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CYP27B1 基因突变导致哈巴狗的维生素 D 依赖性佝偻病。

Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs.

机构信息

Department of Clinical Sciences, Swedish University of Agricultural Science, Uppsala, Sweden.

Anicura Albano Small Animal Hospital, Danderyd, Sweden.

出版信息

J Vet Intern Med. 2023 Jul-Aug;37(4):1507-1513. doi: 10.1111/jvim.16791. Epub 2023 Jun 9.

Abstract

Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. Here, related pugs from 2 litters were included. Three pugs had clinical signs including, lameness, bone deformities, and dyspnea. One other pug was found dead. Radiographs of 2 affected pugs, 5 and 6 months old, showed generalized widening, and irregular margination of the physes of both the appendicular and the axial skeleton with generalized decrease in bone opacity and bulbous swelling of the costochondral junctions. Two pugs had low serum calcium and 1,25 (OH) D concentrations. Test results further indicated secondary hyperparathyroidism with adequate concentrations of 25-hydroxyvitamin D. Necropsy revealed tongue-like projections of cartilage extending into the metaphysis consistent with rickets, loss of metaphyseal mineralization and lung pathology. Vitamin D-dependent rickets was diagnosed. A truncating mutation in the 1α-hydroxylase gene (CYP27B1) was identified by genome sequence analysis of the pugs with VDDR type 1A. Vitamin D-dependent rickets type 1A can occur in young pugs, and if left untreated is a life-threatening condition. Early medical intervention can reverse clinical signs and should be instituted as soon as possible.

摘要

佝偻病是一种骨骼发育疾病,可能由饮食或遗传原因导致。本研究纳入了两窝相关的哈巴狗。三只哈巴狗出现了临床症状,包括跛行、骨骼畸形和呼吸困难。另一只哈巴狗被发现死亡。两只 5 月龄和 6 月龄患病哈巴狗的 X 光片显示,四肢和脊柱的骺板普遍增宽,边缘不规则,骨密度普遍降低,肋软骨结合处呈球状肿胀。两只哈巴狗的血清钙和 1,25(OH)D 浓度较低。检测结果进一步表明存在继发性甲状旁腺功能亢进症,25-羟维生素 D 浓度充足。尸检显示软骨呈舌状突入骺板,符合佝偻病的表现,骺板矿化丧失和肺部病变。诊断为维生素 D 依赖性佝偻病。通过对 1A 型 VDDR 犬的基因组序列分析,发现了 1α-羟化酶基因(CYP27B1)的截断突变。1A 型维生素 D 依赖性佝偻病可发生于年轻的哈巴狗中,如果不治疗,会危及生命。早期的医学干预可以逆转临床症状,应尽快进行。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b383/10365047/69537f280098/JVIM-37-1507-g004.jpg

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