Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease
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Chylomicron retention disease, also known as Anderson’s disease, is a rare hereditary hypocholesterolemic dis-order, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomit-ing 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 de-scribed [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 irrever-sible and desvantating complications.
Abstract
Chylomicron retention disease, also known as Anderson’s disease, is a rare hereditary hypocholesterolemic dis-order, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomit-ing 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 de-scribed [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 irrever-sible and desvantating complications.
참고문헌 (11)
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