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

To refine the characterization of pediatric congenital analbuminemia (CAA) and provide insights into its clinical relevance concerning albumin deficiency, vascular risk, and immune homeostasis.

Key Findings:
  • All patients exhibited persistent hypoalbuminemia, early-onset edema, gastrointestinal morbidity, antenatal complications, recurrent respiratory infections, and dyslipidemia.
  • Genetic testing identified an ALB splice-site mutation in one kindred and a novel homozygous frameshift insertion in the other.
  • Coagulation profiling revealed a prothrombotic signature, including elevated fibrinogen and D-dimer levels, and increased FXI activity, with one patient experiencing life-threatening cerebral thrombosis.
  • Immunological evaluation showed preserved leukocyte counts, variable vaccine responses, and skewing of CD4⁺ T cells toward effector memory subsets, indicating immune dysregulation.
Interpretation:

The findings suggest that CAA may present with significant multisystem manifestations beyond isolated hypoalbuminemia, including gastrointestinal, metabolic, infectious, and hemostatic issues, which have important implications for clinical management.

Limitations:
  • The study involved a small cohort of only five patients, which may introduce biases.
  • Further multicenter studies with larger sample sizes are needed for validation.
Conclusion:

Early molecular diagnosis of CAA may help reduce unnecessary invasive investigations and enable individualized monitoring for complications, highlighting the need for further research to confirm these findings.

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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