From: DGAT1 mutations leading to delayed chronic diarrhoea: a case report
Patient | Descent | Onset age | Features | Nutrition support | Other Treatment | Outcome |
---|---|---|---|---|---|---|
Patient 1 [4] | Ashkenazi Jewish | 0.1 month | vomiting, diarrhoea, malnutrition, hypertriglyceridemia, hypoalbuminemia | TPN, gastrostomy tube feeding with amino acid-based formula | albumin infusion | died |
Patient 2 [4] | Ashkenazi Jewish | 0.1 month | diarrhoea, hypertriglyceridemia, hypoalbuminemia | TPN and amino acid-based formula feeding | albumin infusion, cholestyramin | thrived at 46 months of age on an unrestricted diet |
Patient 3 [5] | Arab-Muslim | 2 months | diarrhoea, extremity edema, cachectic with FTT, hypertriglyceridemia, hypoalbuminemia | amino acid-based formula feeding, later with PN and Monogen formula | albumin and IVIG infusion, metronidazole infusion | discharged home without diarrhoea |
Patient 4 [5] | Arab-Muslim | NM | diarrhoea, edema, weight loss and skin abscesses | NM | NM | died |
Patient 5 [5] | Ashkenazi Jewish | 0.27 months | diarrhoea, FTT, edema, hypotonia | TPN and amino acid-based formula feeding | chicken soup formula mixed with rice water and ORS | improved on a regular diet except for dairy products |
Patient 6 [5] | Ashkenazi Jewish | sooner after birth | diarrhoea, hypertriglyceridemia | TPN | chicken soup formula mixed with rice water and ORS | maintained his weight albumin on enteral feeding |
Patient 7 [5] | NM | NM | NM | NM | NM | NM |
Patient 8 [5] | NM | NM | NM | NM | NM | NM |
Patient 9 [6] | South Asian | shortly after birth | diarrhoea, FTT, hypertriglyceridemia | PN, gastrostomy tube feeding with a hydrolyzed formula | blood cell transfusion, IVIG | transitioned to a diet containing no more than 10% calories from fat |
Patient 10 [6] | South Asian | shortly after birth | diarrhoea | NM | NM | improved on a very low fat enteral diet. |
Patient 11 [7] | Turkish | birth | vomiting, diarrhoea, FTT, hypoalbuminemia | Fat-free fomula and MCT | albumin infusion | no diarrhoea and normal growth with low-fat diet +MCT + fat-free formula |
Patient 12 [7] | Turkish | birth | vomiting, diarrhoea, FTT, hypoalbuminemia | NM | albumin infusion | died |
Patient 13 [7] | Turkish | 0.75 months | vomiting, diarrhoea, FTT, hypertriglyceridemia, hypoalbuminemia | TPN | albumin infusion | diarrhoea improved with basic formula feeding |
Patient 14 [7] | Turkish | 2 months | vomiting, diarrhoea, FTT, hypoalbuminemia | NM | cholestyramine | diarrhoea improved |
Patient 15 [7] | Turkish | 1.3 months | vomiting, diarrhoea, FTT, hypoalbuminemia | hydrolyzed formula | Creon pancreatic lipase | diarrhoea improved but remained malnutrition |
Patient 16 [7] | Turkish | 2.5 months | vomiting, diarrhoea, FTT | NM | Creon pancreatic lipase | diarrhoea improved |
Patient 17 [7] | Caucasian | 1 month | vomiting | infusion of Intralipid and Omegaven suppletion of lipid soluble vitamins | NM | enteral feeding without fat |
Patient 18 [7] | Caucasian | 1 month | vomiting, FTT | infusion of Intralipid and Omegaven suppletion of lipid soluble vitamins | NM | enteral feeding without fat |
Patient 19 [7] | Caucasian | birth | vomiting, diarrhoea, FTT, hypoalbuminemia | TPN | small bowel transplantation | still stunted |
Patient 20 [7] | Caucasian | birth | vomiting, diarrhoea, FTT, hypoalbuminemia | TPN, fat-free formula | NM | still stunted |
Patient 21 [8] | Caucasian | 1 month | vomiting, diarrhoea, malnutrition, hypoalbuminemia | TPN, nasojejunal tube feeding with amino acid-based formula | antibiotics | improved on a low-fat diet |
Patient 22 [14] | Chinese | birth | vomiting, watery diarrhoea | TPN | albumin and IVIG infusion | died |
Patient 23 [14] | Chinese | birth | edema,watery diarrhoea | TPN, enteral nutrition | albumin and IVIG infusion | died |