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作者报告一家族90名成员中40人患有此症,遗传五代,认为系一新病种,并命名为家族性膨胀性溶骨症。主要特点是:①幼年即发生齿牙脱落和听力丧失;②骨病起于第二个十年;③骨病变主要累及肢体,下肢多于上肢,以胫骨和桡骨居多,一般不侵及颅骨和骨盆;④X线表现为进行性骨吸收和髓腔膨胀。常为多发病变,新病灶陆续出现,不跨越关节,不累及软组织;⑤血清碱性磷酸酶和尿内羟脯氨酸升高;⑥病理改变以破骨为主伴有成骨不良,后者认为与骨形成有关的酶先天缺陷所致。此症曾被诊为许多种骨发育不良和骨疾患。从家族遗
The authors report that 40 of a family of 90 members have this disease, inherited five generations, and considered it a new disease class, and named it familial dilatational osteolysis. The main features are: 1 tooth loss and hearing loss occur in childhood; 2 bone disease occurs in the second decade; 3 bone lesions mainly affect the limbs, lower limbs than the upper limbs, mostly sacrum and sacrum, generally do not invade the skull and The pelvis; 4X line showed progressive bone resorption and medullary cavity expansion. Often multiple lesions, new lesions appear one after another, do not cross the joints, not involving the soft tissue; 5 serum alkaline phosphatase and elevated hydroxyproline in the urine; 6 pathological changes mainly to osteopenic osteopenia with poor, the latter It is believed that the intrinsic defect of the enzyme related to bone formation is caused. The disease has been diagnosed with many types of bone dysplasia and bone disorders. From the family