Nail Patella Syndrome

Introduction

Nail Patella Syndrome (NPS) is a form of rare genetic disorder. It causes impairment of bones, joints, nails and even kidneys. An absence or immature kneecaps and thumbnails are responsible to cause Nail Patella Syndrome in an individual. Statistics of government agencies and hospitals says that one in every 50000 newborn babies is affected by this disease.
Scientists have established the close relation between glaucoma and nail patella syndrome. At several circumstances it has been found that a newborn affected with this rare disorder has no thumbnails or underdeveloped thumbnails. The mother of such babies and other family members has also found with an absence of thumbnails in most of the medical examinations. However, it is not clear yet, whether glaucoma directly relates to the mutation of NPS gene or it is the deficiency of a separate gene linked with the gene of nail patella disorder.
Sign and Symptoms of Nail Patella Syndrome
General Symptoms- Some of the general symptoms of Nail Patella Syndrome (NPS) are

1. Low peripheral eyesight

2. Blind spots

3. Requires frequent change of spectacles

4. Blurred vision

5. Sore or red eyes or both

6. Seeing rainbows or halos around light source

7. Extreme headache, nausea and eyes pain in some of the cases

If you have any of the above symptoms, it may be because of Nail Patella Syndrome. Go for professional medical help to fix the problem.

Pathological Symptoms- Nail Patella Syndrome (NPS) is identifiable at two different systems, namely; Musculoskeletal and Renal.
Musculoskeletal
Nails- About 80 to 90 percent cases of nail patella syndrome (NPS) show dystrophic nails. Normally nails are found absent or deficient. Some of the symptoms are discolored nails, kolinonychia, longitudinal ridges, triangular lunulae. Fingernails or thumbnails are generally affected.
Knees- Knees patella closely associates with osteoarthiritis, osteoarthrosis and the knee weekness. About in 60% cases knee patella is either found absent or hypoplastic. An after displacement on knee flexion some time also called knock – knee deformity can also be found.
Elbows- Deformity in elbow is not common, but aplasia, hypoplasia, posterior process at distal ends of humerus with increased angle, limit to extension and suppination is found in some of the cases.
Pelvis- Horns or sours can be found in llic bone and these are detectable by X-rays only. These are pathognomic form of Nail Patella Disorder (NPS).

Renal

Renal diseases are closely associates with nail patella disorder (NPS). Studies and hospital surveys shows that about 10% patients of NPS have renal disease. Foremost renal manifestations are: microscopic hematuria, nephritic or minimal proteinuria, edema and hypertension.

Treatment

The treatment for Nail Patella Syndrome (NPS) and glaucoma varies vastly patient to patient. It also depends on age factors etc and the fact that the patient is either newborn or an young person or an old age person. Although, there is no remedy to cure the glaucoma and NPS fully, but it can be controlled with the expert medical help. There are so many procedures like eye drops, pills to swallow, laser techniques, and surgery. However it is very importance to provide regular and periodic treatment to the affected person.

Tania writes on Nail Patella Syndrome.

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