Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures - Takeaways - MDSpire

Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures

  • By

  • Asena Pinar Sefer

  • Melek Yorgun Altunbas

  • Baran Erman

  • Salim Can

  • Alper Bulutoglu

  • Satanay Hubrack

  • Katherine Ford

  • Melanie Makhlouf

  • Luis R. Saraiva

  • Gizem Onder

  • Ozden Hatirnaz

  • Ayse Merve Usta

  • Dilek Guller

  • Dilek Baser

  • Gamze Akgun

  • Umran Aba

  • Rahmi Kutay Erdogan

  • Omer Faruk Beser

  • Fugen Cullu Cokugras

  • Fatma Demirbas Ar

  • Nafiye Urganci

  • Oguz Salih Dincer

  • Sevgi Bilgic Eltan

  • Safa Baris

  • Elif Karakoc-Aydiner

  • Bernice Lo

  • Ahmet Ozen

  • June 2, 2026

  • 0 min

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  • 1

    Congenital analbuminemia (CAA) is a rare autosomal recessive disorder caused by pathogenic variants in the ALB gene, leading to severe hypoalbuminemia.

  • 2

    Pediatric patients with CAA exhibit multisystem manifestations, including edema, gastrointestinal issues, recurrent infections, and dyslipidemia.

  • 3

    Genetic testing identified specific mutations in the ALB gene among the studied children, confirming the diagnosis of CAA.

  • 4

    Coagulation profiling revealed a prothrombotic signature in CAA patients, with one case resulting in life-threatening cerebral thrombosis.

  • 5

    This study emphasizes the need for early molecular diagnosis of CAA to prevent misdiagnosis and facilitate tailored monitoring for complications.

Original Source(s)

Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures

  • by Asena Pinar Sefer, Melek Yorgun Altunbas, Baran Erman, Salim Can, Alper Bulutoglu, Satanay Hubrack, Katherine Ford, Melanie Makhlouf, Luis R. Saraiva, Gizem Onder, Ozden Hatirnaz, Ayse Merve Usta, Dilek Guller, Dilek Baser, Gamze Akgun, Umran Aba, Rahmi Kutay Erdogan, Omer Faruk Beser, Fugen Cullu Cokugras, Fatma Demirbas Ar, Nafiye Urganci, Oguz Salih Dincer, Sevgi Bilgic Eltan, Safa Baris, Elif Karakoc-Aydiner, Bernice Lo, Ahmet Ozen

  • June 2, 2026

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