Intermittent Cholestasis as a Clinical Manifestation of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1) Deficiency

The liver uptake of bile salts is accomplished in sodium-independent and sodiumdependent manners. The Na+-taurocholate cotransporting polypeptide SLC10A1 (NTCP) plays a key role in the enterohepatic circulation of bile salts. The identification of NTCP deficiency confirms that this transporter is the main import system for conjugated bile salts into the liver but also indicates that auxiliary transporters are able to sustain the enterohepatic cycle in its absence. NTCP deficiency has been described as new inborn error of metabolism with a relatively mild clinical phenotype. It is also a cause of hypercholanemia and cholestasis in children. Although NTCP was cloned as early as in 1994 and its function has been studied extensively, clinical description of NTCP deficiency remains rather limited thus far. The patient suffers from intermittent cholestasis and no signs of liver dysfunction despite transaminitis. Pruritus was present only in cholestasis episodes. A homozygous point mutation was found in the SLC10A1 gene resulting in a truncated protein. We present the first adult latin american patient with a defect in NTCP.