 No 21 81 91 1 110 3 M/28 ⌬F508/⌬F508 Yes 18 35 23 2 77 4 F/38 ⌬F508/⌬F508 No 22 58 39 3 70 5 F/21 W1282X/W1282X Yes 22 77 76 1 111 Bicarbonate-free solution 1 F/20 ⌬F508/N1303K No 21 28 20 3 100 2 F/22 ⌬F508/⌬F508 No 17 30 22 2 87 3 F/33 ⌬F508/1898ϩ1G-A No 23 112 106 1 113 4 F/27 ⌬F508/⌬I507 No 22 77 56 3 105 5 M/28 ⌬F508/⌬F508 Yes 18 35 23 2 77 6 M/18 ⌬F508/M1101K Yes 21 94 96 1 81 7 M/18 ⌬F508/M1101K Yes 22 98 96 1 96 NOTE. Login to comment 99 ABCC7 p.Trp1282* The response of the patient who is homozygous for the W1282X mutation was similar to the responses of 4 patients who are homozygous for the ⌬F508 mutation. Login to comment 120 ABCC7 p.Trp1282* Four of the 5 patients were homozygous for the ⌬F508 mutation (circles), and one was homozygous for the W1282X mutation (triangle). Login to comment