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目的通过对22例确诊精氨酸加压素2型(AVPR2)基因突变的遗传性肾性尿崩症患者的临床特点进行总结,分析基因型与临床表型之间的相关性。方法收集22个家系及其成员病史及外周血标本,通过生化检查、磁共振影像和AVPR2基因的聚合酶链式反应,确诊为X-连锁隐性遗传性肾性尿崩症。结果 22例先证者均为男性,其确诊年龄为(15.6±1.9)岁,病程(14.5±1.9)年,尿量为(10 L/24 h),61.9%的患者出现泌尿系并发症。共筛查到18个突变位点共5种突变类型,其中包括5个国际上尚未报道的新发突变位点:c.752_780delCGCCGGACAGGCAGCCCCGGTGAGGGAGC(R251PfsX96),c.349 T>G(Y117D),c.500 C>G(S167W),c.938T>G(L313R),c.1007 T>C(L336P)。结论 X-连锁隐性遗传性肾性尿崩症患者多早期发病,烦渴、多饮、多尿及低比重尿为其主要临床表现,半数患者出现病程相关的泌尿系并发症,大部分患者对间断的噻嗪类利尿剂+阿米洛利联合使用疗效较好。基因检测手段对该病的诊断提供了有利依据,并可进一步指导优生优育。
Objective To summarize the clinical features of 22 cases of hereditary nephropecrerosis patients diagnosed with arginine vasopressin type 2 (AVPR2) gene mutation and to analyze the relationship between genotype and clinical phenotype. Methods The medical records and peripheral blood samples of 22 pedigrees and their members were collected and confirmed as X-linked recessive hereditary renal diabetes insipidus by biochemical tests, MR images and the polymerase chain reaction of the AVPR2 gene. Results All 22 probands were male, with a mean age of (15.6 ± 1.9) years, duration of disease (14.5 ± 1.9) years, urine output of (10 L / 24 h) and urinary complications of 61.9%. A total of 18 mutation sites were screened for a total of five types of mutations, including five newly reported non-international mutation sites: c.752_780delCGCCGGACAGGCAGCCCCGGTGAGGGAGC (R251PfsX96), c.349T> G (Y117D), c.500 C> G (S167W), c.938T> G (L313R), c.1007 T> C (L336P). Conclusion X-linked recessive hereditary nephrogenic diabetes insipidus patients with early onset, polydipsia, polyhydration, polyuria and low specific gravity of urine as its main clinical manifestations, half of the patients with disease-related complications of the urinary tract, the majority of patients The intermittent thiazide diuretic + amiloride combined effect is better. Genetic testing means to provide a good basis for the diagnosis of the disease, and can further guide prenatal and postnatal care.