Orthopaedic Surgery, Maastricht University Medical Centre+, Maastricht, The Netherlands.
Orthopaedics, Saint John of God Hospital, Duayaw Nkwanta, Ghana.
BMJ Paediatr Open. 2021 Apr 22;5(1):e001052. doi: 10.1136/bmjpo-2021-001052. eCollection 2021.
The objective of this study is to study familial inheritance for Blount disease to create better understanding of the aetiology of Blount disease.
After reviewing patient files and conventional roentgenologic imaging, 139 patients with Blount disease were included in this cross-sectional study, of which 102 patients were interviewed. During the interviews, patient characteristics and family history were collected. Blood samples were taken from five patients and three families and a whole exome sequencing was performed.
Although patients came from all over the country, 90% of the patients belonged to the Akan tribe. A positive family history was found in 63 families (62%), of which, almost two-third had a positive family history in a first-degree family member. In most of the cases (64%), the varus legs resolved over time. In 9%, severe bowing remained 'just like the patient'. The results of the whole exome sequencing did not show a genetic predisposition.
This study describes a large group of Blount patients. Because of the high numbers of positive family history and the centralisation of patients in the Akan region, a familial predisposition is suggested. Further genetic research is essential for better understanding of the possible multifactorial aetiology in Blount disease.
本研究旨在探讨 Blount 病的家族遗传情况，以加深对 Blount 病病因的理解。
通过回顾患者病历和常规 X 线影像学资料，纳入了 139 例 Blount 病患者进行横断面研究，其中对 102 例患者进行了访谈。访谈中收集了患者特征和家族史信息。从 5 名患者和 3 个家系中采集了血样，并进行了全外显子组测序。
虽然患者来自全国各地，但 90%的患者属于 Akan 部落。63 个家系（62%）有阳性家族史，其中近三分之二的阳性家族史来自一级亲属。在大多数情况下（64%），内翻的腿会随着时间的推移而自行矫正。9%的病例则存在严重的弯曲畸形，“和患者一样”。全外显子组测序的结果未显示遗传易感性。
本研究描述了一大群 Blount 病患者。由于阳性家族史的数量较多，且患者集中在 Akan 地区，因此提示存在家族易感性。进一步的遗传研究对于更好地理解 Blount 病可能的多因素病因至关重要。
