中华骨质疏松和骨矿盐疾病杂志
中華骨質疏鬆和骨礦鹽疾病雜誌
중화골질소송화골광염질병잡지
CHINESE JOURNAL OF OSTEOPOROSIS AND BONE MINERAL RESEARCH
2015年
2期
152-155
,共4页
假性甲状旁腺功能减退症Ia型%甲状腺功能减退症%GNAS基因
假性甲狀徬腺功能減退癥Ia型%甲狀腺功能減退癥%GNAS基因
가성갑상방선공능감퇴증Ia형%갑상선공능감퇴증%GNAS기인
pseudohypoparathyroidism type Ia%hypothyroidism%GNAS gene
1例14岁男性假性甲状旁腺功能减退症Ⅰa型合并原发性甲状腺功能减退症患者自幼起病，主要临床表现为AHO体型与掌骨征、反复抽搐和皮下与脑组织多发钙化，同时合并原发性甲状腺功能减退症。既往按照甲状腺功能减退症治疗。实验室检查示低钙血症、高磷血症、游离甲状腺素（ FT4）降低而促甲状腺素（TSH）升高，基因测序发现GNAS基因c．833G＞A， p．（Trp278*）杂合，为已报道的致病突变，其父母无该基因突变。根据患者临床表现及基因测序结果，诊断假性甲状旁腺功能减退症Ⅰa型。
1例14歲男性假性甲狀徬腺功能減退癥Ⅰa型閤併原髮性甲狀腺功能減退癥患者自幼起病，主要臨床錶現為AHO體型與掌骨徵、反複抽搐和皮下與腦組織多髮鈣化，同時閤併原髮性甲狀腺功能減退癥。既往按照甲狀腺功能減退癥治療。實驗室檢查示低鈣血癥、高燐血癥、遊離甲狀腺素（ FT4）降低而促甲狀腺素（TSH）升高，基因測序髮現GNAS基因c．833G＞A， p．（Trp278*）雜閤，為已報道的緻病突變，其父母無該基因突變。根據患者臨床錶現及基因測序結果，診斷假性甲狀徬腺功能減退癥Ⅰa型。
1례14세남성가성갑상방선공능감퇴증Ⅰa형합병원발성갑상선공능감퇴증환자자유기병，주요림상표현위AHO체형여장골정、반복추휵화피하여뇌조직다발개화，동시합병원발성갑상선공능감퇴증。기왕안조갑상선공능감퇴증치료。실험실검사시저개혈증、고린혈증、유리갑상선소（ FT4）강저이촉갑상선소（TSH）승고，기인측서발현GNAS기인c．833G＞A， p．（Trp278*）잡합，위이보도적치병돌변，기부모무해기인돌변。근거환자림상표현급기인측서결과，진단가성갑상방선공능감퇴증Ⅰa형。
A case of pseudohypoparathyroidism type Ia patients with primary thypothyroidism was reported in the present study.The patient was a 14-year-old male, who was characterized as AHO stature with metacarpal syndrome, re-peated tetany, and multiple calcinosis ( in subcutaneous and brain) .He was also disnosed as congenital primary hypothy-roidism and treated with thyroid tablets followed by levothyroxine.The laboratory findings showed hypocalcaemia, hyper-phosphatemia, decreased FT4 with elevated TSH.A heterozygous mutation of c.833G>A, p.( Trp278*) in GNAS gene was detected in the patient, but not in his parents.
