Longitudinal growth in X-linked hypophosphatemic rickets

Marius Schumacher, Olaf Hiort*

*Corresponding author for this work


X-linked hypophosphatemic rickets (XLH) is the most prevalent form of inherited rickets associated with a disorder of phosphate homeostasis. It is caused by deactivating mutations in the PHEX gene. The clinical manifestations are characterized by growth retardation, skeletal deformities, osteomalacia, dental abscesses, and bone pain. Laboratory findings show a hypophosphatemia due to tubular phosphate wasting, elevated bone metabolic parameters, and a resulting inappropriately normal 1,25-dihydroxyvitamin D due to an abnormal vitamin D metabolism. The clinical features show a broad phenotypic variation even within the same family to the extent of some patients growing almost normally and others reaching a final height of -4 SDS or less. Some factors could be identified to show a certain impact on growth, while others remain elusive. Many circumstances of the pathophysiology and factors influencing growth have not yet been understood. The conventional treatment comprises high doses of phosphate and active vitamin D with recent studies demonstrating a positive effect of growth hormone.

Original languageEnglish
Title of host publicationHandbook of Growth and Growth Monitoring in Health and Disease
Number of pages13
PublisherSpringer New York LLC
Publication date01.01.2012
ISBN (Print)9781441917942
ISBN (Electronic)9781441917959
Publication statusPublished - 01.01.2012

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)


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