Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures - Scorecard - 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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Clinical Scorecard: Genomic Assessment and Comprehensive Phenotyping of Pediatric Congenital Analbuminemia: Clinical, Coagulation, and Immune Profiles

At a Glance

CategoryDetail
Condition
Key Mechanisms
Target PopulationFive pediatric patients with genetically confirmed CAA.
Care Setting

Key Highlights

  • Genetic testing revealed specific ALB gene mutations.

Guideline-Based Recommendations

Diagnosis

    Management

    • Individualized monitoring for infectious and thrombotic complications is recommended.
    • Genetic counseling for affected families is advised.

    Monitoring & Follow-up

      Risks

        Patient & Prescribing Data

        Comprehensive evaluations excluded renal protein loss and hepatic dysfunction; management strategies included monitoring and supportive care.

        Clinical Best Practices

        • Utilize trio whole-genome sequencing for diagnosis.
        • Conduct thorough clinical evaluations to differentiate from other causes of hypoalbuminemia.
        • Implement coagulation and immunological profiling in management.
        • Encourage interdisciplinary care for comprehensive management of complications.

        Related Resources & Content

        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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