| Autor: |
Yusuke MISHIMA, Kota TSURUYA, Yosuke TAZAWA, Yoshitaka ARASE, Shunji HIROSE, Koichi SHIRAISHI, Masayuki TANAKA, Sanae ISAKI, Tsuneo KITAMURA, Tatehiro KAGAWA |
| Předmět: |
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| Zdroj: |
Tokai Journal of Experimental & Clinical Medicine; Sep2024, Vol. 49 Issue 3, p133-136, 4p |
| Abstrakt: |
Abnormalities in MYO5B, which encodes an unconventional myosin Vb, not only cause microvillus inclusion disease but also cholestatic liver disease, including benign recurrent intrahepatic cholestasis (BRIC). However, MYO5B-related cholestasis has not yet been reported in Japan. In this study, we present the case of a female patient in her thirties, who had developed jaundice, without diarrhea, in the first year after birth. The jaundice spontaneously subsided and occasionally recurred. Whole-exome sequencing identified two pathogenic variants in MYO5B: a nonsense mutation (c. G1124A: p. W375X) and a missense mutation (c.C2470T: p.R824C). Therefore, the patient was diagnosed with MYO5B-associated BRIC. This is the first reported case of cholestasis with a defined MYO5B defect in Japan. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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