Chylomicron retention disease: A rare cause of chronic diarrhea

Ameur, S. Ben; Aloulou, Hajer; Jlidi, N.; Kamoun, Fatma; Chabchoub, I.; Filippo, Mathilde Di; Sfaihi, Lamia; Hachicha, M.

doi:10.1016/j.arcped.2016.04.010

Cited by 6 publications

(2 citation statements)

References 6 publications

(14 reference statements)

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“…These defective SAR1B proteins result in a failure to transport chylomicrons from ER to Golgi complex [6]. To date, about 20 mutations have been reported in roughly 50 patients [7][8][9][10]. SAR1B gene is also responsible for the secretion of very low density lipoproteins from hepatocytes.…”

Section: Discussionmentioning

confidence: 99%

Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan

Kumar¹,

Nanjiani²,

Tahir³

et al. 2020

Cureus

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Chylomicron retention disease (CMRD), also known as Anderson's disease, is an autosomal recessive condition with a genetic mutation in the secretion associated Ras related GTPase 1B (SAR1B) gene, a protein coding gene. CMRD classically manifests as steatorrhea, vomiting, failure to thrive or abdominal bloating shortly after birth or in childhood. Here, we report a rare case of a 50-day-old male infant who was, at first, overseen as a case of acute gastroenteritis with sepsis owing to the non-specific symptoms i.e. multiple episodes of loose stools with a low-grade fever and failure to thrive, and was managed accordingly. However, the symptoms did not resolve; moreover, the clinical condition deteriorated. Later, lipid profile, clinical presentation and pathological features led to a presumptive diagnosis of CMRD. Our patient showed significant improvement when treated with a trial of medium-and short-chain fatty acids. We conclude that, in resource-restricted countries, a therapeutic trial with the dietary changes is essential to not only prevent the devastating complication but also support the diagnosis.

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Section: Discussionmentioning

confidence: 99%

Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan

Kumar¹,

Nanjiani²,

Tahir³

et al. 2020

Cureus

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“…As it was previously reported by Sassolas et al [ 5 ], until 2012, mutations in the SARB1B gene has been established in 43 patients, respective to 17 mutations. Since then, as far as we know, 5 new diagnosis were reported in the literature [ 6 7 8 9 ].…”

Section: Introductionmentioning

confidence: 99%

Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease

Ferreira

Ramos

Quan

et al. 2018

Pediatr Gastroenterol Hepatol Nutr

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Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.

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Genetic Regulation of Intestinal Lipid Transport and Metabolism

Davidson¹

2018

Physiology of the Gastrointestinal Tract

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Chylomicron retention disease: A rare cause of chronic diarrhea

Cited by 6 publications

References 6 publications

Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan

Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan

Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease

Genetic Regulation of Intestinal Lipid Transport and Metabolism

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