21-羟化酶缺乏症

21-羟化酶缺乏症
又称21-OH CAH
症状雄激素过多和皮质类固醇缺乏
患病率从 1:18000 到 1:14,000(经典型)
从 1:1000 到 1:50(非经典型)
分类和外部资源
醫學專科內分泌學
ICD-10E25.0
OMIM201910
DiseasesDB1854
Orphanet90794
[编辑此条目的维基数据]

21-羟化酶缺乏症(英語:21-OHD)是一种罕见的常染色体隐性遗传病[1]该疾病会导致21-羟化酶缺乏,从而导致肾上腺前体皮质醇的缺陷转化,最终形成先天性肾上腺增生症。同时,21-OHD还有可能引起严重的低钠血症高钾血症,同时在一些情况下导致醛固酮缺乏。[2]而依据21-羟化酶残留活性差异,21-OHD在临床上可分为失盐型、单纯男性化型及非经典型。[3]

病因

有部分研究表明,21-羟化酶存在于人类白细胞抗原复合体Ⅲ内,而该部分基因较为复杂,基因的长度和复杂性导致该部分基因存在较大的变异性[4],其中,在CYP21A2基因约30kb处有一个非功能的假基因CYP21A1P,假基因CYP21A1P因存在插入、缺失和点突变等多个致病变异而阻止了21-羟化酶的合成,从而导致了21-羟化酶缺乏症。[5][6][7]

外部链接

参考资料

  1. ^ 杨, 轶淇. 42例21-羟化酶缺乏症临床特征及血脂分析. 2022 [2024-02-15]. doi:10.27200/d.cnki.gkmlu.2022.000416. (原始内容存档于2024-02-15). 
  2. ^ Calabria, Andrew. 由21-羟化酶缺乏引起的先天性肾上腺增生. 默沙东诊疗手册. 2022-08 [2024-02-15]. (原始内容存档于2024-02-15) –通过默沙东诊疗手册 (中文). 
  3. ^ 陈晓波; 高亢. 21-羟化酶缺乏症诊治新进展. 中华实用儿科临床杂志. 2019 [2024-02-15]. doi:10.3760/cma.j.issn.2095-428X.2019.20.002. 
  4. ^ PARAJES S,QUINTEIRO C,DOMÍNGUEZ F,et al.High frequency of copy number variations and sequence variants at CYP21A2 locus:implication for the genetic diagnosis of 21-hydroxylase deficiency[J].PLo S One,2008,3(5):e2138.
  5. ^ BLANCHONG C A,ZHOU B,RUPERT K L,et al.Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX(RCCX) modules in caucasians.The load of RCCX genetic diversity on major histocompatibility complex-associated disease[J].J Exp Med,2000,191(12):2183-2196.
  6. ^ KOPPENS P F J,HOOGENBOEZEM T,DEGENHART H J.Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency:characteristics of three unusual haplotypes[J].Hum Genet,2002,111(4/5):405-410.
  7. ^ 吕拥芬; 李嫔. 21-羟化酶缺乏症的分子诊断及临床意义. 上海交通大学学报(医学版): 557-561 –通过知网. 

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