NORMAL
NORMAL
ABNORMAL
INCREASED
MONITORING
CHOLANGIO-
GRAM
CHOLANGIO-
GRAM
SERUM GGT
Cholestasis
and / or
cholestatic jaundice
abdominal
ultrasound :
bile ducts
dilated ?
biliary
obstruction
on liver
biopsy
Pruritus
Increased
serum total
bile acids
and
YES
YES
YES
NO
NO
NO
Biliary lithiasis
Other extrahepatic
causes
Choledochal cysts
Primary bile acid
synthesis disorders
(3β-HSD and Δ4–3-oxoR
deficiencies)
PFIC 3
Autoimmune cholangitis
Biliary atresia
Primary sclerosing
cholangitis
Check for :
Check for :
Extrahepatic causes :
Check for :
Check for :
PFIC1
PFIC2
BRIC1
BRIC2
TJP2 deficiency (PFIC4)
NR1H4 deficiency (PFIC5)
Myosin 5B deficiency
UNC45A deficiency
ARC syndrome
Hepatitis A
Alagille syndrome
Alpha-1-antitrypsin deficiency
Cystic fibrosis
Drug toxicity
Cortisol deficiency
NORMAL
NORMAL
ABNORMAL
INCREASED
MONITORING
Prurits
SERUM GGT
Cholestasis
AND / OR
cholestatic jaundice
abdominal
ultrasound :
bile ducts
dilated ?
biliary
obstruction
on liver
biopsy
YES
YES
YES
NO
NO
NO
CHOLANGIO-
GRAM
CHOLANGIO-
GRAM
Increased
serum total
bile acids
and
Biliary lithiasis
Other extrahepatic
causes
Choledochal cysts
Extrahepatic causes :
Check for :
Check for :
Alagille syndrome
Alpha-1-antitrypsin
deficiency
Cystic fibrosis
Drug toxicity
PFIC1
PFIC2
BRIC1
BRIC2
TJP2 deficiency (PFIC4)
NR1H4 deficiency (PFIC5)
Myosin 5B deficiency
UNC45A
deficiency
ARC syndrome
Hepatitis A
PFIC 3
Autoimmune cholangitis
Check for :
Biliary atresia
Primary sclerosing
cholangitis
Check for :
Primary bile acid
synthesis disorders
(3β-HSD and Δ4–3-oxoR
deficiencies)
Cortisol deficiency
1. Adapted from, Protocole national de diagnostic et de soins : Déficits de synthèse des acides biliaires primaires. In: Génétiques CdRCdlAdVBedC, ed., 2019
2. Fawaz R, Baumann U, Ekong U, et al. Guideline for the evaluation of cholestatic jaundice in infants: joint recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr 2017;64(1):154-68. doi: 10.1097/MPG.0000000000001334
Under conjonction and advices of experts in paediatric gastroenterologisy and hepatology
CTRS-INSTIT-PLATEDUC-ONG04/20/07/20
