家族性低血磷性抗维生素D佝偻病的临床和X线特征——附一家系6例报告  

Clinical and Roenigcnological Manifestations of Familial Hyphosphatemic Vitamin D Resistant Rickcts：A report of 6 patients in a family.

作　　者：司振忠[1] 田昭俭[1] 

机构地区：[1]胜利油田中心医院放射科,山东东营257034

出　　处：《中华临床医学杂志》2006年第5期3-6,共4页Chinese Journal of Clinical Practical Medicine

摘　　要：目的 探讨家族性低血磷性抗维生毒D佝偻病的临床和X线表现特征，以提高对家族性低血磷性抗维生素D佝偻病的认识和诊断水平。方法发现家族性低血磷性抗维生素D佝偻病先证者后，对其家族进行了调查。该家族共3代6例患者，男2例，女4例。年龄最大者66岁，最小者12岁。6例均经临床及实验室血生化检查证实，选择先证者及其母亲摄取颅骨、双手、胸腰椎、骨盆、双膝关节和双胫腓骨平片，分析其X线表现。结果本组病例的临床表现以（1）身材矮小：（2）双下肢弯曲畸形：（3）骨关节疼痛和低磷酸血症为主．X线表现有：（1）肢体弯曲畸形，双侧胫骨弓形弯曲，膝内翻或外翻呈“O”形或“X”形腿：（2）骨端膨大，关节面模糊伴囊变；（3）承重肢体出现Looser’s带及骨间隔；（4）儿童干骺短喇叭样膨大，干骺端毛刷征：（5）骨转换表现；（6）松质骨骨小梁粗疏．细疏或呈网状；（7）骨皮质松化；（8）椎体“双框征”，附件呈棉絮状改变；（9）髂骨翼骺下疏松带；（10）耻骨联合、骶髂关节毛刷征；（11）骨盆口三角状或变扁、变形；（12）多发性牙齿脱落。骨损害程度随年龄增长而进行性加重．男性患者较重。而女性患者多较轻微。结论X线表现与临床、生化特点相结合，可对家族性低血磷性抗维生素D佝偻病作出正确诊断。Objective To improve the recognition and diagnosis of familial hyphosphatemic vitamin D resistant rickets （FHVDRR）. Methods Six subjects （2 males and 4 females, ranged in age from 12 to 66 years ） with FHVDRR of 3 generations in one family were investigated and studied. All cases were proved by clinical biochemistry tests. Plain film of skull, hands, were performed in 2 selected patients, Results The clinical features were characterized by short stature, bowing deformity of the lower extremity, pain in bone and article and hypophosphatemia. The pathognornonic X-ray finding were： （1） Limb deformity bow tibia, gonyectyposis or gonycrotesis with ＂O＂ shaped or ＂X＂ shaped legs; （2） Enlargement of bone end, articular surface hazy with cytic degeneration; （3） Looser＇s zone and bony septum in lower limbs; （4） Flared metaphysis with brush change; （5） Signs of bone turn over; （6）Coarse or reticulated trabecula of cancellous bone： （7） Spongy transformation of cortical bone： （8） Double-framed vertebral body and cotton wool appendage signs; （9） Rarefied zone beneath epiphysis in ilium; （10） Brush appearance of symphysis pubis and sacroiliac joint; （11） Flat or triangle shaped pelvic outlet： （12）Multiple teeth droped. Osteomalacia and bone deformity have showed progressively and the severity of bone lesions in creased with age. Radiographic findings were more severe in men, Conclusion The diagnosis of FHVDRR can be established by close combination ofradiologic findings and clinical manifestations.

关 键 词：家族性低血磷性抗维生素D佝偻病 骨疾病 代谢性 放射摄影术 

分 类 号：R591.44[医药卫生—内科学]