Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
;
: 134-140, 2018.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Vitaminas
/
Vômito
/
Progressão da Doença
/
Doenças Raras
/
Esteatorreia
/
Desnutrição
/
Diagnóstico
/
Diarreia
/
Dieta
/
Insuficiência de Crescimento
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
Pediatric Gastroenterology, Hepatology & Nutrition
Ano de publicação:
2018
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS