以先天性甲状腺功能减退为首发症状的假性甲状旁腺功能减退症临床家系分析

Clinical pedigree analysis of pseudohypoparathyroidism with the first symptom being congenital hypothyroidism

目的探讨假性甲状旁腺功能减退症(PHP)Ia型的发病机制、临床特点及治疗。方法回顾分析1例PHP Ia型患儿及其家族成员的临床及遗传学资料。结果患儿以先天性甲状腺功能减退为首发症状,后逐渐表现出Albright遗传性骨营养不良症(AHO)、低钙、高磷、对甲状旁腺激素抵抗的症状,给予骨化三醇及钙剂治疗后,血钙、磷接近正常,但AHO畸形无明显变化。结论 PHP合并先天性甲状腺功能减退较为罕见。

Objective To explore the pathogenesis,clinical characteristics and treatment of pseudohypoparathyroidism(PHP)Ia.Method The clinical and genetic data of PHP Ia in a child and her family members were retrospectively analyzed.Results The child had congenital hypothyroidism as first symptom,and then gradually had Albright hereditary osteodystrophy(AHO),low calcium,high phosphorus and resistance to parathyroid hormone.After treatment with calcitriol and calcium,blood calcium and phosphorus were close to normal,but there was no significant change in AHO malformation.Conclusion PHP combined with congenital hypothyroidism is rare.