Genetics of Nail-Patella Syndrome Medication

  • Author: Julie Hoover-Fong, MD, PhD, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Apr 2, 2012
 

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.[7]

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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.

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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.

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Thiazide diuretics

Class Summary

These agents are used to treat edema caused by renal dysfunction (eg, nephrotic syndrome, chronic renal failure).

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Hydrochlorothiazide (Hydro-Diuril, Microzide)

 

Inhibits reabsorption of sodium in distal tubules, increasing excretion of sodium, water, and potassium and hydrogen ions.

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Corticosteroids

Class Summary

These agents induce diuresis or remission of proteinuria in nephrotic syndrome.

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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.

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Angiotensin-converting Enzyme (ace) Inhibitor

Class Summary

ACE inhibitors are preferred for treating hypertension and proteinuria associated with nail-patella syndrome.

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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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Contributor Information and Disclosures
Author

Julie Hoover-Fong, MD, PhD, FACMG  Assistant Professor, Director, Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University

Julie Hoover-Fong, MD, PhD, FACMG is a member of the following medical societies: American College of Medical Genetics, American Society of Human Genetics, and International Skeletal Dysplasia Society

Disclosure: Nothing to disclose.

Coauthor(s)

Iain McIntosh, PhD  Professor of Medical Genetics, Chair, Department of Molecular and Cell Biology, Director, Stephen Gaffin Research Laboratory, American University of the Carribean

Iain McIntosh, PhD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Elizabeth Sweeney, MBChB, MD  Consultant Clinical Geneticist, Royal Liverpool Children's Hospital, UK

Elizabeth Sweeney, MBChB, MD is a member of the following medical societies: British Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Christian J Renner, MD  Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Leonard G Feld, MD, PhD, MMM, FAAP  Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center

Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International

Disclosure: Nothing to disclose.

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors Suzanne M Carter, MS, and Susan J Gross, MD, FRCS(C), FACOG, FACMG, to the original writing and development of this article.

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