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Incidental detection of hereditary bisalbuminemia in a patient with positive DAT coombs: A case-based review.
Metabol Open
September 2024
Department of Biological Chemistry, Medical School, National and Kapodistrian University of Athens, 11527, Athens, Greece.
Bisalbuminemia is a rare, typically benign condition marked by the presence of a bifid albumin band on serum protein electrophoresis. It can either be inherited due to a point mutation or acquired in association with various medical conditions, most commonly diabetes mellitus. Bisalbuminuria, the presence of bifid albumin in urine, may or may not accompany bisalbuminemia.
View Article and Find Full Text PDFCongenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis.
Ann Biol Clin (Paris)
May 2023
Biochemistry Department, Military Hospital of Tunis, Monfleury, 1008, Tunis, Tunisia.
Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed by mutation analysis of the albumin gene in a 35-year-old man presenting recurrent acute coronary syndrome. To the best of our knowledge, only two cases of coronary artery disease have been reported worldwide without recurrence.
View Article and Find Full Text PDFCongenital analbuminaemia: A case report.
J Pak Med Assoc
April 2023
Department of Internal Medicine, National Hospital and Medical Center, Lahore, Pakistan.
Congenital analbuminaemia (CAA) is a rare autosomal recessive disorder in which affected individuals have absent or extremely low levels of serum albumin. Adults with this condition are mostly asymptomatic. To the best of our knowledge this is the first case of congenital analbuminaemia reported in Pakistan.
View Article and Find Full Text PDFAlterations in the Plasma Protein Expression Pattern in Congenital Analbuminemia-A Systematic Review.
Biomolecules
February 2023
Department of Nutrition Science, Purdue University, West Lafayette, IN 47907, USA.
Albumin is a highly abundant plasma protein with multiple functions, including the balance of fluid between body compartments and fatty acid trafficking. Humans with congenital analbuminemia (CAA) do not express albumin due to homozygosity for albumin gene mutation. Lessons about physiological control could be learned from CAA.
View Article and Find Full Text PDFSevere hypercholesterolemia in a patient with very low albumin and normal renal function.
J Clin Lipidol
February 2023
Department of Medicine, Baylor College of Medicine, Houston, TX, United States. Electronic address:
A 20-year-old male presented with severe elevation in low-density lipoprotein cholesterol (LDL-C). Initial genetic testing for familial hypercholesterolemia was negative. Patient also had low albumin, and further genetic testing showed homozygous variants in the ALB gene, suggesting congenital analbuminemia (CAA) causing severe hyperlipidemia.
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