Nail-Patella Syndrome Treatment & Management

Updated: Feb 19, 2019
  • Author: Anna Choczaj-Kukula, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Treatment

Approach Considerations

A careful family history should be obtained in all patients.

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Medical Care

No treatment is available for the cutaneous findings of nail-patella syndrome (NPS), also known as hereditary osteo-onychodysplasia (HOOD).

Associated abnormalities require appropriate care from specialists.

ACE inhibitors are used to treat renal disease. Proesmans et al reported that enalapril at 1 mg/kg/d plus losartan at 1 mg/kg/d achieved complete remission of proteinuria in a young girl with NPS. [111] End-stage kidney disease patients can undergo transplantation, and the renal involvement does not recur in the transplanted kidney. [43]

Frequent urinalysis and blood pressure measurements are recommended in pregnant women with NPS.

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Surgical Care

More than 90% of individuals with nail-patella syndrome (NPS) have patellar involvement resulting in a wide range of patellofemoral complaints.

Congenital permanent dislocation of the patella (CPDP) should be treated with surgical procedures. [112, 113] Preferably, orthopaedic correction should be performed when the patient is aged approximately 2-3 years to prevent secondary deformities and growth-related disability.

The aim of orthopedic surgery should be correction of the underlying pathology with resection of the synovial band and an additional realignment of the patella by recentering of the quadriceps muscle. Good clinical results have been reported. [72]

There have been reports of total knee arthroplasty in patients with NPS. [114, 115]

In mature patients, milder forms of the disease can be treated with nonoperative measures, but many affected adults require knee surgery, including patellofemoral ligament reconstruction, tibial tuberosity transposition, patellofemoral arthroplasty, and total knee arthroplasty. [45, 47]

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Consultations

Consult an orthopedist, nephrologist, and ophthalmologist, as determined by the patient's history and physical examination findings. Also consult a genetic counselor.

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Prevention

Genetic counseling is recommended because nail-patella syndrome (NPS) is an autosomal dominant disease.

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Long-Term Monitoring

Periodic and prolonged follow up is recommended in all nail-patella syndrome (NPS) patients, with annual monitoring for hypertension and renal disease and screening for ocular hypertension and glaucoma. [59] Despite long periods of stable renal function, long-term follow-up care is essential in patients with NPS.

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