Familial Hypophosphatemia and Related Disorders

Ingrid A. Holm, Michael J. Econs, Thomas O. Carpenter

Research output: Chapter in Book/Report/Conference proceedingChapter

16 Citations (Scopus)

Abstract

This chapter provides an overview of the prototype X-linked hypophosphatemic disease (XLH). The chapter discusses key elements central to the pathophysiology of XLH and its related disorders, including the putative function of the mutated endopeptidase PHEX and the substances that appear to be important candidates for mediation of the disease. The chapter reviews the biochemistry of FGF23 with respect to its role in the related disorder, autosomal-dominant hypophosphatemic rickets (ADHR). Clinical features of related disorders, including ADHR, hereditary hypophosphatemic rickets with hypercalciuria (HHRH), and tumor-induced osteomalacia (TIO) are compared to those observed in XLH. XLH is one of the most common bone diseases seen in children. XLH is characterized by renal phosphate wasting leading to hypophosphatemia and low or normal concentrations of 1,25-dihydroxyvitamin D [1,25(OH)2D], an inappropriate response to hypophosphatemia. In children, the disorder first becomes apparent with the development of rickets, skeletal deformities, short stature, and dental abscesses. In adults, manifestations of XLH include osteomalacia, degenerative joint disease, enthesopathy, bone and joint pain, and continued dental disease.

Original languageEnglish (US)
Title of host publicationPediatric Bone: Biology & Diseases
PublisherElsevier Inc.
Pages603-631
Number of pages29
ISBN (Print)9780122865510
DOIs
StatePublished - Sep 2003

Fingerprint

Familial Hypophosphatemia
Hypophosphatemia
Stomatognathic Diseases
Osteomalacia
Endopeptidases
Rickets
Bone
Bone Diseases
Arthralgia
Osteoarthritis
Biochemistry
Abscess
Tooth
Phosphates
Kidney
Bone and Bones
Tumors

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Holm, I. A., Econs, M. J., & Carpenter, T. O. (2003). Familial Hypophosphatemia and Related Disorders. In Pediatric Bone: Biology & Diseases (pp. 603-631). Elsevier Inc.. https://doi.org/10.1016/B978-012286551-0/50027-0

Familial Hypophosphatemia and Related Disorders. / Holm, Ingrid A.; Econs, Michael J.; Carpenter, Thomas O.

Pediatric Bone: Biology & Diseases. Elsevier Inc., 2003. p. 603-631.

Research output: Chapter in Book/Report/Conference proceedingChapter

Holm, IA, Econs, MJ & Carpenter, TO 2003, Familial Hypophosphatemia and Related Disorders. in Pediatric Bone: Biology & Diseases. Elsevier Inc., pp. 603-631. https://doi.org/10.1016/B978-012286551-0/50027-0
Holm IA, Econs MJ, Carpenter TO. Familial Hypophosphatemia and Related Disorders. In Pediatric Bone: Biology & Diseases. Elsevier Inc. 2003. p. 603-631 https://doi.org/10.1016/B978-012286551-0/50027-0
Holm, Ingrid A. ; Econs, Michael J. ; Carpenter, Thomas O. / Familial Hypophosphatemia and Related Disorders. Pediatric Bone: Biology & Diseases. Elsevier Inc., 2003. pp. 603-631
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