eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Nail-Patella Syndrome: Follow-up

Author: Julie Hoover-Fong, MD, PhD, FACMG, Assistant Professor, Director, Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University
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; Elizabeth Sweeney, MBChB, MD, Consultant Clinical Geneticist, Royal Liverpool Children's Hospital, UK
Contributor Information and Disclosures

Updated: Oct 20, 2009

Follow-up

Further Inpatient Care

  • 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.

Further Outpatient Care

  • 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.

Inpatient & Outpatient Medications

  • 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).

Transfer

  • Transfer may be required for further evaluation and renal transplantation.

Complications

  • Glaucoma
  • Osteoarthritis
  • Nephrotic syndrome
  • ESRF

Prognosis

  • 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.

Patient Education

  • 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.

Miscellaneous

Medicolegal Pitfalls

  • Failure to recognize associated conditions such as renal disease or glaucoma
  • Failure to recommend genetic counseling

Special Concerns

  • Nephropathy may occur at any age from birth onwards.
 
Acknowledgments

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.



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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Further Reading

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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, , proteinuria, spondylolisthesis, attention deficit disorder, ADD, attention deficit hyperactivity disorder, ADHD, constipation, irritable bowel syndrome, IBS, osteoarthritis, treatment, diagnosis

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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.

Medical Editor

Christian J Renner, MD, Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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.

CME Editor

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, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, 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.

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