Medication Summary
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. [16]
Vitamin D Analog
Class Summary
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.
Thiazide diuretics
Class Summary
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.
Corticosteroids
Class Summary
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.
Angiotensin-converting Enzyme (ace) Inhibitor
Class Summary
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.
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Nail of a patient the nail-patella syndrome.
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Decreased severity of nail dystrophy towards the fifth finger and loss of skin creases over the distal interphalangeal joints. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
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Triangular lunules. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
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X-ray of pelvis showing iliac horns. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
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X-ray of pelvis showing iliac horns in early childhood. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
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Lester's sign of the iris. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
