Nail patella syndrome

Remember that your manicured fingernails and toenails are not so very healthy? Well, make sure that you don’t flaunt over your white nails. Chances are you might develop some kind of bizarre symptoms.

Well that’s Nail Patella Syndrome, which has been in existence for yearly a century. This rare genetic multi-system disease of the connective tissue affects both males and females equally. Here, there is poor development of fingernails, toenails and knee caps (patella). The rate of incidence is about one in 50000 births.

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CAUSES

Nail Patella Syndrome is caused by configuration in a gene called as LIM Homeobox Transcription Factor 1-Beta (LMX1B), which is important for embryonic limb development. It is located on the long arm of chromosome nine.

An autosomal gene disorder, the chances of transmission are very high. This means that if a parent is affected, there are fifty percent chances of the children carrying this gene, thereby causing mutation.

A new mutation can also occur even in case of patients who do not have family history. This is known as sporadic occurrence. It accounts for nearly twenty percent of cases of nail-patella syndrome.

SYMPTOMS

There are large numbers of medical symptoms of nail patella syndrome, which vary from patient to patient.

FINGERNAIL ABNORMALITIES: Nearly eighty percent of the patients are found with this symptom. It may be found in one or more nails, particularly the thumbs and index fingers. It may be tiny and curved shaped ridges, slits or discoloration. Toenails are affected rarely.

KNEECAP ABNORMALITIES: These are the second most common symptom associated with nail patella syndrome. Either or both the kneecaps may be partially or completely deformed. It is often associated with the malformation of bones, ligaments and tendons, which make the patients difficult to walk.

KIDNEY PROBLEMS: So far at least thirty percent of patients affected with nail-patella syndrome are suffering with rare renal problems. This may be due to the inflammation of the clusters of capillaries in the kidneys. Early symptoms include blood in the urine and renal stones, which need to be diagnosed properly. If untreated, kidney failure is the most dangerous consequence of nail patella syndrome.

MUSCULAR SKELETAL SYMPTOMS: Patients with nail patella syndrome may not be able to stretch their arms properly. Likewise, patients may have sideways bent fingers, poorly developed shoulder blades, clubfoot, hip dislocation or deformed neck bones.

EYE PROBLEMS: Eye problems may vary from person to person. It is due to open angle glaucoma, which is caused by the fluid blocking the front chamber of the eye. This may create pressure for the eye to function properly. If untreated, it may lead to rupture of optic nerve. Other symptoms include drooping eyelids, abnormalities of the cornea, cataracts and astigmatism.

TREATMENT

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The treatment depends on the patient’s specific symptoms.

Kidney problems: Dialysis and kidney transplant.
Muscular abnormalities: Wheelchair or orthopedic surgery
Eye problems: Cataracts may be treated surgically. Glaucoma may require timely medications.
Being a genetic disorder, genetic counseling is provided to the affected nail patella syndrome.

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