Search results for "Fat malabsorption"

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

2011

Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…

Efficacy of oral pancreatic enzyme therapy for the treatment of fat malabsorption in HIV-infected patients

2001

Exocrine Pancreatic Function and Fat Malabsorption in Human Immunodeficiency Virus-Infected Patients

1999

BACKGROUND: Nutrients malabsorption frequently occurs in human immunodeficiency virus (HIV)-infected patients, but very few studies have investigated exocrine pancreatic digestive capacity in these patients. We therefore evaluated the frequency of exocrine pancreatic impairment and its eventual relation with fat malabsorption in HIV-infected patients. METHODS: Thirty-five HIV-infected patients (30 male, 5 female: mean age +/- standard deviation, 33.6 +/- 7.2 years) and 51 sex- and age-matched controls without gastroenterologic diseases were studied. In all subjects fecal elastase 1 (EL-1) was assayed, and fecal fat excretion was evaluated with the steatocrit test. RESULTS: Nineteen of 35 (5…

Pancreatic dysfunction and its association with fat malabsorption in HIV infected children

1998

Background—Nutrient malabsorption frequently occurs in HIV infected children, but very few studies have investigated exocrine pancreatic digestive capacity in these cases.Aims—To investigate pancreatic function in HIV infected children and to determine whether faecal fat loss, a prominent feature of intestinal dysfunction, is associated with pancreatic dysfunction.Patients—Forty seven children with HIV infection without apparent pancreatic disease and 45 sex and age matched healthy controls.Methods—Pancreatic function was evaluated by measuring elastase 1 concentration and chymotrypsin activity in stools by ELISA and colorimetric methods, respectively. Intestinal function was evaluated by m…

Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene

2010

Chylomicron retention disease is a recessive inherited disorder characterized by fat malabsorption and steatorrhea and is associated with failure to thrive in infancy. We describe a kindred carrying a mutation of Sara2 gene causing a chylomicron retention phenotype. The proband was a 5-month-old baby, born of consanguineous, apparently healthy parents from Morocco, with failure to thrive. There was a large quantity of fats in feces and malabsorption of fat-soluble vitamins. Intestinal biopsies showed a diffused enterocyte vacuolization with large cytosolic lipid droplets. Chylomicron retention disease or Anderson disease was hypothesized, and the Sara2 gene was analyzed by direct sequencing…

Influences of obesity and weight loss on thyroid hormones. A 3-3.5-year follow-up study on obese subjects with surgical bilio-pancreatic by-pass

1997

The effects of changing body size, energy intake and substrate oxidation on serum T4, FT4, T3, FT3 and TSH were investigated in ten morbidly obese subjects (4 men/6 women; age: 37 ± 6 years; BMI: 53.8 ± 6.5 kg/m2; mean ± SD) who had undergone a surgical bilio-pancreatic by-pass in order to reduce their body weight. The starting value of serum FT3 was inversely related to the BMI (r = -0.63; p < 0.05). After 1-3 months, all the subjects were losing weight and their intake of carbohydrates was almost negligible; at this time a significant reduction of T3 (-14.6%, p < 0.0001), T4 (-19.5%, p < 0.0001), and FT3 (-10.5%, p < 0.001) was observed. Nine to 16 months after surgery, all th…