Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.,Genetics in Medicine

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Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2020-03-17 , DOI: 10.1038/s41436-020-0772-y
Christie P Thomas _{1,

2,

3} , Margaret E Freese ₁ , Agnes Ounda ₁ , Jennifer G Jetton ₂ , Myrl Holida ₂ , Lama Noureddine ₁ , Richard J Smith _{1,

2,

4}

Affiliation

Purpose

A Renal Genetics Clinic (RGC) was established to optimize diagnostic testing, facilitate genetic counseling, and direct clinical management.

Methods

Retrospective review of patients seen over a two-year period in the RGC.

Results

One hundred eleven patients (mean age: 39.9 years) were referred to the RGC: 65 for genetic evaluation, 19 for management of a known genetic disease, and 18 healthy living kidney donors (LKDs) and their 9 related transplant candidates for screening. Forty-three patients underwent genetic testing with a diagnosis in 60% of patients including 9 with Alport syndrome, 7 with autosomal dominant polycystic kidney disease (ADPKD), 2 with genetic focal segmental glomerulosclerosis (FSGS), 2 with PAX2-mediated CAKUT, and 1 each with autosomal recessive polycystic kidney disease (ARPKD), Dent, Frasier, Gordon, Gitelman, and Zellweger syndromes. Four of 18 LKDs were referred only for APOL1 screening. For the remaining 14 LKDs, their transplant candidates were first tested to establish a genetic diagnosis. Five LKDs tested negative for the familial genetic variant, four were positive for their familial variant. In five transplant candidates, a genetic variant could not be identified.

Conclusion

An RGC that includes genetic counseling enhances care of renal patients by improving diagnosis, directing management, affording presymptomatic family focused genetic counseling, and assisting patients and LKDs to make informed decisions.

中文翻译：

来自肾脏遗传学诊所的初步经验证明了在患者管理中的独特作用。

目的

建立了肾脏遗传学诊所 (RGC)，以优化诊断测试、促进遗传咨询和指导临床管理。

方法

回顾性审查在 RGC 两年内就诊的患者。

结果

111 名患者（平均年龄：39.9 岁）被转诊至 RGC：65 名用于遗传评估，19 名用于管理已知遗传疾病，18 名健康活体肾脏供体 (LKD) 及其 9 名相关移植候选者进行筛查。43 名患者接受了基因检测，其中 60% 的患者被确诊，其中 9 名患有 Alport 综合征，7 名患有常染色体显性遗传多囊肾病 (ADPKD)，2 名患有遗传性局灶节段性肾小球硬化症 (FSGS)，2 名患有PAX2介导的 CAKUT，以及1 例常染色体隐性遗传多囊肾病 (ARPKD)、Dent、Frasier、Gordon、Gitelman 和 Zellweger 综合征。18 个 LKD 中有 4 个仅用于APOL1筛选。对于剩余的 14 个 LKD，他们的移植候选者首先经过测试以建立基因诊断。5 个 LKD 的家族遗传变异检测呈阴性，4 个家族变异呈阳性。在五个移植候选者中，无法识别出遗传变异。