Abstract | AIM: We investigated extra-cardiac clinical symptoms and signs in the rare Jervell and Lange-Nielsen Syndrome, characterised by impaired KCNQ1 function, a gene essential for gastric acid secretion. METHODS: All Swedish Jervell and Lange-Nielsen cases with double KCNQ1 mutations (14 cases) were investigated by medical record review, an interview, and were offered laboratory testing for iron-deficiency anaemia and gastrointestinal markers. RESULTS: A history of iron-deficiency anaemia in 12 of 14 patients and subjective gastrointestinal symptoms in 13 of 14 patients was revealed. Previous endoscopy in five cases had revealed no case of coeliac or inflammatory bowel disease but three cases of mucosal hyperplasia/dysplasia. Current signs of anaemia or iron substitution were present in 9 of 12 tested cases. Elevated levels of gastrin in seven of nine cases, pepsinogen in six of seven cases, and faecal calprotectin in nine of nine cases were present. A significant correlation between elevated gastrin levels and concurrent iron-deficiency and/or anaemia was revealed (p-value 0.039). CONCLUSIONS:
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Authors | Annika Winbo, Olof Sandström, Richard Palmqvist, Annika Rydberg |
Journal | Cardiology in the young
(Cardiol Young)
Vol. 23
Issue 3
Pg. 325-34
(Jun 2013)
ISSN: 1467-1107 [Electronic] England |
PMID | 22805636
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Biomarkers
- Gastrins
- KCNQ1 Potassium Channel
- Leukocyte L1 Antigen Complex
- Pepsinogen A
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Topics |
- Adolescent
- Adult
- Aged, 80 and over
- Anemia, Iron-Deficiency
(genetics)
- Biomarkers
(metabolism)
- Biopsy
- Child
- Child, Preschool
- Female
- Gastrins
(metabolism)
- Gastroscopy
- Genotype
- Humans
- Hyperplasia
(genetics, pathology)
- Interviews as Topic
- Jervell-Lange Nielsen Syndrome
(genetics)
- KCNQ1 Potassium Channel
(genetics)
- Leukocyte L1 Antigen Complex
(metabolism)
- Male
- Middle Aged
- Mutation
- Pepsinogen A
(metabolism)
- Phenotype
- Stomach
(pathology)
- Sweden
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