難治性高血壓-基因與遺傳背景-資料下載頁(yè)
2024-09-28 08:30本頁(yè)面
【導(dǎo)讀】除外近期確診的高血壓、未接受治療的高血壓，后，血壓仍>140/90毫米汞柱,或糖尿病、腎病患者仍高于130/80毫米汞柱；以診斷為難治性高血壓。在難治性高血壓當(dāng)中，繼發(fā)性高血壓比我們想象的多；三級(jí)甲等醫(yī)院4429例難治性高血壓中%為繼發(fā)性高。青年頑固性高血壓有40%能找到原因，解除病因，免得終生服藥。的高血壓，糖皮質(zhì)素抵抗，腎上腺：皮質(zhì)：GRA，11βHSD2. 為常染色體顯性遺傳疾病，MR的皮質(zhì)酮，也可結(jié)合并激活突變的鹽皮質(zhì)激素受體。懷孕后體內(nèi)孕酮可升。高100倍，因而妊娠后MR突變攜帶者高血壓加重惡化。
【正文】 抗劑 阿米洛利 或三甲阿番 Familial hyperaldosteronism type II (FH II) ? similar to GRA (FH I) in that excess mineralocorticoid production is responsible for the development of hypertension, but the hypertension is not suppressible by dexamethasone. ? Autosomal dominant inheritance suggests that FH II is due to a single gene mutation and, although the gene has not been identified, the locus has recently been narrowed to a band on chromosome 7 ? Many patients with FH II have a family history of adrenal hyperplasia or adenoma, which suggests that a growth factor may be involved. ? Widened criteria for screening have revealed FH II to be more mon than previously believed, and it may be the most mon inherited type of hypertension in adults. However, although reninaldosterone abnormalities have been reported in affected adolescents, hypertension due to FH II typically does not manifest until adulthood. ? FH II is clinically and biochemically indistinguishable from noninherited primary aldosteronism, and currently, the diagnosis can be only confirmed by positive family history until geic detection is available. Congenital adrenal hyperplasia ? Defects in 11hydroxylase and 17hydroxylase result in overproduction of 21hydroxylated steroids, which activate 。 ? The hypertension responds to treatment with an MR antagonist. ? Note that the most mon type of congenital adrenal hyperplasia, 21hydroxylase deficiency, is an Nalosing state and does not cause hypertension. Familial glucocorticoid resistance ? 病因：唐皮質(zhì)類(lèi)固醇受體突變？ ? Diagnosis of this rare disorder rests of documentation of markedly elevated plasma cortisol levels. ? The hypertension responds to MR blockade. 繼發(fā)高血壓 發(fā)病年齡 血漿腎素活性 醛固酮 K＋ 遺傳方式 致病基因 糖皮質(zhì)激素可以抑制的醛固酮增多癥 20－ 30 ↓ ↑ ↓ 常染色體顯性 CYP11B2和CYP11B1的嵌合基因 Liddle 30 ↓ ↓ ↓ 常染色體顯性 SCNN1B, SCNN1G 類(lèi)皮質(zhì)醇過(guò)多癥 兒童 或成人 ↓ ↓ ↓ 常染色體陰性 11βHSD2 鹽皮質(zhì)類(lèi)固醇受體基因突變 20或 30 ↓ ↓ ↓ 常染色體顯性 MR Gordon 20或 30 ↓ ↓/ ↑ 常染色體顯性 WNK WNK4 先天性腎上腺增生 兒童或青春期 ↓ ↓/ ↓/ 常染色體陰性 CYP11B1 CYP17 基因突變（ 10個(gè)）引起的繼發(fā)性高血壓 第三組：嗜鉻細(xì)胞瘤（ 2030%遺傳有關(guān)） 9個(gè)基因突變 謝謝
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