skin and eyes turning yellow - proteus

[ArchivalUser]

A 15-year-old Iranian Jewish teenager presents to clinic with a 4-day history of his skin and eyes turning yellow. Liver function tests are shown below:

ALT 26 U/L
AST 29 U/L
Alkaline Phosphatase 138 U/L
Bilirubin, Total 8 mg/dL
Bilirubin, Direct 7.5 mg/dL
A urine analysis shows a normal coproporphyrin level. The coproporphyrin I to coproporphyrin III ratio is significantly increased. What is the most likely diagnosis?


A. Dubin-Johnson syndrome
B. Rotor syndrome
C. Gilbert's syndrome
D. Crigler-Nijjar Type I
E. Crigler-Nijjar Type II

[ArchivalUser]

AA

[ArchivalUser]

AA agree

I have my way to remmember which one has high Bilirubin, Direct :

DR Dubin is direct:

D=Dubin-Johnson syndrome

R= Rotor syndrome

the diff between those two: http://en.wikipedia.org/wiki/Rotor_syndrome

the others are indirect.

[ArchivalUser]

Choice (A) is the correct answer. Dubin-Johnson syndrome is an autosomal recessive disease characterized by a mild conjugated hyperbilirubinemia. There is a defect in biliary excretion. Normally, coproporphyrin I is excreted in bile, and coproporphyrin III in excreted in the urine. In Dubin-Johnson syndrome, there is an increased ratio of coproporphyrin I to coproporphyrin III in the urine. There is a higher incidence of Dubin-Johnson syndrome among Iranian Jews. The condition is benign, and no treatment is needed. Rotor syndrome (Choice B) is also a benign conjugated hyperbilirubinemia. However, in Rotor syndrome, urinalysis shows a significant increase in total coproporphyrins, with the majority of the coproporphyrins being coproporphyrin I. This is in contrast to Dubin Johnson syndrome where total coproporphyrin levels are normal, but coproporphyrin I levels are increased. Gilbert's syndrome (Choice C), Crigler-Najjar Type I (Choice D), and Crigler-Najjar Type II (Choice E) are all unconjugated hyperbilirubinemias.