sup] Dubin-Johnson syndrome (DJS, MIM #237500) is characterized by fluctuating mild, predominantly conjugated hyperbilirubinemia
and is caused by mutations in the ATP-binding cassette subfamily C member 2 gene ( ABCC2 ).
2 s) and a conjugated hyperbilirubinemia
(direct bilirubin, 0.
Keeping in mind his conjugated hyperbilirubinemia of the cholestatic type and persistent vomiting, HIDA scan was done, which showed normal uptake by liver but hepatobiliary tract and gall bladder were not visualized and there was no excretion of dye into the gut (Figure-1), suggestive of biliary atresia, however, the Ultrasound abdomen showed a well outlined gall bladder which made the diagnosis doubtful.
Neonatal cholestasis is defined as prolonged conjugated Hyperbilirubinemia, typically lasting more than two weeks6,7 and affects approximately 1 in 2500 births.
3,4) It is manifest exclusively during the neonatal period, in the first two to four weeks of life, with persistent jaundice due to a conjugated hyperbilirubinemia
and pale acholic stools.
However, the intensive regimen used in the neonatal intensive care unit (NICU) led to a significant increase, from 16% to 45%, in conjugated hyperbilirubinemia
Another rapid test for conjugated hyperbilirubinemia
is noting a yellow color to the foam of a shaken tube of urine; the challenge, of course, is in obtaining the sample (Berkowitz, 2000).
Early identification of conjugated hyperbilirubinemia
remains the first step toward the timely diagnosis of BA.
and posthepatic causes of jaundice, In general, LFT's do not correlate with disease severity and do not help with the diagnosis in this group of patients.
1) Although its cause is varied, extrahepatic biliary atresia (EHBA) or idiopathic neonatal hepatitis (NH) is seen in 60-90% of infants with conjugated hyperbilirubinemia
3%, and most had predominantly conjugated hyperbilirubinemia
(5) Especially noted is the elevation of alanine transaminase to more than three times the upper limit of normal value.
If jaundice persists beyond age 3 weeks, measurement of total and direct-reacting bilirubin is mandatory to distinguish pathologic conditions that cause conjugated hyperbilirubinemias
, usually resulting from obstruction or cholestasis (i.