Abstract

Nail Patella Syndrome: An Unsound Autosomal Disorder

Nail Patella Syndrome (NPS) is an autosomal dominant condition affecting the nails, skeletal system, kidneys, eyes etc. kidney problems may lead to glaucoma. This is due to alternation of mutation of gene LMX1B at 9q34. This disease will be transferred from one generation to the other generation. This is a very rare disease and can be diagnosed by genetic testing and x-ray images. Treatment includes renal transplantation, joint replacement, orthopedic surgery etc. this can be prevented by taking regular checkup for genetic concerns from the doctor. The present article deals with the symptoms, causes, epidemiology, pathophysiology, diagnosis, treatment and prevention of nail patella syndrome.


Author(s):

Supriya K, Pallavi K, Durga DK and Srinivasa Babu P



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