Deimante Brazdziunaite, Gabija Mazur, Agne Kerpauskiene, Rimante Cerkauskiene, Loreta Vareikiene, Marius Miglinas, Algirdas Utkus
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引用次数: 0
Abstract
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.
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