背景:HajduCheney综合征(HCS)是一种罕见的遗传性疾病,其特征是骨骼畸形,例如肢端骨溶解,骨质疏松,独特的颅面特征,和其他系统性异常。这种综合征是由NOTCH2基因突变引起的,这导致破骨细胞和成骨细胞活性增加,导致骨吸收增加。由于这种综合征非常罕见,而且症状模糊,早期诊断可能很有挑战性。
方法:我们报告一例患有HCS的女性儿童,该儿童具有新的NOTCH2突变序列;(NM_024408.3:c.6463G>T)蛋白质变化(Glu2155*),据我们所知,这是叙利亚首例报告和诊断的病例。她身材矮小,独特的颅面特征,脊柱侧弯,后凸畸形,和骨质疏松症的迹象,除了动脉导管专利。病人被诊断为HajduCheney综合症,并服用唑立膦酸,她对治疗反应良好;显示出骨密度改善和身高改善的迹象,骨密度从0.23提高到0.31,治疗后身高增加了11厘米。
结论:由于该综合征的罕见性,目前尚无既定的治疗指南.根据导致骨吸收增加的综合征的病理生理学,双膦酸盐组的治疗产生了积极的结果。此外,我们将文献中的不同治疗方法与结果进行了比较。
BACKGROUND: Hajdu Cheney Syndrome (HCS) is a rare genetic disorder characterized by skeletal deformities such as acroosteolysis, osteoporosis, unique craniofacial features, and other systemic abnormalities. This syndrome is caused by NOTCH2 gene mutations, which cause an increase of osteoclast and osteoblast activity that leads to the increased bone resorption. Because of how rare the syndrome is and the vague onset of the symptoms, it can be challenging to make an early diagnosis.
METHODS: We report a
case of a female child with HCS who has a new NOTCH2 mutation sequence; (NM_024408.3:c.6463G > T) protein change (Glu2155*), and to our knowledge this is the first reported and diagnosed
case in Syria. She presents with short stature, unique craniofacial features, scoliosis, kyphosis, and signs of osteoporosis, in addition to Patent Ductus Arteriosus. The patient was diagnosed with Hajdu Cheney Syndrome, and administered zolidronic acid, and she responded well to the treatment; showing signs of improved bone density and improvement in height, where her bone density improved from 0.23 to 0.31, and she gained 11 cm in height after the treatment.
CONCLUSIONS: Due to the rarity of the syndrome, there is no established guideline for treatment yet. Based on the pathophysiology of the syndrome that causes increased bone resorption, treatment with the Bisphosphonates group has yielded positive outcomes. Furthermore, we compare different treatments in the literature with their results.