立陶宛囊肾患者的遗传特征。

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Deimante Brazdziunaite, Gabija Mazur, Agne Kerpauskiene, Rimante Cerkauskiene, Loreta Vareikiene, Marius Miglinas, Algirdas Utkus
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引用次数: 0

摘要

囊性肾脏病是遗传和临床异质性。尽管基因检测取得了进步,但一些患者仍未得到诊断,这限制了针对性的治疗。本研究探讨了立陶宛多发性肾囊肿患者的遗传原因。对114名患者进行了以肾脏为中心的下一代测序或Sanger测序的基因检测。分析了检测到变异的个体的遗传和临床数据。在69%的家庭中发现了诊断变异;不确定意义的变异占13%,其余家族未被诊断。第1组(明确的囊肾表型)的诊断率为73%,第2组(非特异性肾囊肿)的诊断率为61%。总共在7个基因中鉴定出24个新的变异。常染色体显性多囊肾病(ADPKD)是最常见的诊断。在非特异性囊肿患者中,在PKD1、COL4A5、HNF1B、NPHP1、PAX2、TSC2和UMOD中发现了变异,而39%的患者基因未得到解决。非adpkd诊断的患者通常表现为没有明确表型的多个囊肿。大多数患者携带致病变异,新的变异将有助于建立ADPKD变异数据库。虽然纤毛病是常见的,遗传性肾小球病也可能表现为囊性表型。非特异性多发肾囊肿应考虑基因检测。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Characterization of Lithuanian Patients With Cystic Kidney.

Cystic kidney diseases are genetically and clinically heterogeneous. Despite advances in genetic testing, some patients remain undiagnosed, limiting targeted care. This study explores the genetic causes in Lithuanian patients with multiple kidney cysts. Genetic testing using kidney-focused next-generation sequencing or Sanger sequencing was performed on 114 patients. Genetic and clinical data from individuals with detected variants were analyzed. Diagnostic variants were identified in 69% of families; variants of uncertain significance in 13%, and the remaining families were undiagnosed. The diagnostic yield was 73% in Group 1 (defined cystic kidney phenotype) and 61% in Group 2 (nonspecific kidney cysts). In total, 24 novel variants were identified in seven genes. Autosomal dominant polycystic kidney disease (ADPKD) was the most common diagnosis. Among patients with nonspecific cysts, variants were found in PKD1, COL4A5, HNF1B, NPHP1, PAX2, TSC2, and UMOD, while 39% remained genetically unresolved. Patients with non-ADPKD diagnoses typically showed multiple cysts without a definitive phenotype. Most patients harbored disease-causing variants, with novel variants that will contribute to the ADPKD Variant Database. While ciliopathies are frequently recognized, genetic glomerulopathies may also present with a cystic phenotype. Genetic testing should be considered in cases of nonspecific multiple kidney cysts.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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