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Genetics of Nail-Patella Syndrome Follow-up

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

Further Outpatient Care

See the list below:

  • 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

See the list below:

  • 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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Contributor Information and Disclosures
Author

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

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

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

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.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

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

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference 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.

References
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Nail of a patient the nail-patella syndrome.
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.
Triangular lunules. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
X-ray of pelvis showing iliac horns. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
X-ray of pelvis showing iliac horns in early childhood. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
Lester's sign of the iris. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
 
 
 
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