Hipobetalipoproteinemia familiar ApoB específica en una paciente con hiperplasia suprarrenal congénita no clásica

  1. Beatriz Ramos Bachiller 1
  2. Manuel Luque-Ramírez 2
  3. Carmen Rodríguez-Jiménez 3
  4. Francisco J. Arrieta Blanco 4
  1. 1 Complejo Asistencial Universitario de León, Castilla-León, España
  2. 2 Hospital Universitario Ramón y Cajal, Madrid, España; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), CIBER de Diabetes y Enfermedades Metabólicas asociadas, y Universidad de Alcalá, Madrid, España
  3. 3 Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, España
  4. 4 Hospital Universitario Ramón y Cajal, Madrid, España; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, España
Erakutsi afiliazioak +
Aldizkaria:
Clínica e investigación en arteriosclerosis

ISSN: 0214-9168,  1578-1879

Argitalpen urtea: 2024

Alea: 36

Zenbakia: 3

Orrialdeak: 128-132

Mota: Artikulua

DOI: 10.1016/J.ARTERI.2023.12.002 DIALNET GOOGLE SCHOLAR lock_openSarbide irekia editor

Beste argitalpen batzuk: Clínica e investigación en arteriosclerosis

Garapen Iraunkorreko Helburuak

Laburpena

Familial hypobetalipoproteinaemia is a disorder of lipid metabolism characterized by low levels of total cholesterol, low-density lipoprotein cholesterol and apolipoprotein B. ApoBrelated 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-yearold 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.

Datuen iturria: Dialnet