Familial ApoB-specific familial hypobetalipoproteinemia in a patient with non-classical congenital adrenal hyperplasia. / Hipobetalipoproteinemia familiar ApoB específica en una paciente con hiperplasia suprarrenal congénita no clásica.
Clin Investig Arterioscler
; 36(3): 128-132, 2024.
Article
en En, Es
| MEDLINE
| ID: mdl-38195282
ABSTRACT
Familial hypobetalipoproteinaemia is a disorder of lipid metabolism characterized by low levels of total cholesterol, low-density lipoprotein cholesterol and apolipoprotein B. ApoB-related familial hypolipoproteinemia is an autosomal condition with a codominance inheritance pattern. Non-classical congenital adrenal hyperplasia is an autosomal recessive disorder due to mutations in the CYP21A2, a gene encoding for the enzyme 21-hydroxylase, which results in an androgen excess production from adrenal source. We here present the case of a 25-year-old woman with NCAH showing decreased levels of total-cholesterol, low-density lipoprotein cholesterol and triglycerides. Her parent had digestive symptoms and severe hepatic steatosis with elevated liver enzymes, as well as decreased levels of total and low-density lipoprotein cholesterol. A genetic-molecular study of the proband identified a mutation in the APOB gene, which allowed a diagnosis of heterozygous ApoB-related hypolipoproteinaemia to be made.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Apolipoproteínas B
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Hiperplasia Suprarrenal Congénita
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Hipobetalipoproteinemia Familiar por Apolipoproteína B
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LDL-Colesterol
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Mutación
Límite:
Adult
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Female
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Humans
Idioma:
En
/
Es
Año:
2024
Tipo del documento:
Article