X-linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment

Marcia Janneth Bermeo Cabrera; Pablo Roberto Ordoñez Chacha; Alfredo Adolfo Reza-Albarrán; Ana Karina Ordoñez Chacha; Marcy Acosta Acero; Agustin Rodas Serrano

doi:10.1002/ccr3.6217

X-linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment

Clin Case Rep. 2022 Aug 15;10(8):e6217. doi: 10.1002/ccr3.6217. eCollection 2022 Aug.

Authors

Marcia Janneth Bermeo Cabrera¹, Pablo Roberto Ordoñez Chacha¹, Alfredo Adolfo Reza-Albarrán², Ana Karina Ordoñez Chacha³, Marcy Acosta Acero⁴, Agustin Rodas Serrano⁴

Affiliations

¹ Department of Endocrinology and Internal Medicine Municipal Foundation for Women and Children (Fundación Municipal de la Mujer y el Niño - FMMN) Cuenca Ecuador.
² Department of Endocrinology Salvador Zubiran National Institute of Health Sciences and Nutrition (Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran - INCMNSZ) Mexico City Mexico.
³ Department of Internal Medicine Loja Central Day Hospital Outpatient Surgical Clinical Center (Centro Clinico Quirúrgico Ambulatorio Hospital del Dial Central Loja- CCQAHDCL), Loja, Ecuador. Cuenca Ecuador.
⁴ Deparment of Genetics. Rio Hospital (Hospital del Rio) Loja Ecuador.

Abstract

X-linked hypophosphatemia (XLH) is a rare disexase in which patients present with severe bowing of the legs, joint pain, and mobility problems. XLH has major adverse repercussions on the quality of life.

Keywords: genetic; hypophosphatemia; pain; rickets.

Publication types

Case Reports