eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics
Nail-Patella Syndrome: Treatment & Medication
Updated: Oct 20, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
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.
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.
Consultations
- Geneticist
- Orthopaedist
- Ophthalmologist
- Nephrologist
Diet
- No dietary restrictions are necessary unless hypertension or nephrotic syndrome develop.
Activity
- Joint abnormalities and pain may limit physical activity.
Medication
ACE inhibitors should be used to treat proteinuria, hypertension, or both in nail-patella syndrome (NPS). Consultation with a nephrologist may permit implementation of prophylactic treatment with ACE inhibitor medication prior to overt proteinuria or hypertension.
Vitamin D analogs, thiazides, and prednisone are effective in alleviating the complicating symptoms of nephrotic syndrome and end-stage renal failure (ESRF) in nail-patella syndrome as in all patients with ESRF.4
Vitamin D Analog
Vitamin D is necessary to maintain the correct amount of calcium needed for strong bones and teeth and is needed throughout the body.
Calcitriol (Rocaltrol)
Increases calcium levels by promoting absorption of calcium in intestines and retention in kidneys. The beneficial effects of vitamin D replacement in renal osteodystrophy appear to result from correction of hypocalcemia and secondary hyperparathyroidism.
Adult
0.25 mcg/d PO initially
If the response in the biochemical parameters and clinical manifestations of the disease state is not satisfactory, dosage may be increased by 0.25 mcg/d q4-8wk; typical dosage range is 0.5-1 mcg/d
Pediatric
<3 years: 10-15 ng/kg/d PO
>3 years: Administer as in adults
Cholestyramine and colestipol decrease absorption of calcitriol; magnesium-containing antacids and thiazide diuretics can increase calcitriol effects
Documented hypersensitivity; hypercalcemia; malabsorption syndrome
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Hypercalcemia, hypercalciuria, and hyperphosphatemia
Thiazide diuretics
These agents are used to treat edema caused by renal dysfunction (eg, nephrotic syndrome, chronic renal failure).
Hydrochlorothiazide (Hydro-Diuril, Microzide)
Inhibits reabsorption of sodium in distal tubules, increasing excretion of sodium, water, and potassium and hydrogen ions.
Adult
25-100 mg PO qd or divided bid
Pediatric
1-2 mg/kg PO qd or divided bid; not to exceed 37.5 mg/d (age <2 y) or 100 mg/d (age 2-12 y)
May decrease effects of anticoagulants, antigout agents, or sulfonylureas; may increase toxicity of allopurinol, anesthetics, antineoplastics, calcium salts, loop diuretics, lithium, diazoxide, digitalis, amphotericin B, or nondepolarizing muscle relaxants
Documented hypersensitivity; anuria or renal decompensation
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Caution in renal or hepatic disease, gout, diabetes mellitus, or erythematosus
Corticosteroids
These agents induce diuresis or remission of proteinuria in nephrotic syndrome.
Prednisone (Deltasone, Orasone)
Acts as an anti-inflammatory agent and immunosuppressant.
Dose depends on specific disease entity being treated; in situations of less severity, lower doses generally suffice, whereas, in selected patients, higher initial doses may be required; initial dosage should be maintained or adjusted prn.
Alternate day therapy (ADT) PO is a corticosteroid-dosing regimen in which twice the usual daily dose of corticoid is administered every other morning.
The purpose of this mode of therapy is to provide the patient who requires long-term pharmacologic dose treatment with the beneficial effects of corticoids while minimizing certain undesirable effects, including pituitary-adrenal suppression, the Cushingoid state, corticoid withdrawal symptoms, and growth suppression in children.
Adult
5-60 mg/d PO
Pediatric
1-2 mg/kg/d PO
Coadministration with estrogens may decrease clearance; concurrent use with digoxin may cause digitalis toxicity secondary to hypokalemia; phenobarbital, phenytoin, and rifampin may increase metabolism of glucocorticoids (consider increasing maintenance dose); monitor for hypokalemia with coadministration of diuretics
Documented hypersensitivity; viral infection; peptic ulcer disease; hepatic dysfunction; connective tissue infections; fungal or tubercular skin infections; GI disease
Pregnancy
B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals
Precautions
Abrupt discontinuation of glucocorticoids may cause adrenal crisis; hyperglycemia, edema, osteonecrosis, myopathy, peptic ulcer disease, hypokalemia, osteoporosis, euphoria, psychosis, myasthenia gravis, growth suppression, and infections may occur with glucocorticoid use
Angiotensin-converting Enzyme (ace) Inhibitor
ACE inhibitors are preferred for treating hypertension and proteinuria associated with nail-patella syndrome.
Captopril (Capoten)
Captopril is an example of an ACE inhibitor used off-label for hypertension and proteinuria in neonates, infants, and children. Prevents conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, resulting in lower aldosterone secretion.
Adult
12.5-25 mg PO bid/tid initially, may increase according to control of blood pressure and proteinuria
Administer 1 h ac or 2 h pc
Pediatric
Off-label
Neonates: 0.01-0.05 mg/kg/dose PO q8-12h
Infants: 0.15-0.3 mg/kg/dose PO initially; titrate upward, not to exceed 6 mg/kg/day divided bid/qid
Children: 0.3-0.5 mg/kg/dose PO initially; titrate upward, not to exceed 6 mg/kg/day divided bid/qid
Older children: 6.25-12.5 mg/dose PO q12-24h initially; titrate upward, not to exceed 6 mg/kg/day divided bid/qid
Administer 1 h ac or 2 h pc
NSAIDs may reduce hypotensive effects of captopril; ACE inhibitors may increase digoxin, lithium, and allopurinol levels; rifampin decreases captopril levels; probenecid may increase captopril levels; the hypotensive effects of ACE inhibitors may be enhanced when given concurrently with diuretics
Documented hypersensitivity
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
D - Fetal risk shown in humans; use only if benefits outweigh risk to fetus
Precautions
May cause chronic cough; decrease dose by 50% if dehydrated or sodium depleted; caution in renal impairment, valvular stenosis, or severe congestive heart failure
More on Nail-Patella Syndrome |
| Overview: Nail-Patella Syndrome |
| Differential Diagnoses & Workup: Nail-Patella Syndrome |
 Treatment & Medication: Nail-Patella Syndrome |
| Follow-up: Nail-Patella Syndrome |
| Multimedia: Nail-Patella Syndrome |
| References |
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References
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Further Reading
Keywords
nail-patella syndrome, NPS, Fong disease, NPS 1, onycho-osteodysplasia, hereditary onycho-osteodysplasia disease, HOOD, Turner-Kieser syndrome, arthro-onychodysplasia, nephrotic syndrome, end-stage renal disease, ESRD, end-stage renal failure, ESRF, LMX1B, NPS1, proteinuria, spondylolisthesis, attention deficit disorder, ADD, attention deficit hyperactivity disorder, ADHD, constipation, irritable bowel syndrome, IBS, osteoarthritis, treatment, diagnosis
