CAJ | 학술논문

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。
목적：총결가성갑상방선공능감퇴（PHP）Ⅰa형림상특점，병탐토기분자발병궤제。방법수집림상자료，추취선증자급가계성원외주혈，통과PCR확증여직접측서검측GNAS기인。결과3례선증자림상표현급실험실검사균부합PHP-Ⅰa형，가계성원무이상표현。기인측서발현2개SNP위점，분별위우제이외현자c.212A＞C（p.E71D），제오외현자c.393C＞T（p.I131I）。결론가성갑상방선공능감퇴교한견，단근거실험실검사결과급림상특점，가여원발성전간상감별，감소오진솔。PHP-Ⅰa형분자유전궤제상수진일보탐토。
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.212A>C (p.E71D), GNAS c.393C>T (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.