Endoscopic Assessment in Abetalipoproteinemia (Bassen-Kornzweig-Syndrome)

Delpre, G; Kadish, U; Glantz, I.; Avidor, I

doi:10.1055/s-0028-1098264

Cited by 14 publications

(8 citation statements)

References 7 publications

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“…Indeed, the heart has been shown to express the ApoB, the microsomal triglyceride transfer protein and the SARA2 genes and to secrete apoB-containing lipoprotein particles (18,19). Some cases of death by cardiomyopathy have been reported in abetalipoproteinemia, which is also consistent with a toxicity of cardiac lipid accumulation directly linked to the lipoprotein B secretory defect (20)(21)(22).…”

Section: Discussionmentioning

confidence: 95%

Anderson’s disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities

et al. 2008

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Anderson's disease (AD) or chylomicron retention disease (CMRD) is a rare hereditary lipid malabsorption syndrome linked to SARA2 gene mutations. We report in this study a novel mutation in two sisters for which the Sar1b protein is predicted to be truncated by 32 amino acids at its carboxyl-terminus. Because the SARA2 gene is also expressed in the muscle, heart, liver and placenta, extraintestinal clinical manifestations may exist. For the first time, we describe in this study in the two sisters muscular as well as cardiac abnormalities that could be related to the reported expression of SARA2 in these tissues. We also evaluated six other patients for potential manifestations of the SARA2 mutation. The creatine phosphokinase levels were increased in all patients [1.5-9.4 x normal (N)] and transaminases were moderately elevated in five of the eight patients (1.2-2.6 x N), probably related to muscle disease rather than to liver dysfunction. A decreased ejection fraction occurred in one patient (40%, N: 60%). The muscle, liver and placental tissues that were examined had no specific abnormalities and, in particular, no lipid accumulation. These results suggest that myolysis and other extraintestinal abnormalities can occur in AD/CMRD and that the clinical evaluation of patients should reflect this.

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Section: Discussionmentioning

confidence: 95%

Anderson’s disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities

et al. 2008

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“…Endoscopic examination of the intestine reveals a "gelée blanche" or white hoar frosting appearance (2,46,171,212). This coating of the duodenum and jejunum reflects the infiltration of the mucosa by lipids.…”

Section: Clinical Characteristics Of Abetalipoproteinemiamentioning

confidence: 99%

The Role of the Microsomal Triglygeride Transfer Protein in Abetalipoproteinemia

et al. 2000

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The microsomal triglyceride transfer protein (MTP) is a dimeric lipid transfer protein consisting of protein disulfide isomerase and a unique 97-kDa subunit. In vitro, MTP accelerates the transport of triglyceride, cholesteryl ester, and phospholipid between membranes. It was recently demonstrated that abetalipoproteinemia, a hereditary disease characterized as an inability to produce chylomicrons and very low-density lipoproteins in the intestine and liver, respectively, results from mutations in the gene encoding the 97-kDa subunit of the microsomal triglyceride transfer protein. Downstream effects resulting from this defect include malnutrition, very low plasma cholesterol and triglyceride levels, altered lipid and protein compositions of membranes and lipoprotein particles, and vitamin deficiencies. Unless treated, abetalipoproteinemic subjects develop gastrointestinal, neurological, ophthalmological, and hematological abnormalities.

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“…Impairment of fat absorption in the intestinal villi results in characteristic changes in the mucosal surface of the small intestine, 5 and these changes are easily observed by upper gastrointestinal endoscopy. For example, Whipple's disease is characterized endoscopically by an edematous and inflamed mucosa with yellowish‐white deposits, partly separate, partly confluent, resulting in a flask‐like, clumsy distension of the villi 7 .…”

Section: Discussionmentioning

confidence: 99%

“…At panendoscopy, the second part of the duodenum is usually observed, and diffuse white deposits are found in some patients. This endoscopic finding is considered to reflect abnormal lipid transport from the villi of the small intestine 5 . The aim of the present study is to evaluate the relationship between white deposits observed in the duodenum and malabsorption of nutrients.…”

Section: Introductionmentioning

confidence: 95%

Diffuse White Deposits of the Duodenum May Suggest Delayed Glucose Absorption

Urita

Domon

Ishihara³

et al. 2007

Digestive Endoscopy

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Background:The aim of the present study was to evaluate the relationship between white deposits observed in the duodenum and malabsorption of nutrients. Methods: 132 consecutive subjects presenting with diagnostic upper endoscopy were recruited in this study. 13 C-acetate was given intraduodenally in 65 patients and 13 C-glucose in 67 patients. At the end of endoscopy, the tip of the endoscope was placed in the second part of the duodenum and 20 mL water containing 100 mg 13 C-substrate was sprayed onto the duodenal mucosa. Breath samples were taken at baseline and at 10 min intervals. Results: There were no significant differences between 13 CO2 excretion and the grade of white deposits after giving intraduodenal 13 C-acetate. A delay in the 13 CO2 excretion curve in patients with a body mass index of more than 26 was noted after giving 13 C-glucose and there was a significant delay in 13 CO2 excretion in the 'diffuse' group as compared with the other two groups. The mean values of 13 CO2 were significantly lower in obese patients than in non-obese subjects. Conclusion: Results from the duodenal infusion study using stable isotopes demonstrate a close association between diffuse white deposits on the duodenal mucosa and delayed glucose absorption.

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Endoscopic Assessment in Abetalipoproteinemia (Bassen-Kornzweig-Syndrome)

Abstract: Duodenal mucosal changes in a 26-year-old patient with Bassen-Kornzweig-syndrome are presented.

Cited by 14 publications

References 7 publications

Anderson’s disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities

Anderson’s disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities

The Role of the Microsomal Triglygeride Transfer Protein in Abetalipoproteinemia

Diffuse White Deposits of the Duodenum May Suggest Delayed Glucose Absorption

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