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目的 提高对假性甲状旁腺机能减退症 (PHP)的认识和诊断。方法 发现PHP先证者后 ,对其家族进行了调查。该家族共 4代 6例患者 ,男 4例 (死亡 2例 ) ,女 2例。现存 4例年龄最大者 5 5岁 ,最小者 8岁。 6例均经临床生化证实 ,选择 2例摄取手平片和头颅CT片。结果 6例均有典型的Albright遗传性骨营养不良症体型、短指 (趾 )畸形。 2例行X线检查者表现为掌、指骨粗短 ,颅骨增厚、基底节区呈对称性钙化。结论 影像学表现与临床特点相结合 ,可对PHP做出明确诊断。
Objective To improve understanding and diagnosis of pseudohypoparathyroidism (PHP). Method After discovering PHP proband, his family was investigated. The family of 4 generations of 6 patients, 4 males (2 deaths), 2 females. The oldest 4 cases of the oldest 5 5 years old, the youngest 8 years old. 6 cases were confirmed by clinical biochemistry, 2 cases were selected hand plain film and cranial CT film. Results All the 6 cases had typical Albright hereditary osteodystrophy type, short toe deformity. 2 routine X-ray examination showed palms, phalanges short, thickening of the skull, basal ganglia showed symmetrical calcification. Conclusion The combination of imaging findings and clinical features can make a clear diagnosis of PHP.