| Autor: |
Tada H; Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan., Kojima N; Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan., Nomura A; Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan., Takamura M; Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan. |
| Jazyk: |
angličtina |
| Zdroj: |
Internal medicine (Tokyo, Japan) [Intern Med] 2024 Oct 01; Vol. 63 (19), pp. 2637-2640. Date of Electronic Publication: 2024 Feb 19. |
| DOI: |
10.2169/internalmedicine.3033-23 |
| Abstrakt: |
We herein report the first family of Japanese individuals with familial hypobetalipoproteinemia caused by the c.1468C>T mutation in apolipoprotein B (APOB). A 13-year-old boy with extremely low levels of low-density lipoprotein (LDL) cholesterol (24 mg/dL) was referred to our hospital. The patient had no secondary causes of hypobetalipoproteinemia. His father and grandmother also exhibited low LDL cholesterol levels. A genetic analysis confirmed that they all had this variant in APOB (c.1468C>T). None of the patients exhibited atherosclerotic cardiovascular diseases or any other complications associated with low LDL cholesterol levels, including fatty liver, neurocognitive disorders, and cerebral hemorrhaging. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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