ABCC7 p.Ile1023Arg
| CF databases: |
c.3068T>C
,
p.Ile1023Thr
(CFTR1)
?
,
|
| Predicted by SNAP2: | A: N (87%), C: N (93%), D: N (57%), E: N (66%), F: N (93%), G: N (87%), H: N (78%), K: N (61%), L: N (97%), M: N (93%), N: N (72%), P: N (57%), Q: N (87%), R: N (66%), S: N (87%), T: N (87%), V: N (97%), W: N (72%), Y: N (87%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: N, H: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Cystic fibrosis: Experience in one institution. J Microbiol Immunol Infect. 2012 Sep 16. pii: S1684-1182(12)00118-1. doi: 10.1016/j.jmii.2012.06.005. Liu LC, Shyur SD, Chu SH, Huang LH, Kao YH, Lei WT, Cheng CH, Lo CY, Chen CK, Fang LC
Cystic fibrosis: Experience in one institution.
J Microbiol Immunol Infect. 2012 Sep 16. pii: S1684-1182(12)00118-1. doi: 10.1016/j.jmii.2012.06.005., [PMID:22992393]
Abstract [show]
Cystic fibrosis (CF) is one of the most common autosomal recessive inherited disorders among Caucasians. Comparatively, it is considered to be a rare disease among Asians. To date, only a few cases of Taiwanese CF have been published. We report four CF cases from three families. Case 1 was the first report of CF associated with a homozygosity for the CF transmembrane conductance regulator gene (CFTR gene) mutation 3849+10kb C->T in a Taiwanese patient. Cases 2 and 3 had heterozygous c. 1898+5 G->T and heterozygous p. I1023R (novel mutation) for the CFTR gene mutation. Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 and complicated with cor pulmonale. These four patients had received 300 mg bid aerosolized tobramycin treatment every other month.
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No. Sentence Comment
5 Cases 2 and 3 had heterozygous c. 1898þ5 G->T and heterozygous p. I1023R (novel mutation) for the CFTR gene mutation.
X
ABCC7 p.Ile1023Arg 22992393:5:70
status: NEW36 CF was suspected due to recurrent P aeruginosa pneumonia and pneumothorax and was confirmed by gene analysis with heterozygous c. 1898þ5 G->T and heterozygous p. I1023R mutation (novel mutation) at the age of 16 years.
X
ABCC7 p.Ile1023Arg 22992393:36:167
status: NEW37 His mother had a heterozygous mutation in p. I1023R and his father had a heterozygous mutation in c. 1898þ5 G- >T (Fig. 2).
X
ABCC7 p.Ile1023Arg 22992393:37:45
status: NEW47 CF was suspected and also confirmed by DNA analysis, with heterozygous c. 1898þ5 G->T and heterozygous p. I1023R mutations (Fig. 2).
X
ABCC7 p.Ile1023Arg 22992393:47:110
status: NEW71 The gene mutation in Case 1 was 3849þ10kb C/T, which has an incidence of about 0.7% worldwide.5 Cases 2 and 3 had heterozygous c. 1898þ5 G- >T and heterozygous p. I1023R mutations.
X
ABCC7 p.Ile1023Arg 22992393:71:173
status: NEW70 The gene mutation in Case 1 was 3849&#fe;10kb C/T, which has an incidence of about 0.7% worldwide.5 Cases 2 and 3 had heterozygous c. 1898&#fe;5 G- >T and heterozygous p. I1023R mutations.
X
ABCC7 p.Ile1023Arg 22992393:70:171
status: NEW[hide] Acute appendicitis mimicking intestinal obstructio... J Formos Med Assoc. 2012 Oct;111(10):580-3. doi: 10.1016/j.jfma.2012.07.011. Epub 2012 Sep 10. Chen CH, Chang CC, Yang BY, Lin PY, Wang CS
Acute appendicitis mimicking intestinal obstruction in a patient with cystic fibrosis.
J Formos Med Assoc. 2012 Oct;111(10):580-3. doi: 10.1016/j.jfma.2012.07.011. Epub 2012 Sep 10., [PMID:23089694]
Abstract [show]
Cystic fibrosis (CF) is an inherited disease of the secretory glands caused by mutations of the cystic fibrosis transmembrane regulator (CFTR) gene. The clinical manifestations of CF are repetitive lung infections, biliary cirrhosis, pancreatic abnormalities, and gastrointestinal disorders. We report a 21-year-old Taiwanese man with CF who had abdominal pain for 2 days. The diagnosis of CF had been confirmed by peripheral blood analysis of the CFTR gene 5 years before admission. He presented to the emergency department with nausea, vomiting, abdominal distension, and crampy abdominal pain, which is atypical for acute appendicitis. The physical examination and a series of studies revealed intestinal obstruction, but acute appendicitis could not be ruled out. After conservative treatment, together with empiric antibiotics, the refractory abdominal pain and leukocytosis with a left-shift warranted surgical intervention. A diagnostic laparoscopy revealed a swollen, hyperemic appendix, a severely distended small intestine, and serous ascites. The laparoscopic procedure was converted to a laparotomy for open disimpaction and appendectomy. He was discharged on the eighth postoperative day. The histologic examination of the appendix was consistent with early appendicitis. In conclusion, acute abdominal pain in adult CF patients is often associated with intestinal obstruction syndrome. The presentation of concurrent appendicitis may be indolent and lead not only to diagnostic difficulties, but also a number of therapeutic choices.
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No. Sentence Comment
28 Sweat chloride tests were remarkably high (>100 meq/l), but it was not until 5 years previously that a diagnosis of CF was confirmed by peripheral blood analysis of CFTR gene (heterozygous c.1898 &#fe; 5G > T and heterozygous p. I1023R).
X
ABCC7 p.Ile1023Arg 23089694:28:229
status: NEW