[Long term follow up of a patient with type I vitamin D-dependent rickets]

Luis Velásquez-Jones; Mara Medeiros; Saúl Valverde-Rosas; Clímaco Jiménez-Triana; Irma Del Moral-Espinosa; José Carlos Romo-Vázquez; Isidro Franco-Alvarez

doi:10.1016/j.bmhimx.2015.03.008

[Long term follow up of a patient with type I vitamin D-dependent rickets]

Bol Med Hosp Infant Mex. 2015 May-Jun;72(3):190-194. doi: 10.1016/j.bmhimx.2015.03.008. Epub 2015 Jul 14.

[Article in Spanish]

Authors

Luis Velásquez-Jones¹, Mara Medeiros², Saúl Valverde-Rosas¹, Clímaco Jiménez-Triana¹, Irma Del Moral-Espinosa¹, José Carlos Romo-Vázquez¹, Isidro Franco-Alvarez¹

Affiliations

¹ Departamento de Nefrología Dr. Gustavo Gordillo Paniagua, Hospital Infantil de México Federico Gómez, México D.F., México.
² Laboratorio de Investigación en Nefrología y Metabolismo Mineral Óseo, Hospital Infantil de México Federico Gómez, México D.F., México. Electronic address: [email protected].

PMID: 29421501
DOI: 10.1016/j.bmhimx.2015.03.008

Abstract

Background: Vitamin D dependent rickets type I is a rare hereditary disease due to a mutation in CYP27B1 encoding the 1α-hydroxylase gene. Clinically, the condition is characterized by hypocalcemic rickets in early infancy due to a deficit in the production of the vitamin D active metabolite 1,25-dihydroxy-vitamin D₃.

Case report: We report the case of a patient diagnosed at 11 months with follow-up until 9 years of age.

Conclusions: The pathophysiology of the disease and the relevance of early diagnosis and management are discussed.

Keywords: 1α,25-dihydroxy-vitamin D(3) selective deficiency; 25(OH)D(3)-1α-hidroxilasa; 25(OH)D(3)-1α-hydroxylase; Deficiencia hereditaria selectiva de 1α,25-dihidroxivitamina D(3); Raquitismo; Raquitismo dependiente de vitamina D tipo I; Rickets; Vitamin D dependent type I rickets.

Publication types

English Abstract