Author(s)

David Vila-Pérez, Sílvia Marín-del-Barrio, Jordi Vila-Cots, Jose Antonio Camacho-Díaz, Marcos Morey, Lourdes Loidi

Department of Endocrinology, Hospital Sant Joan de Déu, Barcelona, Spain.
Department of genomics, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.
Department of Nephrology, Hospital Sant Joan de Déu, Barcelona, Spain.

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.

Rickets; X-Linked Hypophosphatemic Rickets; XHR; PHEX Gene

Vila-Pérez, D. , Marín-del-Barrio, S. , Vila-Cots, J. , Camacho-Díaz, J. , Morey, M. and Loidi, L. (2014) Four Cases of X-Linked Hypophosphatemic Rickets, Clinical Description and Genetic Testing. Open Journal of Genetics, 4, 40-45. doi: 10.4236/ojgen.2014.41006.