• M Josefa Cabrejas Núñez, Cristina Izquierdo Álvarez, Emiliano Gónzalez Vioque, Alejandro Almería Lafuente, and Ramona Ángeles Silvestre Mardomingo.
• Servicio de Bioquímica Clínica, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, Majadahonda, España.
• Med Clin (Barc). 2020 Apr 10; 154 (7): 275-278.

Introduction And ObjectivesCongenital analbuminaemia (CCA) (MIM #616000) is an autosomal recessive disorder (prevalence < 1/106) caused by defects in the ALB gene leading to absence or severe reduction of albuminaemia. This paper describes a case of CCA detected and diagnosed in our hospital.Materials And MethodsA 42-year old woman showing hypoproteinaemia and hypoalbuminaemia of unknown aetiology. Biochemical study was performed according to routine quality controlled analytical procedures: Albuminaemia (colorimetric and nephelometric methods). Protein electrophoresis (capillary and agarose gel). Molecular study of the ALB gene: DNA extraction, PCR amplification of the 14 coding exons plus adjacent intron regions and Sanger sequencing.ResultsAfter discarding the most common causes of hypoalbuminaemia, the analbuminaemia was confirmed by nephelometry and protein electrophoresis. The proband was found to be homozygous for molecular defect in the ALB gene: variant c.1289+1G>A previously reported as Guimarães variant.ConclusionsThis is the first case of CCA confirmed by molecular study in Spain. The proband shows the Guimarães variant previously described in 4 patients worldwide.Copyright © 2019 Elsevier España, S.L.U. All rights reserved.

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