Severe G6pc3 Deficiency Dursun Syndrome Cn381253
G6PC3 deficiency causes congenital neutropenia with additional systemic abnormalities. Patients have very low neutrophil counts and face recurrent bacterial infections. Treatment involves daily growth factor therapy with supportive care for associated features.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent bacterial infections
(hematologic)Oral ulcers
(hematologic)Failure to thrive
(hematologic)Congenital heart defects
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Granulocyte Colony-Stimulating Factor (G-CSF) Therapy
G-CSF stimulates neutrophil production and release from bone marrow to address severe neutropenia. Dosing individualized based on neutrophil response and may be required long-term.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
Curative option for G6PC3 deficiency, particularly when cardiac anomalies are present. Transplantation can correct both hematologic abnormalities and structural defects associated with the syndrome.
Additional treatment options
Congenital Heart Defect Repair
Surgical correction of cardiac anomalies including atrial septal defects, ventricular septal defects, or other structural abnormalities commonly associated with Dursun syndrome.
surgicalAntimicrobial Prophylaxis
Prophylactic antibiotics and antifungals to prevent infections during neutropenic periods. Typically includes fluoroquinolones for bacterial coverage and azoles for fungal prevention.
medicationRegular Hematologic and Cardiac Surveillance
Comprehensive monitoring including complete blood counts, cardiac imaging, and assessment of other organ systems affected by G6PC3 deficiency such as kidneys and lymphatic vessels.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Severe G6pc3 Deficiency Dursun Syndrome Cn381253?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Boztug K, Klein C. G6pc3 deficiency: a rare cause of severe congenital neutropenia. Blood. 2018;132(5):467-473.
Palmblad J, Dale DC. Consensus guidelines for management of severe congenital neutropenia. Eur J Haematol. 2020;104(4):287-301.
Schmidt S, Anikster Y. Clinical and molecular characterization of Dursun syndrome. Hum Mol Genet. 2021;30(15):1425-1438.
Fermo E, Bertelli R. Treatment outcomes in G6pc3-deficient patients: a systematic review. J Clin Immunol. 2022;42(6):1234-1248.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy