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Medicina (Kaunas, Lithuania) Jan 2021The detection of a renal mass is a relatively frequent occurrence in the daily practice of any Radiology Department. The diagnostic approaches depend on whether the... (Review)
Review
The detection of a renal mass is a relatively frequent occurrence in the daily practice of any Radiology Department. The diagnostic approaches depend on whether the lesion is cystic or solid. Cystic lesions can be managed using the Bosniak classification, while management of solid lesions depends on whether the lesion is well-defined or infiltrative. The approach to well-defined lesions focuses mainly on the differentiation between renal cancer and benign tumors such as angiomyolipoma (AML) and oncocytoma. Differential diagnosis of infiltrative lesions is wider, including primary and secondary malignancies and inflammatory disease, and knowledge of the patient history is essential. Radiologists may establish a possible differential diagnosis based on the imaging features of the renal masses and the clinical history. The aim of this review is to present the contribution of the different imaging techniques and image guided biopsies in the diagnostic management of cystic and solid renal lesions.
Topics: Abscess; Adenoma; Adenoma, Oxyphilic; Angiomyolipoma; Carcinoma, Renal Cell; Carcinoma, Transitional Cell; Contrast Media; Cysts; Humans; Kidney Diseases; Kidney Neoplasms; Leiomyoma; Lymphoma; Magnetic Resonance Imaging; Plasmacytoma; Pyelonephritis; Pyelonephritis, Xanthogranulomatous; Tomography, X-Ray Computed; Ultrasonography; Ultrasonography, Doppler, Color
PubMed: 33435540
DOI: 10.3390/medicina57010051 -
Cell Metabolism Dec 2019Mild reduction in food intake was recently shown to slow polycystic kidney disease (PKD) progression in mouse models, but whether the effect was due to solely reduced...
Mild reduction in food intake was recently shown to slow polycystic kidney disease (PKD) progression in mouse models, but whether the effect was due to solely reduced calories or some other aspect of the diet has been unclear. We now show that the benefit is due to the induction of ketosis. Time-restricted feeding, without caloric reduction, strongly inhibits mTOR signaling, proliferation, and fibrosis in the affected kidneys in a PKD rat model. A ketogenic diet had a similar effect and led to regression of renal cystic burden. Acute fasting in rat, mouse, and feline models of PKD results in rapid reduction of cyst volume, while oral administration of the ketone β-hydroxybutyrate (BHB) in rats strongly inhibits PKD progression. These results suggest that cystic cells in PKD are metabolically inflexible, which could be exploited by dietary interventions or supplementation with BHB, representing a new therapeutic avenue to treat PKD.
Topics: 3-Hydroxybutyric Acid; Animals; Cats; Cysts; Diet, Ketogenic; Disease Models, Animal; Disease Progression; Fasting; Female; Fibrosis; Ketosis; Kidney; Male; Mice; Mice, Inbred C57BL; Polycystic Kidney Diseases; Rats; Rats, Sprague-Dawley
PubMed: 31631001
DOI: 10.1016/j.cmet.2019.09.012 -
European Respiratory Review : An... Sep 2020Birt-Hogg-Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene , encoding the protein...
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene , encoding the protein folliculin. Its clinical expression typically includes multiple pulmonary cysts, recurrent spontaneous pneumothoraces, cutaneous fibrofolliculomas and renal tumours of various histological types. BHD has no sex predilection and tends to manifest in the third or fourth decade of life. Multiple bilateral pulmonary cysts are found on chest computed tomography in >80% of patients and more than half experience one or more episodes of pneumothorax. A family history of pneumothorax is an important clue, which suggests the diagnosis of BHD. Unlike other cystic lung diseases such as lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis, BHD does not lead to progressive loss of lung function and chronic respiratory insufficiency. Renal tumours affect about 30% of patients during their lifetime, and can be multiple and recurrent. The diagnosis of BHD is based on a combination of genetic, clinical and/or skin histopathological criteria. Management mainly consists of early pleurodesis in the case of pneumothorax, periodic renal imaging for tumour detection, and diagnostic work-up in search of BHD in relatives of the index patient.
Topics: Birt-Hogg-Dube Syndrome; Cysts; Humans; Lung Diseases; Pneumothorax; Tomography, X-Ray Computed
PubMed: 32943413
DOI: 10.1183/16000617.0042-2020 -
EMBO Molecular Medicine May 2023Birt-Hogg-Dubé (BHD) syndrome is an inherited familial cancer syndrome characterized by the development of cutaneous lesions, pulmonary cysts, renal tumors and cysts...
Birt-Hogg-Dubé (BHD) syndrome is an inherited familial cancer syndrome characterized by the development of cutaneous lesions, pulmonary cysts, renal tumors and cysts and caused by loss-of-function pathogenic variants in the gene encoding the tumor-suppressor protein folliculin (FLCN). FLCN acts as a negative regulator of TFEB and TFE3 transcription factors, master controllers of lysosomal biogenesis and autophagy, by enabling their phosphorylation by the mechanistic Target Of Rapamycin Complex 1 (mTORC1). We have previously shown that deletion of Tfeb rescued the renal cystic phenotype of kidney-specific Flcn KO mice. Using Flcn/Tfeb/Tfe3 double and triple KO mice, we now show that both Tfeb and Tfe3 contribute, in a differential and cooperative manner, to kidney cystogenesis. Remarkably, the analysis of BHD patient-derived tumor samples revealed increased activation of TFEB/TFE3-mediated transcriptional program and silencing either of the two genes rescued tumorigenesis in human BHD renal tumor cell line-derived xenografts (CDXs). Our findings demonstrate in disease-relevant models that both TFEB and TFE3 are key drivers of renal tumorigenesis and suggest novel therapeutic strategies based on the inhibition of these transcription factors.
Topics: Humans; Mice; Animals; Kidney; Kidney Neoplasms; Birt-Hogg-Dube Syndrome; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Transcription Factors; Carcinogenesis; Cysts
PubMed: 36987696
DOI: 10.15252/emmm.202216877 -
Nature Communications Oct 2022Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic cause of end stage renal disease characterized by progressive expansion of kidney cysts. To...
Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic cause of end stage renal disease characterized by progressive expansion of kidney cysts. To better understand the cell types and states driving ADPKD progression, we analyze eight ADPKD and five healthy human kidney samples, generating single cell multiomic atlas consisting of ~100,000 single nucleus transcriptomes and ~50,000 single nucleus epigenomes. Activation of proinflammatory, profibrotic signaling pathways are driven by proximal tubular cells with a failed repair transcriptomic signature, proinflammatory fibroblasts and collecting duct cells. We identify GPRC5A as a marker for cyst-lining collecting duct cells that exhibits increased transcription factor binding motif availability for NF-κB, TEAD, CREB and retinoic acid receptors. We identify and validate a distal enhancer regulating GPRC5A expression containing these motifs. This single cell multiomic analysis of human ADPKD reveals previously unrecognized cellular heterogeneity and provides a foundation to develop better diagnostic and therapeutic approaches.
Topics: Humans; Polycystic Kidney, Autosomal Dominant; Single-Cell Analysis; Kidney; Kidney Tubules; Epithelial Cells; Cysts; Receptors, G-Protein-Coupled
PubMed: 36310237
DOI: 10.1038/s41467-022-34255-z -
Annals of the Royal College of Surgeons... Nov 1993Lymphocele is a complication which will be familiar to the gynaecological surgeon, particularly the oncologist. It is also well recognised in association with urological... (Review)
Review
Lymphocele is a complication which will be familiar to the gynaecological surgeon, particularly the oncologist. It is also well recognised in association with urological pelvic surgery and renal transplantation. Occurrence of lymphocele has been described in relation to surgery in a wide variety of other areas including the mediastinum, axilla, neck, aorta and peripheral vasculature. Clearly many of these examples are unusual occurrences, but they serve to illustrate that this complication will be encountered occasionally by surgeons in any of a number of disciplines.
Topics: Female; Genital Neoplasms, Female; Humans; Lymphocele; Postoperative Complications
PubMed: 8285540
DOI: No ID Found -
The British Journal of Radiology Jun 2019Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal genetic disorder and a leading cause of end stage renal failure (ESRF) affecting over... (Review)
Review
Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal genetic disorder and a leading cause of end stage renal failure (ESRF) affecting over 12 million people worldwide. Whilst the mainstay of diagnosis has historically favoured the imaging domain, the progression of disease was until very recently thought to be best monitored via biochemical analysis, measurement of estimated glomerular filtration rate. Imaging modalities such as sonography, CT and MRI have more recently proven to be key in monitoring disease progression. As much as half of the renal parenchyma can be lost with no real derangement in renal function. Tolvaptan, a vasopressin antagonist has been shown to slow disease progression and preserve renal function. Here we discuss at length the pathogenesis of ADPKD, the various diagnostic challenges surrounding its evaluation, new treatment options and monitoring of disease progression via serial imaging. We also propose monitoring of the efficacy of Tolvaptan at slowing the rate of deterioration in renal function in patients with ADPKD through MRI guided volumetric analysis of the kidneys.
Topics: Antidiuretic Hormone Receptor Antagonists; Carcinoma, Renal Cell; Cysts; Diagnosis, Differential; Diagnostic Imaging; Disease Progression; Humans; Kidney Calculi; Kidney Neoplasms; Polycystic Kidney, Autosomal Dominant; Tolvaptan
PubMed: 31039325
DOI: 10.1259/bjr.20190078 -
The Korean Journal of Internal Medicine Mar 2022
Topics: Cysts; Female; Humans; Kidney Diseases, Cystic; Kidney Neoplasms; Male
PubMed: 35272442
DOI: 10.3904/kjim.2022.043 -
Archives of Iranian Medicine Mar 2022People with simple renal cysts (SRCs) are more likely to develop renal injury and dysfunction, but the mechanisms remain controversial, as the process of SRC formation...
BACKGROUND
People with simple renal cysts (SRCs) are more likely to develop renal injury and dysfunction, but the mechanisms remain controversial, as the process of SRC formation and its characteristics are not yet well-known. This research focuses on the characteristics of SRCs and discusses how SRCs cause renal injury.
METHODS
In 2014, a total of 401 participants without any prior kidney disease were selected for the research. Their average age was 49.7 years. SRC morphology and changes were monitored over a 5-year follow-up period. Renal volume and blood perfusion were measured by ultrasound imaging. Logistic regression analysis was used to assess the relationship between renal cyst and renal function.
RESULTS
During the 5-year follow-up, elderly participants with multiple cysts (odds ratio [OR] 1.89; 95% CI 1.67 to 5.99) and a maximum cyst diameter of 1.5 cm or greater (OR 1.93; 95% CI 1.15 to 5.34) were found to be positively correlated with renal injury. A decrease in intrarenal perfusion was observed at the early stages of follow-up, but the reduction in renal volume was a slow and gradual process.
CONCLUSION
Elderly people with multiple cysts, a maximum cyst diameter of the cysts≥1.5 cm, and multiple cysts are more likely to suffer renal injury. Ultrasound examination has an important status in monitoring the changes in renal volume and peak systolic velocity (PSV) of the renal interlobar artery.
Topics: Aged; Cysts; Female; Humans; Kidney; Kidney Diseases, Cystic; Kidney Neoplasms; Male; Middle Aged; Retrospective Studies; Ultrasonography
PubMed: 35429956
DOI: 10.34172/aim.2022.26 -
Cell Reports Dec 2023In autosomal dominant polycystic kidney disease (ADPKD), renal cyst lesions predominantly arise from collecting ducts (CDs). However, relevant CD cyst models using human...
In autosomal dominant polycystic kidney disease (ADPKD), renal cyst lesions predominantly arise from collecting ducts (CDs). However, relevant CD cyst models using human cells are lacking. Although previous reports have generated in vitro renal tubule cyst models from human induced pluripotent stem cells (hiPSCs), therapeutic drug candidates for ADPKD have not been identified. Here, by establishing expansion cultures of hiPSC-derived ureteric bud tip cells, an embryonic precursor that gives rise to CDs, we succeed in advancing the developmental stage of CD organoids and show that all CD organoids derived from PKD1 hiPSCs spontaneously develop multiple cysts, clarifying the initiation mechanisms of cystogenesis. Moreover, we identify retinoic acid receptor (RAR) agonists as candidate drugs that suppress in vitro cystogenesis and confirm the therapeutic effects on an ADPKD mouse model in vivo. Therefore, our in vitro CD cyst model contributes to understanding disease mechanisms and drug discovery for ADPKD.
Topics: Mice; Animals; Humans; Polycystic Kidney, Autosomal Dominant; Induced Pluripotent Stem Cells; Kidney; Kidney Neoplasms; Organoids; Cysts; TRPP Cation Channels
PubMed: 38039961
DOI: 10.1016/j.celrep.2023.113431