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

被引：1
|
作者：
Velasquez-Jones, Luis [1 ,3 ]
Medeiros, Mara [2 ,4 ]
Valverde-Rosas, Saul [1 ,3 ]
Jimenez-Triana, Climaco [1 ,3 ]
del Moral-Espinosa, Irma [1 ,3 ]
Carlos Romo-Vazquez, Jose [1 ,3 ]
Franco-Alvarez, Isidro [1 ,3 ]
机构：
[1] Hosp Infantil Mexico Dr Federico Gomez, Dept Nefrol Dr Gustavo Gordillo Paniagua, Mexico City, DF, Mexico
[2] Hosp Infantil Mexico Dr Federico Gomez, Lab Invest Nefrol & Metab Mineral Oseo, Mexico City, DF, Mexico
[3] Hosp Infantil Mexico Dr Federico Gomez, Dept Nefrol Dr Gustavo Gordillo Paniagua, Mexico City, DF, Mexico
[4] Hosp Infantil Mexico Dr Federico Gomez, Lab Invest Nefrol & Metab Mineral Oseo, Mexico City, DF, Mexico
来源：
BOLETIN MEDICO DEL HOSPITAL INFANTIL DE MEXICO | 2015年 / 72卷 / 03期
关键词：
Vitamin D dependent type I rickets; 1; alpha; 25-dihydroxy-vitamin D-3 selective deficiency; 25(OH) D3-1 alpha-hydroxylase; Rickets;
D O I：
10.1016/j.bmhimx.2015.03.008
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Background: Vitamin D dependent rickets type I is a rare hereditary disease due to a mutation in CYP27B1 encoding the 1 alpha-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 D-3. 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. (C) 2015 Published by Masson Doyma Mexico S.A. on behalf of Hospital Infantil de Mexico Federico Gomez.
引用
收藏
页码：190 / 194
页数：5
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