Hypophosphataemic rickets.
X-Linked hypophosphataemic rickets (XLH) is frequently associated with short stature even when conventional treatment (1, 25-dihydroxyvitamin D(3) or 1alpha-hydroxyvitamin D(3) plus inorganic phosphate salts) is administered for a long time. The pathogenesis of growth retardation is probably multifactorial. Affected patients usually show normal growth hormone (GH) secretion. In some poorly growing XLH patients, long-term GH treatment associated with conventional therapy improves linear growth. GH treatment also increases phosphate retention but this effect is transient.
Saggese
G
G
Endocrine Unit, Division of Paediatrics, Department of Reproductive Medicine and Paediatrics, University of Pisa, Italy. gsaggese@alp.med.unipi.it
Baroncelli
G I
GI
D002648:Child; D006128:Growth / Q000502:physiology; D019382:Human Growth Hormone / Q000378:metabolism; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
D019382:Human Growth Hormone