DGAT1 mutations leading to delayed chronic diarrhoea: a case report.
BMC Med Genet
; 21(1): 239, 2020 12 01.
Article
in En
| MEDLINE
| ID: mdl-33261563
ABSTRACT
BACKGROUND:
Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases of DGAT1 deficiency have been reported. Diarrhoea in those cases was severe and developed in the neonatal period or within 2 months after birth. CASE PRESENTATION Here, we report a female patient with DGAT1 mutations with delayed-onset chronic diarrhoea. The patient had vomiting, hypoalbuminemia, hypertriglyceridemia, and failure to thrive at early infancy. Her intractable chronic diarrhoea occurred until she was 8 months of age. A compound heterozygous DGAT1 mutation was found in the patient, which was first found in the Chinese population. Her symptoms and nutrition status improved after nutritional therapy, including a fat restriction diet.CONCLUSIONS:
This case expanded our knowledge of the clinical features of patients with DGAT1 mutations. Intractable diarrhoea with delayed onset could also be a congenital disorder.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Vomiting
/
Hypertriglyceridemia
/
Hypoalbuminemia
/
Diarrhea
/
Diacylglycerol O-Acyltransferase
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Failure to Thrive
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Mutation
Limits:
Female
/
Humans
/
Infant
Language:
En
Journal:
BMC Med Genet
Journal subject:
GENETICA MEDICA
Year:
2020
Document type:
Article