【摘要】：目的探討同胞共患先天性腎上腺皮質(zhì)增生癥(17α羥化酶缺乏)的臨床特點(diǎn)及基因突變。方法回顧分析確診的2例17α羥化酶缺乏癥姐妹患兒臨床資料,以及CYP17A1基因Sanger測(cè)序及MLPA檢測(cè)結(jié)果。結(jié)果 2例患兒分別于4歲及10歲確診,均有感染后低血鉀,高促性腺激素性性腺功能減退表現(xiàn)。1例血壓偏高。血鉀1.9~4.0 mmol/L,17羥孕酮及脫氫表雄酮降低,增強(qiáng)CT提示腎上腺有不同程度的增粗。姐姐染色體為46,(XY)。2例患兒基因結(jié)果顯示CYP 17A 1基因復(fù)合雜合突變,即來自父源的c.985_987 del TACins AA突變及母源的CYP 17A 1基因外顯子1-7區(qū)域雜合缺失。結(jié)論先天性腎上腺皮質(zhì)增生癥(17α羥化酶缺乏)可在青春期前被發(fā)現(xiàn),當(dāng)臨床出現(xiàn)不明原因低血鉀及高血壓,需要考慮本病可能。基因檢查可以幫助診斷。
[Abstract]:Objective to investigate the clinical characteristics and gene mutation of congenital adrenal cortical hyperplasia (17 偽 -hydroxylase deficiency) in siblings. Methods the clinical data of 2 children with 17 偽 -hydroxylase deficiency were retrospectively analyzed, and the results of Sanger sequencing and MLPA detection of CYP17A1 gene were analyzed. Results two cases were diagnosed at the age of 4 and 10 respectively, all of them had hypokalemia and hypogonadotropin hypogonadism after infection, and 1 case had high blood pressure. The decrease of serum potassium at 4.0 mmol/L,17 of hydroxyprogesterone and dehydroepiandrosterone showed that the adrenal gland was thickened by enhanced CT. There were 46 sister chromosomes, and the results of 2 cases of (XY). Showed that the CYP 17A1 gene had compound heterozygosity, I. e., c.985987 del TACins AA mutation from the father source and 1-7 region heterozygosity deletion of the exon 1-7 of the CYP 17A1 gene from the mother. Conclusion congenital adrenocortical hyperplasia (17 偽 -hydroxylase deficiency) can be found before puberty. Genetic tests can help in diagnosis.
【作者單位】： 首都兒科研究所內(nèi)分泌科;
【分類號(hào)】：R725.8

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