Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
;
: 134-140, 2018.
Article
in English
| WPRIM
| ID: wpr-714240
ABSTRACT
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Vitamins
/
Vomiting
/
Disease Progression
/
Rare Diseases
/
Steatorrhea
/
Malnutrition
/
Diagnosis
/
Diarrhea
/
Diet
/
Failure to Thrive
Type of study:
Diagnostic study
Limits:
Humans
Language:
English
Journal:
Pediatric Gastroenterology, Hepatology & Nutrition
Year:
2018
Type:
Article
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