This article cannot comprehensively cover the enormous strides made in defining the molecular and cellular basis of renal cystic diseases over the last decade. Therefore, it provides a brief overview and categorization of inherited, developmental, and acquired renal cystic diseases, providing a relevant, up-to-date bibliography as well as a useful list of informative Internet Web sites. Its major focus is the translational biology of polycystic kidney disease. It demonstrates how emerging molecular and cellular knowledge of the pathophysiology of particular diseases such as autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ADPKD) can translate into innovative therapeutic insights.
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http://dx.doi.org/10.1016/j.pcl.2006.08.012 | DOI Listing |
Am J Kidney Dis
December 2024
Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de référence MARHEA, CHRU Brest, Brest, France; Institut de Recherche Expérimentale et Clinique (IREC), UCLouvain, Brussels, Belgium. Electronic address:
Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.
Study Design: Case series.
Clin Genet
December 2024
Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
Renal ciliopathies are a genetically and phenotypically heterogeneous group of diseases characterized by cystic and dysplastic kidneys. The aim of this study was to investigate the correlation between genetic changes that cause renal ciliopathies and phenotypic outcomes. The study group consisted of 137 patients diagnosed with renal ciliopathy disease.
View Article and Find Full Text PDFMedeni Med J
December 2024
Akdeniz University School of Medicine, Departmant of Medical Biology and Genetics, Antalya, Turkey.
Objective: Chronic kidney disease (CKD) is a prominent public health concern, is defined as functional and structural damage to the kidneys. This study aims to investigate the association between human leukocyte antigen (HLA) alleles individuals with CKD and the different etiological subgroups of diesease.
Methods: Genomic DNA was obtained from peripheral blood samples of 1,079 patients with retrospective CKD and 1,111 healthy control individuals.
Int J Surg Case Rep
December 2024
Damascus Hospital, Damascus, Syria.
Introduction And Significance: Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) is a rare renal tumor primarily associated with female patients and those with tuberous sclerosis complex (TSC). Despite lacking distinct clinical or radiological features, its unique histological characteristics allow for differentiation from other renal neoplasms. While it often exhibits indolent growth, metastatic potential remains a concern.
View Article and Find Full Text PDFInt J Urol
December 2024
Department of Urology, Keio University School of Medicine, Shinjuku-Ku, Tokyo, Japan.
Objective: Clinical trials have demonstrated the efficacy and safety of avelumab + axitinib in patients with advanced clear cell renal cell carcinoma (ccRCC). However, information is limited regarding the activity of avelumab + axitinib in patients with non-clear cell RCC (nccRCC). In Japan, post-marketing surveillance (PMS) of patients with RCC receiving avelumab + axitinib treatment in general clinical practice was undertaken.
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