What is nail patella syndrome?

This is a genetic disorder that is likely to affect the nails, kneecaps, elbows, kidneys, and eyes of the individual. The dysplasia can affect a single organ or a combination of symptoms may be seen. Since Nail Patella Syndrome (NPS) is caused by a mutant gene which affects the embryonic development, it has no cure.

For those undergoing in vitro fertilization there is a pre-implantation genetic diagnosis, which allows testing and implanting of embryos showing no signs of NPS. There is no way to correct it in a natural pregnancy. The various symptoms which manifest on the human body as a result of NPS need to be treated by specialists. Living with a rare genetic disease is not easy and healthcare can often require contributions from the full family.

Managing nail patella syndrome

There is no cure for NPS once diagnosed; It comes down to symptom management. The individual with NPS may remain asymptomatic for a long while despite showing the visual signs of having misshaped nails. However in the interest of maintaining good health, doctors should inform these individuals of the potential risks that they may face. The primary care givers of children with NPS should be told to watch out for symptoms that may require closer examination.

Physical symptoms and associated treatment

There is little that can be done to improve the condition of the nails. Missing nails will not grow back and misshaped nails get corrected. Contrary to the name, NPS affects more than just nails. Other organs may end up getting affected in the long run. Each symptom will require to be treated individually by a specialist.

Orthopedic problems

The primary solution to orthopedic problems such as bone growth abnormalities would be corrective surgery. Individuals with NPS may have missing patellas or kneecaps which can be surgically treated by providing artificial replacements. The prosthetics can also be used for joint replacement in the elbows. For abnormal webbing at the bend of the elbow, surgical corrections could improve the ability of the individual to extend the arm.

MRIs are often used to monitor bone anomalies and further treatment is suggested on case basis. Physiotherapy and bracing are often used to alleviate physical discomfort and pain. Non- steroidal anti-inflammatory drugs may be prescribed to take the edge off the pain experienced. It is advisable on to use these painkillers for a long time as they may prove addictive.

Ocular abnormalities

As NPS may not always immediately result in eye related problems, an annual checkup is suggested to screen for possible issues to be caught as soon as they manifest. Glaucoma is treated, as it would be for the normal population, with eye drops, and if required, a procedure is carried out to reduce ocular pressure due to fluid accumulation.

Cataracts may cause the eyesight to become blurry, and will have to be surgically removed once they have developed adequately. Lester iris or abnormal darkening of irises, the colored portions of the eye, can be seen in the shape of a clover leaf. Palliative care is taken to address distressing symptoms as they arise.

Kidney malfunction

There is an increased risk of incurring kidney disease, which if left undiagnosed can lead to renal failure. Annual urine tests can be used to screen for malfunctioning of the kidneys. Medication can help control more benign kidney related problems. If required doctors may advice dialysis for severe cases of nephropathy. Individuals should be asked to check for protein or blood present in urine as an indication of a problem. In extreme life threatening cases of end stage renal disease, a kidney transplant may also be suggested.

Pregnancy management

Due to the possible presence of kidney disease, blood pressure will need to be closely monitored throughout pregnancy of an individual suffering from NPS. If it shoots up abnormally, appropriate treatment will be required. Genetic counseling would benefit the pregnant individual and her family. This will ensure that they are able to understand the care a child born with NPS will require. This is important as early intervention for children with NPS can allow them to receive the social support and physical treatment that can make their lives easier.

Overall health monitoring

Bone density tests should be suggested in order to keep track of the individual’s likelihood of developing osteoporosis. While NPS may remain asymptomatic for a long time, smaller abnormalities such as anemia and edema should be paid attention to. These are usually an indication of a nephrotic syndrome. A small percentage of individuals may also have digestive tract related problems such as constipation and irritable bowel syndrome. These are treated symptomatically by helping to reduce the distress and discomfort experienced by the individual.

References

1. http://rarediseases.org/rare-diseases/nail-patella-syndrome/
2. http://www.nhs.uk/conditions/nail-patella-syndrome/Pages/Introduction.aspx
3. http://rarediseases.org/rare-diseases/nail-patella-syndrome/
4. https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome
5. http://www.ncbi.nlm.nih.gov/books/NBK1132/

Further Reading

• All Nail Patella Syndrome Content
• Nail Patella Syndrome Features
• Nail Patella Syndrome Genetics