Hypophosphatemic Rickets Clinical Presentation

  • Author: Karl S Roth, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: Aug 23, 2011
 

History

The earliest clinical sign of hypophosphatemic rickets is usually a somewhat slowed growth rate in the first year of life. The next clinical sign is the patient's reluctance to bear weight when beginning to stand or walk. Oddly, affected individuals do not have seizures and other systemic signs related to muscle function or oxidative metabolism.

To the degree that heterozygous females are affected, the patient's maternal family history is likely to include short stature and rickets. Short stature in men is also expected. Older children may have a history of late dentition or multiple dental abscesses.

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Physical Examination

Affected newborns have normal weight, but infants may show growth retardation. Intellectual development is unaffected. Widened joint spaces and flaring at the knees may become apparent in children by their first birthday, particularly in boys. When a child begins to stand and walk, bowing of the weight-bearing long bones quickly becomes clinically evident. Dentition may be absent or delayed in very young children; older children may experience multiple dental abscesses.

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Contributor Information and Disclosures
Author

Karl S Roth, MD  Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Clinical Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

James CM Chan, MD  Professor of Pediatrics, Tufts University School of Medicine; Director of Research, The Barbara Bush Children's Hospital, Maine Medical Center

James CM Chan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, and International Society of Nephrology

Disclosure: Nothing to disclose.

Specialty Editor Board

Arlan L Rosenbloom, MD  Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida College of Medicine; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology

Arlan L Rosenbloom, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Florida Pediatric Society, Pediatric Endocrine Society, and Society for Pediatric Research

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.

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London)  Professor and Chair, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children's Hospital, Greece; UNESCO Chair on Adolescent Health Care, University of Athens, Greece

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) is a member of the following medical societies: American Academy of Pediatrics, American College of Endocrinology, American College of Physicians, American Pediatric Society, American Society for Clinical Investigation, Association of American Physicians, Endocrine Society, Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD  Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

References

  1. Roth KS, Ward RJ, Chan JCM, Sarafoglou K. Disorders of calcium, phosphate and bone metabolism. In: Sarafoglou K, Hoffmann GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. New York, NY: McGraw Hill; 2009:619-64.

  2. Prié D, Friedlander G. Genetic disorders of renal phosphate transport. N Engl J Med. Jun 24 2010;362(25):2399-409. [Medline].

  3. Ariceta G, Langman CB. Growth in X-linked hypophosphatemic rickets. Eur J Pediatr. Apr 2007;166(4):303-9. [Medline].

  4. Haffner D, Nissel R, Wuhl E, Mehls O. Effects of growth hormone treatment on body proportions and final height among small children with X-linked hypophosphatemic rickets. Pediatrics. Jun 2004;113(6):e593-6. [Medline].

  5. Sochett E, Doria AS, Henriques F, et al. Growth and metabolic control during puberty in girls with X-linked hypophosphataemic rickets. Horm Res. 2004;61(5):252-6. [Medline].

  6. Bastepe M, Jueppner H. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. Rev Endocr Metab Disord. Jun/2008;9:171-180.

  7. Baum M, Syal A, Quigley R, Seikaly M. Role of prostaglandins in the pathogenesis of X-linked hypophosphatemia. Pediatr Nephrol. Aug 2006;21(8):1067-74. [Medline].

  8. Jehan F, Gaucher C, Nguyen TM, et al. Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. J Clin Endocrinol Metab. Dec/2008;93:4672-4682.

  9. Cho HY, Lee BH, Kang JH, et al. A clinical and molecular genetic study of hypophosphatemic rickets in children. Pediatr Res. Aug 2005;58(2):329-33. [Medline].

  10. Bresler D, Bruder J, Mohnike K, et al. Serum MEPE-ASARM-peptides are elevated in X-linked rickets (HYP): implications for phosphaturia and rickets. J Endocrinol. Dec 2004;183(3):R1-9. [Medline].

  11. Segawa H, Kaneko I, Tomoe Y, et al. The roles of Na/Pi-II transporters in phosphate metabolism. Bone. Feb/2009;Epub:Epub.

  12. Beck-Nielsen SS, Brock-Jacobsen B, Gram J, et al. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. Eur J Endocrinol. Mar/2009;160:491-497.

  13. Verge CF, Lam A, Simpson JM, Cowell CT, Howard NJ, Silink M. Effects of therapy in X-linked hypophosphatemic rickets. N Engl J Med. Dec 26 1991;325(26):1843-8. [Medline].

  14. Alon US, Monzavi R, Lilien M, et al. Hypertension in hypophosphatemic rickets--role of secondary hyperparathyroidism. Pediatr Nephrol. Feb 2003;18(2):155-8. [Medline].

 
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