Genetics of Nail-Patella Syndrome Follow-up

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

Further Outpatient Care

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  • Annual renal function screening with urinalysis, blood testing for BUN and creatinine levels, and blood pressure assessment is indicated.

  • Annual ophthalmological evaluation is indicated for detection of glaucoma.

  • Orthopedic consultations are indicated as needed.

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Further Inpatient Care

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  • Admit patients with nail-patella syndrome (NPS) for testing and renal transplantation if end-stage renal disease is progressive.

  • If the patient has severe joint problems, surgery such as joint replacement or patellar realignment may be required.

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Inpatient & Outpatient Medications

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  • ACE inhibitors should be used to treat proteinuria and/or hypertension in nail-patella syndrome. Consultation with a nephrologist may permit implementation of prophylactic treatment with ACE inhibitor medication prior to overt proteinuria or hypertension.

  • Prednisone, vitamin D replacement, and thiazides are appropriate to manage nephrotic syndrome and end-stage renal failure (ESRF).

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Transfer

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  • Transfer may be required for further evaluation and renal transplantation.

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Complications

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  • Glaucoma

  • Osteoarthritis

  • Nephrotic syndrome

  • ESRF

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Prognosis

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  • Approximately 30-55% of patients with nail-patella syndrome develop nephropathy, which may lead to ESRF in about 5% of patients.

  • Prognosis after renal transplantation is good.

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Patient Education

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  • Genetic counseling is recommended because the risk of having affected offspring is 50%. Prenatal diagnosis using molecular analysis is possible but because of the marked intrafamilial variability, the severity of the condition in an affected child cannot be predicted.

  • Stress the importance of regular assessment of renal function to the patient.

  • The patient should receive annual glaucoma checks.

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