Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.
复制标题
13个Gitelman综合征家系的特点及随访
DOI：
10.1007/s40618-018-0966-1
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发表时间：
2019-06
影响因子：
5.4
通讯作者：
Xu C
中科院分区：
文献类型：
--
作者：
Zhong F;Ying H;Jia W;Zhou X;Zhang H;Guan Q;Xu J;Fang L;Zhao J;Xu C
Gitelman综合征（GS）在临床上具有异质性。基因型和表型的相关性还没有很好地建立。尽管长期预后良好，但低钾血症很难治愈。目的分析13个GS家系所有成员的临床和遗传学特征以及治疗方法。方法纳入13个家系（86名成员，17名GS患者）。所有成员的症状和管理，实验室检查结果，和基因型-表型协会进行了analysed.ResultsThe平均年龄在发病和诊断分别为27.6 ± 10.2岁和37.9 ± 11.6岁。男性平均比女性年轻10岁，表现出更严重的低钾血症。检测到18个突变。通过生物信息学分析预测两个新的突变（p.W939X，p.G212S）是致病的。GS患者血压、血清K+、Mg 2+和24小时尿Ca 2+水平最低。尽管杂合子携带者的血压、血清K+和Mg 2+水平正常，但24小时尿Na+排泄量显著增加。在随访期间，只有41.2%的患者达到正常血清K+水平。超过80%的患者达到了正常的Mg 2+水平。患者服用2-3种药物，剂量高于常规处方，以稳定其K+水平。6例患者同时服用螺内酯，但血清K+水平没有显着升高observed.ConclusionThe GS的表型变异和治疗策略值得进一步研究，以提高GS的诊断和预后。即使是杂合子携带者也表现出24小时Na+尿排泄增加，这可能使他们更容易发生利尿剂诱导的低钾血症。
ContextGitelman syndrome (GS) is clinically heterogeneous. The genotype and phenotype correlation has not been well established. Though the long-term prognosis is considered to be favorable, hypokalemia is difficult to cure.ObjectiveTo analyze the clinical and genetic characteristics and treatment of all members of 13 GS pedigrees.MethodsThirteen pedigrees (86 members, 17 GS patients) were enrolled. Symptoms and management, laboratory findings, and genotype–phenotype associations among all the members were analyzed.ResultsThe average ages at onset and diagnosis were 27.6 ± 10.2 years and 37.9 ± 11.6 years, respectively. Males were an average of 10 years younger and exhibited more profound hypokalemia than females. Eighteen mutations were detected. Two novel mutations (p.W939X, p.G212S) were predicted to be pathogenic by bioinformatic analysis. GS patients exhibited the lowest blood pressure, serum K+, Mg2+, and 24-h urinary Ca2+levels. Although blood pressure, serum K+and Mg2+levels were normal in heterozygous carriers, 24-h urinary Na+excretion was significantly increased. During follow-up, only 41.2% of patients reached a normal serum K+level. Over 80% of patients achieved a normal Mg2+level. Patients were taking 2–3 medications at higher doses than usual prescription to stabilize their K+levels. Six patients were taking spironolactone simultaneously, but no significant elevation in the serum K+level was observed.ConclusionThe phenotypic variability of GS and therapeutic strategies deserve further research to improve GS diagnosis and prognosis. Even heterozygous carriers exhibited increased 24-h Na+urine excretion, which may make them more susceptible to diuretic-induced hypokalemia.
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DOI：
10.1161/hypertensionaha.108.119438
发表时间：
2008-12
期刊：
Hypertension (Dallas, Tex. : 1979)
影响因子：
--
作者：
Shafi T;Appel LJ;Miller ER 3rd;Klag MJ;Parekh RS
通讯作者：
Parekh RS
影响因子：
13.2
作者：
Lin, SH;Cheng, NL;Halperin, ML
通讯作者：
Halperin, ML
影响因子：
13.6
作者：
Huang, Chou-Long;Kuo, Elizabeth
通讯作者：
Kuo, Elizabeth
影响因子：
5.4
作者：
Tago, N;Kokubo, Y;Iwai, N
通讯作者：
Iwai, N
影响因子：
8.3
作者：
Cruz, DN;Simon, DB;Lifton, RP
通讯作者：
Lifton, RP