中华内分泌代谢杂志
中華內分泌代謝雜誌
중화내분비대사잡지
CHINESE JOURNAL OF ENDOCRINOLOGY AND METABOLISM
2014年
11期
980-984
,共5页
陈瑞敏%袁欣%张莹%杨晓红%林祥泉
陳瑞敏%袁訢%張瑩%楊曉紅%林祥泉
진서민%원흔%장형%양효홍%림상천
先天性类脂质性肾上腺增生症%类固醇急性调控蛋白%序列分析
先天性類脂質性腎上腺增生癥%類固醇急性調控蛋白%序列分析
선천성류지질성신상선증생증%류고순급성조공단백%서렬분석
Congenital lipoid adrenal hyperplasia%Steroid acute regulatory protein%Sequence analysis
目的 分析一例先天性类脂质性肾上腺增生症(CLAH)患儿的临床特点,并对其核心家庭类固醇急性调控蛋白(StAR)基因突变进行分析.方法 收集1例11月龄CLAH患儿临床资料,并对患儿及其父母外周血白细胞StAR基因的7个外显子进行PCR扩增和DNA直接测序.结果 患儿皮肤黝黑,女童外阴,双侧腹股沟处各扪及一1.0cm×1.0cm肿块.ACTH 253 pg/ml,8∶00皮质醇27.6 nmol/L.超声显示双侧腹股沟探及睾丸声像.染色体核型分析:46,XY.PCR扩增片段直接测序显示StAR基因存在双重杂合突变c.229C＞T,p.(Gln77X);c.659A＞G,p.(His220Arg).予纠正电解质紊乱、氢化可的松、9α氟氢可的松等治疗,随访至今患儿病情稳定.结论 本病例具有典型的临床表现,其StAR基因存在双重杂合突变,其中c.659A＞G,p.(His220Arg)至今尚未见报道,为新发现的基因突变位点.
目的 分析一例先天性類脂質性腎上腺增生癥(CLAH)患兒的臨床特點,併對其覈心傢庭類固醇急性調控蛋白(StAR)基因突變進行分析.方法 收集1例11月齡CLAH患兒臨床資料,併對患兒及其父母外週血白細胞StAR基因的7箇外顯子進行PCR擴增和DNA直接測序.結果 患兒皮膚黝黑,女童外陰,雙側腹股溝處各捫及一1.0cm×1.0cm腫塊.ACTH 253 pg/ml,8∶00皮質醇27.6 nmol/L.超聲顯示雙側腹股溝探及睪汍聲像.染色體覈型分析:46,XY.PCR擴增片段直接測序顯示StAR基因存在雙重雜閤突變c.229C＞T,p.(Gln77X);c.659A＞G,p.(His220Arg).予糾正電解質紊亂、氫化可的鬆、9α氟氫可的鬆等治療,隨訪至今患兒病情穩定.結論 本病例具有典型的臨床錶現,其StAR基因存在雙重雜閤突變,其中c.659A＞G,p.(His220Arg)至今尚未見報道,為新髮現的基因突變位點.
목적 분석일례선천성류지질성신상선증생증(CLAH)환인적림상특점,병대기핵심가정류고순급성조공단백(StAR)기인돌변진행분석.방법 수집1례11월령CLAH환인림상자료,병대환인급기부모외주혈백세포StAR기인적7개외현자진행PCR확증화DNA직접측서.결과 환인피부유흑,녀동외음,쌍측복고구처각문급일1.0cm×1.0cm종괴.ACTH 253 pg/ml,8∶00피질순27.6 nmol/L.초성현시쌍측복고구탐급고환성상.염색체핵형분석:46,XY.PCR확증편단직접측서현시StAR기인존재쌍중잡합돌변c.229C＞T,p.(Gln77X);c.659A＞G,p.(His220Arg).여규정전해질문란、경화가적송、9α불경가적송등치료,수방지금환인병정은정.결론 본병례구유전형적림상표현,기StAR기인존재쌍중잡합돌변,기중c.659A＞G,p.(His220Arg)지금상미견보도,위신발현적기인돌변위점.
Objective To analyze the clinical characteristic s of an infant with congenital lipoid adrenal hyperplasia (CLAH),and to sequence the acute regulatory protein (steroid acute regulatory,StAR) gene of the infant patient and her pedigree.Methods Physical examination,laboratory tests,and imaging examination of the 11-month-old patient with CLAH were collected.DNA was extracted from blood samples of the patient and her parents.The 7 exons of StAR gene were amplified by PCR and then sequenced.Results Dark skin,girl vulva,and one each 1.0 cm×1.0 cm palpable lump in inguinal area bilaterally were observed.The adrenocorticotropic hormone (ACTH) was 253 pg/ml,cortisol was 27.6 nmol/L at 8 am,17-hydroxyprogesterone was 3 nmol/L.Uhrasound showed that sign of testicular ultrasonography existed in bilateral inguinal regions.Karyotype analysis showed 46,XY.Sequencing of PCR amplified fragments showed that there were two heterozygous mutations c.229C ＞ T,p (Gln77X) and C.659A＞G,p (His220Arg) of StAR gene in this patient.By rectifying the disturbance of electrolyte,and treating with hydrocortisone and 9α fludrocortisone,etc,the patient has been stable so far.Conclusion The patient presents typical clinical manifestations.Two heterozygous mutations including c.229C ＞T,p (Gln77X) from maternal and C.659A＞G,p (His220Arg) from paternal of StAR gene were detected.Wherein the c.659A＞G,p.(His220Arg) as a novel point mutation of StAR gene,has not been reported so far.
