[MIM 237 500]

(hyperbilirubinemia type 2, Dubin-Sprinz syndrome, Sprinz-Nelson syndrome)

Very rare: more common in Jewish people from Iran, Iraq or Morocco. Mild condition. Autosomal recessive transmission of a mutation of the ABCC2 gene (ATP-Binding Cassette, C subfamily (CFTR/MRP), member 2) (10q24). This mutation causes the absence or abnormality of the canalicular transporter of the bilirubin (and of the organic anions). This transporter is referred to as CMOAT (Canalicular Multispecific Organic Anion Transporter 1) or 2MRP (Multidrug Resistance associated Protein 2).

Chronic jaundice with conjugated bilirubin by deficit of the secretion of bilirubin, with normal liver enzymes. Dark urines. (excretion of very large amounts of coproporphyrine). No risk of cirrhosis.

A factor VII deficiency is sometimes associated.

Biopsy: typical dark brown pigmentary deposit in the cytosol of the hepatocytes, especially in the centrolobular areas.

Anesthetic implications: 

check hemostasis (F VII); otherwise no special precautions are needed

Updated: August 2019