Nail-Patella Syndrome (नेल-पैटेला सिंड्रोम / NPS) एक rare genetic disorder है जिसमें nails, knees (patella), elbows, और pelvis प्रभावित होते हैं।
- इसे hereditary osteo-onychodysplasia भी कहा जाता है।
- Autosomal dominant inheritance pattern में होता है।
- Mutation LMX1B gene में होता है।
- Condition में skeletal abnormalities, nail dysplasia और kidney involvement आम हैं।
Nail-Patella Syndrome क्या है (What is Nail-Patella Syndrome)
- Genetic disorder affecting bones, nails, and sometimes kidneys
- Classic tetrad:
- Nail abnormalities – absent, underdeveloped, or split nails
- Patellar (kneecap) abnormalities – small, absent, or dislocated patella
- Elbow anomalies – restricted motion, hypoplasia of radial head
- Iliac horns – bony projections on pelvis
- Kidney involvement: proteinuria or nephropathy in some cases
Nail-Patella Syndrome कारण (Causes of Nail-Patella Syndrome)
1. Genetic Mutation
- Mutation in LMX1B gene on chromosome 9
- Autosomal dominant inheritance: 50% chance of passing to offspring
2. Developmental Abnormalities
- Mutation affects limb, nail, and kidney development in utero
3. Family History
- Strong familial pattern; often multiple family members affected
Nail-Patella Syndrome लक्षण (Symptoms of Nail-Patella Syndrome)
Nail Abnormalities
- Absent, small, ridged, or split nails
- Most noticeable in thumbs and index fingers
Skeletal Abnormalities
- Small, absent, or dislocated patella
- Elbow malformations – limited extension, pronation-supination restriction
- Iliac horns visible on X-ray
Other Symptoms
- Proteinuria or kidney dysfunction (nephropathy)
- Joint pain or early osteoarthritis
- Rarely, glaucoma or eye issues
Symptoms vary widely; some individuals may be mildly affected।
Nail-Patella Syndrome कैसे पहचाने (Diagnosis of Nail-Patella Syndrome)
- Physical Examination – nail changes, patellar abnormalities, elbow range of motion
- X-ray / Imaging – detect patella abnormalities, iliac horns
- Genetic Testing – mutation in LMX1B gene
- Kidney Function Tests – urine protein, creatinine levels
- Family History – inheritance pattern analysis
Diagnosis is mainly clinical, supported by imaging and genetic tests।
Nail-Patella Syndrome इलाज (Treatment of Nail-Patella Syndrome)
1. Orthopedic Management
- Physical therapy for joint mobility
- Surgery for patellar dislocation or severe skeletal deformities
2. Kidney Management
- Regular monitoring of urine protein, renal function
- ACE inhibitors or ARBs in case of proteinuria
- Nephrologist consultation if kidney involvement
3. Symptom Relief
- Pain management – NSAIDs for joint pain
- Lifestyle modifications – avoid high-impact activities
4. Genetic Counseling
- Important for family planning
- Educate about inheritance risk
Early intervention can prevent joint complications and kidney damage।
रोकथाम (Prevention)
- Genetic counseling for at-risk families
- Early diagnosis in children with nail or patella abnormalities
- Monitor kidney function from childhood
- Physiotherapy to maintain joint function
सावधानियाँ (Precautions)
- Avoid high-impact activities that stress knees and elbows
- Regular check-ups for kidney function and blood pressure
- Prompt management of joint pain
- Eye check-up for glaucoma in adults
FAQs (अक्सर पूछे जाने वाले प्रश्न)
Q1. क्या Nail-Patella Syndrome इलाज योग्य है?
Genetic disorder को cure नहीं किया जा सकता, लेकिन symptoms और complications manage किए जा सकते हैं।
Q2. क्या यह बच्चों में ही दिखाई देता है?
Symptoms childhood या adolescence में दिखाई देते हैं, लेकिन severity varies।
Q3. Kidney involvement common है?
लगभग 30–40% cases में proteinuria या nephropathy हो सकती है।
Q4. Family members को genetic testing करनी चाहिए?
हाँ, especially यदि parents या siblings affected हों।
निष्कर्ष (Conclusion)
Nail-Patella Syndrome (नेल-पैटेला सिंड्रोम) एक rare genetic disorder है, जो nails, patella, elbows, pelvis और kidneys को प्रभावित करता है।
Early diagnosis, orthopedic management, kidney monitoring और genetic counseling से patients की quality of life बेहतर की जा सकती है।
अगर किसी बच्चे या परिवार में nail abnormalities, knee issues, या elbow deformities दिखें, तो तुरंत pediatrician या genetic specialist से consultation जरूरी है।