Multicentric Carpotarsal Osteolysis (MCOT) एक rare genetic skeletal disorder है जिसमें hands (carpal) और feet (tarsal) की हड्डियाँ धीरे-धीरे नष्ट (osteolysis) होती हैं।
- यह disorder आमतौर पर childhood या adolescence में दिखाई देता है।
- Bones gradually weaken और joint deformities, pain, और restricted mobility का कारण बनते हैं।
- Rare cases में kidney involvement (nephropathy) भी देखा गया है।
- MCOT autosomal dominant या recessive inheritance pattern के साथ हो सकता है।
Multicentric Carpotarsal Osteolysis क्या है (What is MCOT)
- Progressive bone loss in multiple carpal (wrist) और tarsal (ankle) bones
- Leads to joint pain, deformities, limited range of motion
- Histologically, osteolysis and bone resorption दिखाई देती है
- Rare genetic mutation (MMP2 gene या other collagen-related genes) implicated
Multicentric Carpotarsal Osteolysis कारण (Causes of MCOT)
1. Genetic Mutation
- Mutations in MMP2, MMP14, or other collagen-related genes
- Autosomal dominant/recessive inheritance
2. Abnormal Bone Remodeling
- Increased osteoclast activity or defective osteoblast function
- Leads to progressive bone resorption
3. Secondary Factors
- Rarely associated with renal disease
- Environmental triggers not clearly established
Multicentric Carpotarsal Osteolysis लक्षण (Symptoms of MCOT)
- Progressive pain and swelling in wrists and ankles
- Joint deformities – shortening or misalignment of fingers/toes
- Limited range of motion in affected joints
- Sometimes kidney involvement – proteinuria or hypertension
- Growth retardation in severe cases
- Rarely, bone fractures due to weakened structure
Symptoms usually begin in childhood and gradually progress।
Multicentric Carpotarsal Osteolysis कैसे पहचाने (Diagnosis of MCOT)
- Clinical Examination – joint pain, deformity, reduced mobility
- X-ray / Radiography – shows osteolysis of carpal and tarsal bones
- MRI / CT scan – assesses joint and soft tissue involvement
- Genetic Testing – confirms MMP2 or related gene mutation
- Kidney Function Tests – rule out nephropathy
Early diagnosis important for joint preservation and symptom management।
Multicentric Carpotarsal Osteolysis इलाज (Treatment of MCOT)
1. Symptomatic Management
- Pain relief: NSAIDs or analgesics
- Physical therapy to maintain joint mobility
- Orthotic support for affected joints
2. Surgical Intervention
- Joint stabilization or reconstructive surgery in severe deformities
- Rarely, joint replacement if extreme functional loss
3. Monitoring and Supportive Care
- Regular follow-up with orthopedist and nephrologist
- Monitor bone density, joint function, and kidney health
4. Experimental / Genetic Therapy
- Research ongoing in gene-targeted therapy and osteoclast inhibitors
Treatment primarily focuses on pain management, joint function, and preventing complications।
रोकथाम (Prevention)
- Genetic counseling for affected families
- Early detection through pediatric orthopedic evaluation
- Avoid high-impact activities that stress weakened bones
- Regular monitoring for kidney involvement
सावधानियाँ (Precautions)
- Protect joints from trauma
- Follow physiotherapy and rehabilitation exercises
- Regular orthopedic and nephrology follow-up
- Prompt treatment of any joint pain or swelling
FAQs (अक्सर पूछे जाने वाले प्रश्न)
Q1. क्या MCOT cure हो सकता है?
फिलहाल कोई cure नहीं है। Treatment symptomatic and supportive है।
Q2. क्या यह genetic है?
हाँ, यह rare autosomal dominant या recessive disorder है।
Q3. क्या यह बच्चों में जल्दी पता चल सकता है?
हाँ, childhood में joint pain, swelling और deformity से संकेत मिलता है।
Q4. क्या kidney involvement हमेशा होता है?
नहीं, kidney involvement rare है, लेकिन regular screening जरूरी है।
निष्कर्ष (Conclusion)
Multicentric Carpotarsal Osteolysis (MCOT) एक rare genetic skeletal disorder है, जो wrist और ankle bones में progressive osteolysis का कारण बनती है।
Early diagnosis, symptomatic management, physiotherapy, और genetic counseling से joint function और quality of life को बेहतर बनाया जा सकता है।
अगर किसी बच्चे में joint pain, swelling, deformity या limited mobility दिखाई दे, तो तुरंत pediatric orthopedist या geneticist से consultation करना चाहिए।