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

页码：190 / 194

页数：5

共 23 条

[1] Vitamin D-dependent rickets Type II with alopecia: two case reports and review of the literature
Al-Khenaizan, S
Vitale, P
[J]. INTERNATIONAL JOURNAL OF DERMATOLOGY, 2003, 42 (09) : 682 - 685
[2] Azemi Mehmedali, 2014, Mater Sociomed, V26, P68, DOI 10.5455/msm.2014.26.68-70
[3] A novel pathogenic mutation of the CYP27B1 gene in a patient with Vitamin D-dependent rickets type 1: A case report
Babiker A.M.I.
Al Gadi I.
Al-Jurayyan N.A.M.
Al Nemri A.M.H.
Al Haboob A.A.N.
Al Boukai A.A.
Al Zahrani A.
Habib H.A.
[J]. BMC Research Notes, 7 (1)
[4] VITAMIN-D-DEPENDENT RICKETS TYPE-II - RESISTANCE OF TARGET ORGANS TO 1,25-DIHYDROXYVITAMIN-D
BROOKS, MH
BELL, NH
LOVE, L
STERN, PH
ORFEI, E
QUEENER, SF
HAMSTRA, AJ
DELUCA, HF
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1978, 298 (18) : 996 - 999
[5] Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A
Durmaz, Erdem
Zou, Minjing
Al-Rijjal, Roua A.
Bircan, Iffet
Akcurin, Sema
Meyer, Brian
Shi, Yufei
[J]. CLINICAL ENDOCRINOLOGY, 2012, 77 (03) : 363 - 369
[6] Fraser D, N ENGL J MED
[7] Haussler MR, 1997, J ENDOCRINOL, V154, pS57
[8] A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A
Hu, Wei-Wei
Ke, Yao-Hua
He, Jin-Wei
Fu, Wen-Zhen
Wang, Chun
Zhang, Hao
Yue, Hua
Gu, Jie-Mei
Zhang, Zhen-Lin
[J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2014, 27 (3-4) : 335 - 341
[9] Kim Chan Jong, 2011, Korean J Pediatr, V54, P51, DOI 10.3345/kjp.2011.54.2.51
[10] Inactivating mutations in the 25-hydroxyvitamin D3 1α-hydroxylase gene in patients with pseudovitamin D-deficiency rickets
Kitanaka, S
Takeyama, K
Murayama, A
Sato, T
Okumura, K
Nogami, M
Hasegawa, Y
Niimi, H
Yanagisawa, J
Tanaka, T
Kato, S
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1998, 338 (10) : 653 - 661

← 1 2 3 →