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PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.
Forero-Delgadillo, Jessica María; Cleves, Daniela; Ochoa, Vanessa; Londoño-Correa, Hernando; Restrepo, Jaime Manuel; Nastasi-Catanese, José Antonio; Pachajoa, Harry.
Afiliación
  • Forero-Delgadillo JM; Pediatric Nephrology Fellow, Universidad Icesi-Fundación Valle de Lili, Cali, Colombia.
  • Cleves D; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.
  • Ochoa V; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.
  • Londoño-Correa H; Pediatrics Resident, Universidad Icesi-Fundación Valle de Lili, Cali, Colombia.
  • Restrepo JM; Pediatric Nephrology Fellow, Universidad Icesi-Fundación Valle de Lili, Cali, Colombia.
  • Nastasi-Catanese JA; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.
  • Pachajoa H; Pediatric Nephrology Department, Fundación Valle del Lili, Cali, Colombia.
Appl Clin Genet ; 13: 57-62, 2020.
Article en En | MEDLINE | ID: mdl-32104046
INTRODUCTION: X-linked hypophosphatemic rickets is part of a larger group of hereditary diseases characterized by renal phosphate loss, which causes growth disorders, rickets, and osteomalacia. These conditions are characterized by disorders in phosphate equilibrium, which is essential for bone formation. CASE REPORT: A female patient presented with bone deformities of the inferior extremities, prominent joints, and loss of teeth. She received initial management with oral calcium and orthotics in inferior extremities, with poor clinical outcome. PHEX gene sequencing revealed a pathogenic variant c.1601C>T (p.Pro534Leu). DISCUSSION: XLHR is caused by mutations in the PHEX gene; to date, more than 460 mutations have been associated with the disease. Clinically, it is characterized by bowing of the lower extremities, decreased growth, musculoskeletal complaints, dental abscesses, and other clinical signs and symptoms of rickets.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Appl Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: Colombia Pais de publicación: Nueva Zelanda
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Appl Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: Colombia Pais de publicación: Nueva Zelanda