2型布鲁克综合征患儿的表型变异：临床观察

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论证。布鲁克综合征是一种罕见的疾病，其症状是成骨不全症与严重的先天性关节挛缩、皮肤翼状胬肉、身材矮小、严重的肢体畸形和进行性脊柱侧弯相结合。它有两种类型，即布鲁综合征1型和2型，临床表现相似，为常染色体隐性遗传，分别由FKBP10和PLOD2基因中的致病核苷酸序列变异引起。

临床观察。本文展示了一名布鲁克综合征2型同胞的表型、影像学特征和实验室值：一名10岁的男孩和一名13岁的女孩，在近亲婚姻中由健康的父母所生。男孩有先天性膝关节和肘关节屈曲挛缩、少量骨折和严重的脊柱后凸。女孩没有先天性关节挛缩，但有脊柱后凸、更严重的骨质疏松症，与弟弟相比，她的骨折病史更多。

讨论。我们报告的病例显示了由PLOD2基因中新发现的同源变异C.1885a>G(p.Thr629Ala)引起的布鲁克2型综合征的显著表型家族内变异——不同程度的骨质疏松以及挛缩的存在和严重程度。

结论。本文回顾了临床观察结果，以引起人们对这一罕见病症的关注，并拓展医生对布鲁克综合征临床表现多变性的认识。为了及时诊断布鲁克综合征，确定疾病发展的预后，并为患者制定合理的治疗策略，需要进行分子遗传学研究。

作者简介

Svetlana I. Trofimova

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

编辑信件的主要联系方式.
Email: trofimova_sv2012@mail.ru
ORCID iD: 0000-0003-2690-7842
SPIN 代码: 5833-6770

MD, PhD, Cand. Sci. (Med.)

俄罗斯联邦, Saint Petersburg

Evgeniia A. Kochenova

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

Email: jsummer84@yandex.ru
ORCID iD: 0000-0001-6231-8450
SPIN 代码: 4346-5431

MD, PhD, Cand. Sci. (Med.)

俄罗斯联邦, Saint Petersburg

Olga E. Agranovich

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

Email: olga_agranovich@yahoo.com
ORCID iD: 0000-0002-6655-4108
SPIN 代码: 4393-3694

MD, PhD, Dr. Sci. (Med.)

俄罗斯联邦, Saint Petersburg

Dmitry S. Buklaev

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

Email: dima@buklaev.com
ORCID iD: 0000-0003-1868-3703
SPIN 代码: 4640-6856

MD, PhD, Cand. Sci. (Med.)

俄罗斯联邦, Saint Petersburg

Elena S. Merkuryeva

Research Centre for Medical Genetics

Email: elena.merkureva@gmail.com
ORCID iD: 0000-0001-6902-253X

MD, PhD student, geneticist

俄罗斯联邦, Moscow

Tatiana V. Markova

Research Centre for Medical Genetics

Email: markova@med-gen.ru
ORCID iD: 0000-0002-2672-6294
SPIN 代码: 4707-9184

MD, PhD, Cand. Sci. (Med.)

俄罗斯联邦, Moscow

参考

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  4. Bank RA, Robins SP, Wijmenga C, et al. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proc Natl Acad Sci USA. 1999;96(3):1054–1058. doi: 10.1073/pnas.96.3.1054
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  6. Moravej H, Karamifar H, Karamizadeh Z, et al. S. Bruck syndrome – a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation. Endokrynol Pol. 2015;66(2):170–174. doi: 10.5603/EP.2015.0024
  7. Van der Slot AJ, Zuurmond AM, Bardoel AF, Wijmenga C, et al. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. J Biol Chem. 2003;278(42):40967–40972. doi: 10.1074/jbc.M307380200
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  9. Richards S, Aziz N, Bale S, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. doi: 10.1038/gim.2015.30
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  12. Kelley BP, Malfait F, Bonafe L, et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011;26(3):666–672. doi: 10.1002/jbmr.250

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2. Fig. 1. Patient H, eight years old, Bruck syndrome, type 2: a, general view of the patient (does not walk); b, spine radiographs in anteroposterior and lateral projections: 10° frontal deviation of the spinal axis, wedge-shaped vertebrae; c, panoramic radiograph of the lower extremities in anteroposterior projection, varus-antecurvation deformity of the femurs; d, radiograph of the femurs in anteroposterior projection, intramedullary fixation with a telescopic rod

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3. Fig. 2. Patient H, 13 years old, Bruck syndrome, type 2: a, general view of the patient; b, anteroposterior and lateral radiographs of the spine: 40° right scoliotic deformity, 33° kyphosis, platyspondylia, and sacrococcygeal changes

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4. Fig. 3. Patient I, 4 years old, Bruck syndrome, type 2: a, general view of the patient; b, spine radiographs in anteroposterior and lateral projections: 45° kyphosis, decreased height, and wedge-shaped vertebrae; c, panoramic radiographs of the lower extremities in anteroposterior and lateral projections: varus-antecurvation deformity of the femur bones

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5. Fig. 4. Patient I, 10 years old, Bruck syndrome type 2: a, general view of the patient; b, anteroposterior and lateral projection radiographs of the spine: local pathologic kyphosis in the thoracic region, 45° with decreased height and wedge-shaped vertebral bodies, hyperlordosis in the lumbar region, and 26° left-sided scoliotic arch in the thoracolumbar region; c, panoramic radiograph of the lower extremities in the anteroposterior projection: intramedullary fixation of the femurs with telescopic rods

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