Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Obstructive jaundice, pruritus, and malabsorption developed in twin brothers in infancy. Early liver biopsy specimens showed intracellular and canalicular cholestasis with normal bile ducts. By the age of 3 years, both had cirrhosis and portal hypertension. Each died during the teen years from hepatocellular carcinoma. These brothers represent the tenth reported family with familial cholestatic cirrhosis, and they are the first patients with this syndrome in whom hepatoma developed.
 ...
PMID:Hepatoma in familial cholestatic cirrhosis of childhood: its occurrence in twin brothers. 21 1

Spontaneous internal biliary fistulas are complications of biliary disease and may themselves be the source of further complications. Instances of the latter observed in a series of 28 bilio-digestive and 18 bilio-biliary forms are described: angiocolitis, biliary peritonitis, cholangitic cirrhosis, diarrhoea and malabsorption syndrome, haemorrhage, biliary ileus and Bouveret syndrome. Stress is laid on the need for early diagnosis and early surgery. It is pointed out that there is no such thing as an innocuous biliary calculus.
 ...
PMID:[Complication of spontaneous internal biliary fistulae (experiences in 46 cases)]. 33 27

Cystic fibrosis (CF) is a common autosomal-recessive inherited disease, which often results in premature death. Due to treatment advances, life expectancy has however continuously improved in recent years. Currently about half of all patients are adults. There are also "atypical" variants of CF with symptoms occurring in late adulthood. CF is caused by a mutation in the gene coding for a chloride ion channel, known as the cystic fibrosis transmembrane conductance regulator (CFTR). This mutation results in abnormally viscous mucosal secretions, leading to multi-organ disease with particular emphasis in the respiratory and digestive tracts. Impaired mucociliary clearance results in bacterial colonization of the airways (e. g. Pseudomonas aeruginosa) and consequently in chronic pulmonary inflammation, inevitably leading to progressive bronchiectasis and combined ventilatory disorders. Typical acute complications are infective exacerbations - the most frequent cause of death in cystic fibrosis - along with allergic bronchopulmonary aspergillosis, haemoptyses and pneumothoraces. Involvement of the gastrointestinal tract generally manifests as exo- and later endocrine pancreatic insufficiency with diabetes mellitus, malabsorption and sometimes biliary liver cirrhosis. Typical acute complications are pancreatitis and ileus. The article describes epidemiology and pathophysiology of CF and focuses on the signs and symptoms, as well as the diagnostic and multi-modal therapeutic strategies used in adult patients.
 ...
PMID:[Cystic fibrosis in adults]. 2012 4