Familial hypercholanemia-2 is a condition caused by mutations in the human solute carrier family 10 member 1

(SLC10A1) gene, which results in the inability to transport conjugated bile salts from plasma to hepatocytes. This is due

to the sodium taurocholate cotransport polypeptide encoded by the gene being affected. Although the gene was first

described in 1994, there is limited knowledge on the clinical features of the disease. In the few reported cases, both clinical

and laboratory findings have varied. We reported a twelve-year-old girl was diagnosed with familial hypercholanemia-2

through a whole gene exome sequencing study. She was brought in with asymptomatic hypertransaminasemia, and

after comprehensive studies on etiology failed to detect the cause, genetic testing was done. The patient had no

clinically abnormal findings but had hypercholanemia (bile acid level 81.9 μmol/L) (fasting < 10 μmol/L, postprandial <

15 μmol/L) and hypertransaminasemia in laboratory examinations.

It is believed that the disease can present with a wide range of phenotypes, and laboratory findings may differ between

patients depending on the underlying genetic mutation or mechanisms that have not yet been identified. Therefore, it is

recommended to expand diagnostic genetic examinations in patients with hypertransaminasemia whose cause cannot

be determined

Keywords: Bile acids and salts, cholestasis, hypercholanemia, Sodium taurocholate cotransporting polypeptide