Autosomal dominant polycystic kidney disease is the most prevalent hereditary renal disease, associated with progressive renal insufficiency, usually leading to dialysis. It is rarely diagnosed with other renal abnormalities. We present a case of a 35-year-old woman with a duplicated left polycystic kidney, who had recurrent pain and pyelonephritis because of ureteropelvic junction (UPJ) obstruction of the upper moiety. A 35-year-old female patient initially presented with left flank pain for 7 days. Evaluation demonstrated enlarged bilateral polycystic kidneys with the appearance of a duplicated system of the left kidney and UPJ obstruction of the upper moeity. She underwent endoscopic management, including balloon dilatation and stent placement. After stent removal she had no symptoms, and ultrasonography showed resolution of the upper pole hydronephrosis. Minimally invasive nephron sparing approaches for UPJ obstruction could delay the process of end-stage renal disease development in polycystic kidney disease patients who have additional congenital renal anomalies. Balloon dilatation should be considered as a feasible therapy for UPJ obstruction in polycystic kidney disease patients with duplicated systems.
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http://dx.doi.org/10.1089/cren.2019.0023 | DOI Listing |
Extracell Vesicle
December 2024
The Jared Grantham Kidney Institute at the University of Kansas Medical Center, Department of Nephrology and Hypertension, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Autosomal dominant polycystic kidney (ADPKD) disease is the commonest genetic cause of kidney failure (affecting 1:800 individuals) and is due to heterozygous germline mutations in either of two genes, and . Homozygous germline mutations in are responsible for autosomal recessive polycystic kidney (ARPKD) disease a rare (1:20,000) but severe neonatal disease. The products of these three genes, (polycystin-1 (PC1 4302(3)aa)), (polycystin-2 (PC2 968aa)) and (fibrocystin (4074aa)) are all present on extracellular vesicles (EVs) termed, PKD-exosome-like vesicles (PKD-ELVs).
View Article and Find Full Text PDFJ Nephrol
January 2025
Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.
View Article and Find Full Text PDFAdv Biotechnol (Singap)
June 2024
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-Sen University, Guangzhou, Guangdong, 510275, China.
Autosomal dominant polycystic kidney disease (ADPKD) is a dominant genetic disorder caused primarily by mutations in the PKD1 gene, resulting in the formation of numerous cysts and eventually kidney failure. However, there are currently no gene therapy studies aimed at correcting PKD1 gene mutations. In this study, we identified two mutation sites associated with ADPKD, c.
View Article and Find Full Text PDFJ Nephrol
January 2025
Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the most common monogenic cause of kidney failure. While identifying genetic variants predicts disease progression, characterization of recently described ADPKD-like variants is limited. We explored disease progression and genetic spectrum of genetically-confirmed ADPKD families with PKD1 and non-PKD1 variants.
View Article and Find Full Text PDFAcad Radiol
January 2025
Department of Medical Imaging, National Taiwan University Hospital, Taipei, Taiwan (T.W.L., C.H.W.); Center of Minimal-Invasive Interventional Radiology, National Taiwan University Hospital, Taipei, Taiwan (C.H.W.); Hepatitis Research Center, National Taiwan University Hospital, Taipei, Taiwan (C.H.W.). Electronic address:
Rationale And Objectives: Individuals with autosomal dominant polycystic kidney disease (ADPKD) can present with diverse renal and extra-renal manifestations. Large vessel anomalies, such as cerebral aneurysms, are potentially fatal extra-renal manifestations. However, limited research has been conducted on cerebral small vessel disease (CSVD).
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