TITLE:
Four Cases of X-Linked Hypophosphatemic Rickets, Clinical Description and Genetic Testing
AUTHORS:
David Vila-Pérez, Sílvia Marín-del-Barrio, Jordi Vila-Cots, Jose Antonio Camacho-Díaz, Marcos Morey, Lourdes Loidi
KEYWORDS:
Rickets; X-Linked Hypophosphatemic Rickets; XHR; PHEX Gene
JOURNAL NAME:
Open Journal of Genetics,
Vol.4 No.1,
March
5,
2014
ABSTRACT: One of the major causes of congenital
hypophosphatemic rickets is the X-linked hypophosphatemic rickets (XHR), due to a defect on PHEX
gene. The XHR increases the renal elimination of phosphate, that condition
leads a defective mineralization of bones and also affects the growth in
children. Clinical diagnosis should be suspected in children with signs of
rickets and hypophosphatemia
with normal calcium levels. We describe clinical characteristics and genetic
results of four patients diagnosed and treated in our Nephrology Section. All
patients have a “de novo” XHR as none
familiars are affected. Early diagnosis should be suspected before the bone
deformities have been submitted and the growth would have been impaired.