eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Hypophosphatasia: Follow-up

Author: Horacio Plotkin, MD, FAAP, Adjunct Associate Professor of Pediatrics and Orthopedic Surgery, University of Nebraska School of Medicine
Coauthor(s): George A Anadiotis, DO, Consulting Staff, Division of Clinical and Biochemical Genetics, Department of Pediatric Rehabilitation and Development, Emmanuel Children's Hospital
Contributor Information and Disclosures

Updated: May 2, 2008

Follow-up

Complications

  • Complications of the more severe forms of hypophosphatasia usually involve the respiratory system. Skeletal deformities can predispose an infant to respiratory compromise or pneumonia.
  • In the infantile form, craniosynostosis can lead to increased intracranial pressure.

Prognosis

  • The perinatal form is considered lethal.
  • The infantile form is believed to be fatal in approximately 50% of patients.
  • Longevity studies have not been conducted for the infantile and childhood forms. Individuals with the adult and odontohypophosphatasic forms are believed to have normal lifespans.

Patient Education

  • Genetic counseling is important for all families who have affected children.
  • A pedigree is essential, especially for the childhood, adult, or odontohypophosphatasic forms, which can have either autosomal dominant or recessive forms.
  • Options for future pregnancies, such as prenatal testing for the perinatal form, should be discussed with parents.

Miscellaneous

Medicolegal Pitfalls

  • Failure to discuss recurrence risks with parents of an affected child
  • Failure to refer patient to appropriate specialist for care of skeletal or dentition complications

Special Concerns

  • Prenatal diagnosis is available only for the perinatal form.
  • Chorionic villus sampling (CVS) is used during the first trimester.
  • A monoclonal antibody assay for TNSALP activity is available, as are DNA testing methods.
  • By the second trimester, many of the skeletal abnormalities can be noted on ultrasound.
  • Currently, protocol involves the use of CVS followed by serial ultrasonography.
 


More on Hypophosphatasia

Overview: Hypophosphatasia
Differential Diagnoses & Workup: Hypophosphatasia
Treatment & Medication: Hypophosphatasia
Follow-up: Hypophosphatasia
References
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References

  1. Nishioka T, Tomatsu S, Gutierrez MA, et al. Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab. Jul 2006;88(3):244-55. [Medline].

  2. Fraser D. Hypophosphatasia. Am J Med. May 1957;22(5):730-46. [Medline].

  3. Girschick HJ, Mornet E, Beer M, Warmuth-Metz M, Schneider P. Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy. BMC Pediatr. Jan 2007;7:[Medline].

  4. Millán JL, Narisawa S, Lemire I, Loisel TP, Boileau G, Leonard P, et al. Enzyme Replacement Therapy for Murine Hypophosphatasia. J Bone Miner Res. Jan 08;23:[Medline].

  5. Whyte MP, Mumm S, Deal C. Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab. Apr 2007;92:1203-8. [Medline].

  6. Cahill RA, Wenkert D, Perlman SA, Steele A, Coburn SP, McAlister WH, et al. Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. J Clin Endocrinol Metab. Aug 2007;92:2923-30. [Medline].

  7. van den Bos T, Handoko G, Niehof A, et al. Cementum and dentin in hypophosphatasia. J Dent Res. Nov 2005;84(11):1021-5. [Medline].

  8. Whyte MP. The metabolic & molecular bases of inherited disease. In: Hypophosphatasia. 8th ed. 2001:5313-29.

  9. Whyte MP. Primer on the metabolic bone diseases and disorders of mineral metabolism. In: Hypophosphatasia. 5th ed. 2003:423-5.

  10. Whyte MP, Kurtzberg J, McAlister WH, et al. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. Apr 2003;18(4):624-36. [Medline].

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Further Reading

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Keywords

hypophosphatasia, perinatal hypophosphatasia, infantile hypophosphatasia, childhood hypophosphatasia, adult hypophosphatasia, phosphoethanolaminuria, odontohypophosphatasia, tissue-nonspecific isoenzyme of alkaline phosphatase, TNSALP , rickets, osteomalacia, rachitic deformities, stress fractures, polyhydramnios, Bowdler spurs, severe respiratory compromise,  fever of unknown origin, anemia, bradycardia, seizures, intracranial hemorrhage, failure to thrive, hypotonia, hypoplastic lungs, craniosynostosis, hypercalcemia, osteomyelitis, pneumonia

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Contributor Information and Disclosures

Author

Horacio Plotkin, MD, FAAP, Adjunct Associate Professor of Pediatrics and Orthopedic Surgery, University of Nebraska School of Medicine
Horacio Plotkin, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Genzyme Corporation Salary Management position

Coauthor(s)

George A Anadiotis, DO, Consulting Staff, Division of Clinical and Biochemical Genetics, Department of Pediatric Rehabilitation and Development, Emmanuel Children's Hospital
George A Anadiotis, DO is a member of the following medical societies: American Medical Association and American Society of Human Genetics
Disclosure: Nothing to disclose.

Medical Editor

James Bowman, MD, Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago
James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society of Clinical Pathologists, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Leonard G Feld, MD, PhD, MMM, Chairman of Pediatrics, Carolinas Medical Center; Chief Medical Officer, Levine Children's Hospital, Carolinas Healthcare System
Leonard G Feld, MD, PhD, MMM is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Heart Association, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplant Surgeons, Eastern Society for Pediatric Research, International Society of Nephrology, Juvenile Diabetes Foundation International, National Kidney Foundation, Society for Experimental Biology and Medicine, and Society for Pediatric Research
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; Pfizer Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, 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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