Myelokathexis (मायलोकेथिक्स) एक rare congenital immunodeficiency disorder है जिसमें neutrophils (एक प्रकार की सफेद रक्त कोशिकाएँ) का bone marrow में abnormal retention होता है।
- इसका मतलब है कि neutrophils peripheral blood में कम रहते हैं, जिससे recurrent infections होते हैं।
- यह disorder अक्सर WHIM syndrome (Warts, Hypogammaglobulinemia, Infections, Myelokathexis) के context में देखा जाता है।
- First described in association with neutropenia and bone marrow hyperplasia।
Myelokathexis क्या है (What is Myelokathexis)
- Neutropenia due to retention of mature neutrophils in bone marrow
- Leads to chronic or recurrent bacterial infections
- Often associated with WHIM syndrome
- Genetic cause: mutations in CXCR4 gene (autosomal dominant)
Myelokathexis कारण (Causes of Myelokathexis)
1. Genetic Mutation
- CXCR4 gain-of-function mutation leads to abnormal neutrophil trafficking
- Inherited in autosomal dominant pattern
2. Congenital Immune Deficiency
- Bone marrow hypercellularity with neutrophil retention
- Impaired immune response to bacterial and viral infections
3. Associated Syndromes
- WHIM syndrome (warts, hypogammaglobulinemia, infections, myelokathexis)
Myelokathexis लक्षण (Symptoms of Myelokathexis)
- Recurrent bacterial infections (skin, respiratory tract)
- Chronic neutropenia
- Delayed healing of wounds
- May have warts (HPV infection) in WHIM syndrome
- Growth delay or failure to thrive in children
- Occasional oral ulcers
Symptoms severity depends on neutrophil count and associated immune deficiency।
Myelokathexis कैसे पहचाने (Diagnosis of Myelokathexis)
- Complete Blood Count (CBC) – persistent neutropenia
- Peripheral Blood Smear – neutrophils abnormal morphology
- Bone Marrow Biopsy – hypercellularity with retained mature neutrophils
- Genetic Testing – CXCR4 mutations confirm diagnosis
- Immunoglobulin Levels – to detect associated hypogammaglobulinemia
Early diagnosis important to prevent severe infections।
Myelokathexis इलाज (Treatment of Myelokathexis)
1. Infection Management
- Prompt antibiotics for bacterial infections
- Antiviral treatment if viral infections present
2. Immune Support
- Granulocyte Colony Stimulating Factor (G-CSF / Filgrastim) – increases neutrophil count
- Immunoglobulin therapy if hypogammaglobulinemia present
3. Supportive Care
- Good hygiene
- Prompt treatment of wounds and skin infections
- Regular monitoring of CBC
4. Experimental / Advanced Therapies
- Hematopoietic stem cell transplantation in severe cases
- Targeted therapy in research stage for CXCR4 pathway modulation
Early intervention reduces infection frequency and severity।
रोकथाम (Prevention)
- Genetic counseling in affected families
- Early detection of infections
- Maintaining hygiene and safe environment
- Regular immunological monitoring
सावधानियाँ (Precautions)
- Avoid exposure to infected individuals
- Immediate treatment for fever, cough, or skin infection
- Regular follow-up with hematologist / immunologist
- Vaccination according to immune status
FAQs (अक्सर पूछे जाने वाले प्रश्न)
Q1. Myelokathexis hereditary है?
हाँ, अक्सर autosomal dominant CXCR4 mutation के कारण।
Q2. क्या यह गंभीर है?
Untreated cases में life-threatening infections हो सकते हैं।
Q3. बच्चों में कैसे पहचानें?
Recurrent bacterial infections, slow healing, neutropenia detected in blood tests।
Q4. क्या इसका इलाज संभव है?
हाँ, G-CSF therapy, immunoglobulin replacement और infection management से अच्छी quality of life possible है।
निष्कर्ष (Conclusion)
Myelokathexis (मायलोकेथिक्स) एक rare congenital immunodeficiency है जिसमें neutrophils का bone marrow में retention और peripheral neutropenia होती है।
Early diagnosis, G-CSF therapy, infection management और regular monitoring से complications को prevent करना और जीवन की गुणवत्ता बढ़ाना संभव है।
अगर किसी बच्चे या व्यक्ति को recurrent infections, delayed wound healing या neutropenia दिखे, तो तुरंत hematologist या immunologist से consultation जरूरी है।