Hereditary vitamin D rickets: a case series in a family

被引：5

作者：

Surender, Kumar ^{[1
]}

Kochar, I. P. S. ^{[1
]}

Ahmad, Ayesha ^{[2
]}

Kapoor, Meenal ^{[1
]}

机构：

[1] Indraprastha Apollo Hosp, Apollo Ctr Adv Pediat, Div Endocrinol, New Delhi 110044, India

[2] Aligarh Muslim Univ, JN Med Coll & Hosp, Dept Pediat, Aligarh, Uttar Pradesh, India

来源：

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2014年 / 27卷 / 11-12期

关键词：

alopecia; autosomal recessive; 1 alpha,25-dihydroxyvitamin D3 (1,25D3); hereditary vitamin D-resistant rickets (HVDRR); D-RESISTANT RICKETS; D-DEPENDENT RICKETS; D-RECEPTOR; HAIRLESS GENE; ALOPECIA; 1,25-DIHYDROXYVITAMIN-D; MUTATIONS; THERAPY;

D O I：

10.1515/jpem-2013-0448

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by end-organ resistance to 1 alpha,25-dihydroxyvitamin D3 (1,25D3). Clinically, the syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, and often alopecia. Here, we report a case series on three siblings who had HVDRR with varied clinical findings.

引用

页码：1217 / 1222

页数：6

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