假性甲状旁腺功能减退症Ⅰa型临床与基因分析  

Clinical study and genetic analysis of pseudohypoparathyroidism type Ⅰa

作　　者：陈燕燕[1] 孙晓方[1] 袁鹰[1] 

机构地区：[1]青岛大学医学院附属医院内分泌科,山东省266003

出　　处：《中华临床医师杂志（电子版）》2014年第4期6-9,共4页Chinese Journal of Clinicians(Electronic Edition)

摘　　要：目的总结假性甲状旁腺功能减退(PHP)Ⅰa型临床特点,并探讨其分子发病机制。方法收集临床资料,抽取先证者及家系成员外周血,通过PCR扩增与直接测序检测GNAS基因。结果 3例先证者临床表现及实验室检查均符合PHP-Ⅰa型,家系成员无异常表现。基因测序发现2个SNP位点,分别位于第二外显子c.212A>C(p.E71D),第五外显子c.393C>T(p.I131I)。结论假性甲状旁腺功能减退较罕见,但根据实验室检查结果及临床特点,可与原发性癫痫相鉴别,减少误诊率。PHP-Ⅰa型分子遗传机制尚需进一步探讨。Objective To summarize the clinical features and analyze the molecular genetic pathogenesis of pseudohypoparathyroidism type Ⅰa（PHP-Ⅰa）. Methods We collected the clinical data and the peripheral blood of the patients of PHP-Ⅰa as well as their families, and all thirteen exons and the exon-intron boundaries of the GNAS gene were amplified by PCR. The mutations were identified by directional sequencing of the PCR products. Results The clinical manifestations and laboratory tests of these patients were both conformed to the diagnostic criteria of PHP-type Ⅰa, but their family members had no abnormal performance. We found two single nucleotide polymorphisms of GNAS gene, which were located in the second as well as the fifth exon respectively： GNAS c.212AC（p.E71D）, GNAS c.393CT（p.I131I）. Conclusion PHP-Ⅰa is a very rare disease, however we can easily differentiate from idiopathic epilepsy by the results of laboratory tests and clinical features, then reduce the misdiagnosis rate. However we still need further study for the molecular genetic mechanism of PHP-type Ⅰa in the future.

关 键 词：低钙血症 甲状旁腺素 假性甲状旁腺功能减退 GNAS基因 

分 类 号：R582.2[医药卫生—内分泌]