巴基斯坦出现的伴有PHEX基因突变的X连锁低磷性骨软化症，发病较晚。
X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan.
作者信息
Zehra Nawazish, Jafri Lena, Kirmani Salman, Khan Aysha Habib
机构信息
Department of Pathology and Laboratory Medicine, Pakistan.
Department of Pediatric and Child Health Aga Khan University, Karachi, Pakistan.
出版信息
Ann Med Surg (Lond). 2021 Jan 22;62:244-248. doi: 10.1016/j.amsu.2021.01.067. eCollection 2021 Feb.
ABSTRACTINTRODUCTIONANDIMPORTANCE
Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons.
CASE PRESENTATION
We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth.
CLINICAL DISCUSSION
A detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the phosphate regulating gene on PHEX, that causes reduced mineralization of bones and teeth.
CONCLUSION
Diagnostic delay in this patient resulted in increased disabilities affecting her mobility and lif estyle.
摘要
引言与重要性
常染色体显性低磷性佝偻病是罕见佝偻病最常见的形式，通常在儿童期出现，但有时由于治疗医生或外科医生缺乏相关知识和/或意识，病情仍未得到诊断。
病例介绍
我们描述了一名43岁女性的病例，她自童年起就有多处脆性骨折，接受了手术矫正，但从未进行过检查。她身材矮小，有弓形畸形和牙齿脱落。
临床讨论
详细的病史、检查以及代谢和基因检查最终确诊为X连锁低磷性骨软化症。其病理生理涉及PHEX上磷酸盐调节基因的突变或缺失，导致骨骼和牙齿矿化减少。
结论
该患者的诊断延迟导致残疾增加，影响了她的活动能力和生活方式。
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