Detection and molecular diagnosis of a new case of congenital analbuminaemia. / Detección y diagnóstico molecular de un nuevo caso de analbuminemia congénita.
Med Clin (Barc)
; 154(7): 275-278, 2020 04 10.
Article
en En, Es
| MEDLINE
| ID: mdl-31928748
ABSTRACT
INTRODUCTION AND OBJECTIVES:
Congenital 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 ANDMETHODS:
A 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.RESULTS:
After 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.CONCLUSIONS:
This is the first case of CCA confirmed by molecular study in Spain. The proband shows the Guimarães variant previously described in 4 patients worldwide.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hipoalbuminemia
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
País/Región como asunto:
Europa
Idioma:
En
/
Es
Revista:
Med Clin (Barc)
Año:
2020
Tipo del documento:
Article