• Pediatric Database (PEDBASE)
  • Discipline: GU
  • Last Updated: 6/05/94
  • NAIL-PATELLA SYNDROME

    DEFINITION:

    A multisystem disorder characterized by dystrophic nails, hypoplastic or absent patellae, and renal disease.

    EPIDEMIOLOGY:

    PATHOGENESIS:

    1. Background

    CLINICAL FEATURES:

    1. Renal Manifestations (50%)

    1. Major

    2. Minor

    3. Complications

    2. Musculoskeletal Manifestations

    1. Nails (80-90%)

    2. Patella (60%)

    3. Elbows

    INVESTIGATIONS:

    1. Urinalysis

    2. Renal Biopsy

    3. Imaging Studies

    1. Skeletal X-Rays

    MANAGEMENT:

    1. Supportive

    2. Medical

    1. Nephritic Syndrome

    • fluid restriction, control hypertension, manage hyperkalemia, manage pulmonary edema

    2. Nephrotic Syndrome

    • fluid restriction, salt-free diet, diuretics, albumin transfusions, prednisone, alkylating agents
    • see file on "Idiopathic Nephrotic Syndrome"

    3. Chronic Renal Failure

    • dialysis and transplantation for end-stage renal failure (ESRF)

    3. Prognosis

    INTERNET LINKS:

    Nail-Patella Syndrome
    Nail-Patella Syndrome
    Nail-Patella Syndrome - Med Students Page
    Nail-Patella Syndrome
    NPS Hands
    NPS Knees