Search results for "Recurrent pancreatitis"
showing 4 items of 4 documents
PO-0359 How To Select The Sweat Test Candidate. 10 Years Of Experience In Screening For Cystic Fibrosis In Children
2014
Background Sweat test (ST) remains gold standard in cystic fibrosis (CF) diagnosis. Alarm symptoms are age-related. Aims Retrospective review of cases subjected to ST. Methods Patients were selected by paediatricians, neonatologists, surgeons, based on suggestive symptoms, personal (PH) and familial history (FH). Inclusion criteria: for 0–1 month age group, patients with PH of atelectasis, meconium ileus, intussusception; 1–12 months, recurrent wheezing (RW), failure to thrive (FTT); 1–5 years, previous group symptoms, plus chronic cough/diarrhoea; >5 years, 1–5 years symptoms, plus recurrent pancreatitis/sinusitis. For all age, patients with PH of salty taste of sweat (STS), salt wasting s…
Albumin versus solvent/detergent-treated pooled plasma as replacement fluid for long-term plasma exchange therapy in a patient with primary hypertrig…
2015
BACKGROUND Chylomicronemia syndrome is a metabolic condition characterized by severe fasting hypertrigliceridemia (≥1000 mg/dL) and other clinical features including chronic abdominal pain and recurrent acute pancreatitis. In patients with acute or recurrent pancreatitis, plasma exchange (PEx) is indicated for the treatment of acute disease and prevention of recurrence. The use of plasma instead of albumin as replacement fluid has been suggested for its putative ability to replace the deficient enzyme possibly leading to better clinical improvement. CASE REPORT A 40-year-old man with chylomicronemia syndrome due to a newly identified loss-of-function mutation in the lipoprotein lipase (LPL)…
Extensive molecular analysis of patients bearing CFTR-related disorders.
2012
Cystic fibrosis transmembrane conductance regulator (CFTR)–related disorders (CFTR-RDs) may present with pancreatic sufficiency, normal sweat test results, and better outcome. The detection rate of mutations is lower in CFTR-RD than in classic CF: mutations may be located in genes encoding proteins that interact with CFTR or support channel activity. We tested the whole CFTR coding regions in 99 CFTR-RD patients, looking for gene mutations in solute carrier (SLC) 26A and in epithelial Na channel (ENaC) in 33 patients who had unidentified mutations. CFTR analysis revealed 28 mutations, some of which are rare. Of these mutations, RT-PCR demonstrated that the novel 1525-1delG impairs exon 10 s…
Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome
2020
Background: Familial chylomicronemia syndrome (FCS) is characterized by severe fasting hypertriglyceridemia, abdominal pain, and recurrent acute pancreatitis. Available triglyceride-lowering drugs are insufficient to avoid pancreatitis. Therefore, there is a significant unmet medical need for effective triglyceride-lowering drugs for patients with FCS. Case report: We report the second case of a patient with FCS and recurrent pancreatitis treated with lomitapide. Lomitapide treatment resulted in a reduction of fasting TG levels from 2897 mg/dL (32.71 mmol/L) to an average of 954 mg/dL (10.77 mmol/L) on the 30 mg lomitapide equating to a 67% reduction from baseline. After 26 months of lomita…