0000000000460383
AUTHOR
Heiko Witt
showing 2 related works from this author
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C
2016
Objective Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing. Design We performed whole-exome sequencing and chromosomal microarray analyses in 4 unrelated patients, followed by confirmatory Sanger sequencing of the likely disease-causing mutations in patients and in their family members, followed by functional studies. Results We identified novel de novo missense mutations in GUCY2C, the gene encod…
Rapid progression of a splenic aneurysm due to segmental arterial mediolysis: a rare cause of acute pancreatitis.
2013
Abstract Background The etiology of acute pancreatitis can be manifold, beside the usual causes. We are reporting an unusual cause that triggered acute pancreatitis. Patient & results A 50 year-old male experienced attacks of acute pancreatitis (abdominal pain and elevated amylase and lipase) during sexual arousal. Serial imaging showed a rapidly-progressing, partly-thrombosed splenic artery aneurysm, with local compression of the pancreas. After angiographic coiling, the attacks subsided. Further angiography revealed additional aneurysms consistent with segmental arterial mediolysis at other sites of the body. Molecular analysis regarding Ehlers–Danlos-syndrome and genetic factors for panc…