Genetics of Nail-Patella Syndrome Treatment & Management

Updated: Mar 24, 2016
  • Author: Julie Hoover-Fong, MD, PhD, FACMG; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

ACE inhibitors for proteinuria, hypertension, or both are indicated in patients with nail-patella syndrome (NPS). Consultation with a nephrologist may permit implementation of prophylactic treatment with ACE inhibitors.

Dialysis and/or renal transplant may be indicated in as many as 5% of patients who have renal involvement that progresses to end-stage renal disease.

Physical therapy, bracing, and analgesics may be needed for joint pain. Caution is necessary in using analgesics, particularly nonsteroidal anti-inflammatory drugs (NSAIDs) because renal disease may also be part of this condition.

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Surgical Care

Renal transplantation has proven successful in patients with nail-patella syndrome who develop end-stage renal disease.

Patella realignment surgery may help in cases of recurrent dislocation. Joint replacement may be beneficial in cases of severe osteoarthritis of the knee or elbow.

Excision of the radial head should only be undertaken after careful consideration and only for pain relief as range of movement is not usual improved significantly by surgery.

MRI is necessary to reveal the abnormal muscle and nerve insertions that may complicate orthopedic procedures.

A study by Tigchelaar et al found that although surgical treatment for patellofemoral instability appeared to produce unfavorable results in patients with nail-patella syndrome, patients tended to have a good opinion of the outcome. Those who underwent the surgery had lower postoperative Knee Injury and Osteoarthritis Outcome Scores and Kujala knee scores than did patients who did not undergo surgery. Nonetheless, the surgery patients had pain improvement in 87% of knees and functional improvement in 30%; patient satisfaction with surgery reached 61%. [11]

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Consultations

See the list below:

  • Geneticist
  • Orthopaedist
  • Ophthalmologist
  • Nephrologist
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Diet

See the list below:

  • No dietary restrictions are necessary unless hypertension or nephrotic syndrome develop.
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Activity

See the list below:

  • Joint abnormalities and pain may limit physical activity.
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