%0 Journal Article
%T Four Cases of X-Linked Hypophosphatemic Rickets, Clinical Description and Genetic Testing
%A David Vila-P¨¦rez
%A S¨ªlvia Mar¨ªn-del-Barrio
%A Jordi Vila-Cots
%A Jose Antonio Camacho-D¨ªaz
%A Marcos Morey
%A Lourdes Loidi
%J Open Journal of Genetics
%P 40-45
%@ 2162-4461
%D 2014
%I Scientific Research Publishing
%R 10.4236/ojgen.2014.41006
%X <p>
	<span style=\"font-family:Verdana;\">One of the major causes of congenital
hypophosphatemic rickets is the X-linked hypophospha</span><span style=\"font-family:Verdana;\">temic 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 hypophos</span><span style=\"font-family:Verdana;\">phatemia
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 </span><span style=\"font-family:Verdana;\">¡°</span><i><span style=\"font-family:Verdana;\">de novo</span></i><span style=\"font-family:Verdana;\">¡±</span><span style=\"font-family:Verdana;\"> 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.</span> 
</p>
<p>
	<span style=\"font-family:Verdana;\"> </span> 
</p>
%K Rickets
%K X-Linked Hypophosphatemic Rickets
%K XHR
%K PHEX Gene
%U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=43468