1,725 results match your criteria: "Cystic Diseases of the Kidney"

Key Points: Our study reveals segment-specific mechanisms in cystic kidney disease and suggests as a modifier of collecting duct–derived cyst progression. Our data demonstrate that genetic deletion of accelerates disease progression in a cystic mouse model.

Background: The transcription factor grainyhead-like 2 (GRHL2) plays a crucial role in maintaining the epithelial barrier properties of the kidney collecting duct and is important to osmoregulation.

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  • * Surveys conducted among healthcare providers and patients revealed that only a minority of providers regularly offer RTB, even though most acknowledge its influence on management decisions.
  • * Barriers to RTB implementation include limited availability, concerns about treatment delays, and a lack of strong evidence on the benefits of RTB, highlighting the need for further research to improve its use in kidney cancer management.
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  • Mutations in the PKD1 and PKD2 genes lead to autosomal dominant polycystic kidney disease (ADPKD), which causes fluid-filled cysts in the kidneys and can result in low blood calcium and magnesium in some patients.
  • The study used a specific mouse model (iKsp-Pkd1) to investigate whether inhibiting ATP release, through the pannexin-1 blocker brilliant blue-FCF (BB-FCF), could help normalize these electrolyte levels in ADPKD.
  • Despite treatment with BB-FCF reducing the expression of certain ion channels, it did not successfully normalize serum calcium and magnesium levels in the mice, nor did it show any protective effects on kidney function.
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  • The Mayo clinic imaging classification helps in better risk assessment for autosomal dominant polycystic kidney disease (ADPKD), but it struggles with diverse non-White populations and atypical imaging patterns.
  • In a study of 98 Chinese ADPKD patients, 17% exhibited atypical imaging patterns, leading to later diagnosis and milder disease severity.
  • Future genetic studies are needed to explore potential genotypic differences that might explain the varied phenotypic expressions seen in these patients.
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  • * A study involving the deletion of the FBW7 gene in kidney segments showed that FBW7 deletion in the medulla leads to a juvenile-adult NPHP-like condition primarily due to fibrosis, while in ADPKD, it is linked to cyst growth and renal function decline.
  • * The researchers suggest that FBW7 is crucial in a protein network that responds to kidney architecture changes due to cyst formation, indicating its role in renal function regulation
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Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations.

Intern Med

March 2024

Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.

Article Synopsis
  • - 17q12 deletion syndrome is a rare genetic condition caused by a specific deletion on chromosome 17, leading to varied health issues in individuals.
  • - A 35-year-old Japanese man was studied, revealing a 1.46 Mb deletion causing multiple health problems, including maturity-onset diabetes, kidney and liver issues, and facial dysmorphic characteristics.
  • - This case adds to our understanding of the diverse symptoms associated with 17q12 deletion syndrome, highlighting its clinical implications.
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Liesegang rings are eosinophilic, concentric, lamellated structures that can assume a variety of shapes and sizes ranging from a few microns to hundreds of microns. To date, Liesegang rings have been reported in around 30 examples in the English literature, in the kidney, breast, female genital tract, and skin, and only a single report in the lung associated with allergic bronchopulmonary aspergillosis. Liesegang rings are usually incidental discoveries and have been associated with benign cystic lesions, inflammatory diseases, fibrosis, and tissue necrosis.

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  • - Hepatocyte nuclear factor 1 beta nephropathy is a rare genetic kidney disease that can resemble autosomal dominant polycystic kidney disease (ADPKD) in symptoms and imaging.
  • - A 37-year-old man with hypertension and kidney cysts was initially thought to have ADPKD, but genetic testing revealed a deletion of the HNF1B gene.
  • - Treatment included ultrasound-guided cyst aspiration and foam sclerotherapy, leading to symptom relief, while the risks associated with tolvaptan for ADPKD were avoided since the diagnosis was confirmed as HNF1B nephropathy.
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This report describes the diagnosis and treatment of a benign renal cyst in an adult, female golden eagle () presented for unilateral leg lameness. A cyst at the cranial division of the left kidney was diagnosed by computed tomography and was suspected of compressing the lumbosacral nerve plexus, resulting in limb lameness. The renal cyst was incompletely excised because the cyst wall was closely adhered to the kidney parenchyma and local blood supply.

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Multiple tumors of different lineages merging into a single mass, termed collision tumors, are considered a rare phenomenon in the kidney. Tumor components, or partners, may be malignant (including metastatic disease), borderline, or benign. We report the largest cohort to date of 48 cases.

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Association of Kidney Cysts With Progressive CKD After Radical Nephrectomy.

Am J Kidney Dis

July 2024

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota; Division of Epidemiology, Mayo Clinic, Rochester, Minnesota. Electronic address:

Article Synopsis
  • Simple kidney cysts are common and typically seen as unimportant but may be linked to worsened chronic kidney disease (CKD) outcomes, especially in older patients with lower kidney function.
  • * An observational study examined patients who underwent radical nephrectomy, analyzing the size and location of kidney cysts to see how they correlate with kidney health over time.
  • * Results showed that having more kidney cysts, particularly medullary ones, increased the risk of progressive CKD events, indicating a potential need for reevaluating the clinical relevance of these cysts in kidney disease.
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Tips for Testing Adults With Suspected Genetic Kidney Disease.

Am J Kidney Dis

June 2024

University of Melbourne Department of Medicine (Melbourne Health and Northern health), Royal Melbourne Hospital, Parkville, Australia. Electronic address:

Article Synopsis
  • * Diagnosis is complicated; genetic testing can reveal important information about inheritance and risks to family members, but patients must consent to the testing, and results may vary.
  • * A genetic counselor or clinical geneticist can help families understand the results and make informed reproductive choices, and patients should receive copies of their test results for further discussion.
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Aims/introduction: Simple renal cysts (SRC) are associated with age, hypertension and hyperuricemia, which are risk factors of renal impairment. This study aimed to investigate the prevalence of SRC and its association with measured glomerular filtration rate (mGFR) in patients with type 2 diabetes mellitus in China.

Methods: A total of 3,552 patients with type 2 diabetes mellitus admitted to Shanghai Sixth People's Hospital from January 2012 to December 2016 were investigated.

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Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disease caused by mutations in either or genes. Approximately, two million individuals suffer from this disorder worldwide. TSC1 and TSC2 code for the proteins harmartin and tuberin, respectively, which form a complex that regulates the mechanistic target of rapamycin complex 1 (mTORC1) and prevents uncontrollable cell growth.

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Hemangioblastoma, also known as capillary hemangioblastoma, is a rare benign mesenchymal tumor commonly found in the central nervous system (CNS). It can also manifest in various organs, including the kidney. Renal hemangioblastoma (RH) is often associated with Von Hippel-Lindau (VHL) disease, but sporadic occurrences are observed infrequently.

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Objective: To determine the reliability of an MRI-based qualitative kidney imaging surveillance scoring system (KISSS) and assess which imaging features predict growth rate (GR) of renal tumors in patients with VHL.

Materials And Methods: We identified 55 patients with VHL with 128 renal tumors who underwent intervention from 2015 to 2020 at the National Cancer Institute. All patients had 2 preoperative MRIs at least 3 months apart.

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Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management.

Semin Nephrol

July 2023

Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Jacksonville, FL. Electronic address:

Article Synopsis
  • - Cystic kidney diseases encompass a variety of conditions, ranging from genetic disorders diagnosed in children to the more common autosomal-dominant polycystic kidney disease in adults, with diagnosis influenced by factors like family history and age.
  • - Proper diagnosis is vital for determining prognosis and management strategies, especially considering different clinical approaches for children and adults, as well as the need for genetic counseling for future pregnancies.
  • - Advances in next-generation sequencing have improved the identification of inherited kidney disorders, although many cystic diseases still lack effective treatments, with the exception of tolvaptan for adults with certain progressive conditions.
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Podocin is a key membrane scaffolding protein of the kidney podocyte essential for intact glomerular filtration. Mutations in NPHS2, the podocin-encoding gene, represent the commonest form of inherited nephrotic syndrome (NS), with early, intractable kidney failure. The most frequent podocin gene mutation in European children is R138Q, causing retention of the misfolded protein in the endoplasmic reticulum.

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  • - *Adenoid cystic carcinoma (AdCC) rarely spreads to the kidneys, with a study identifying 10 cases, primarily in women aged around 48 years, and often originating in the head and neck area.* - *The average time from primary AdCC diagnosis to kidney metastasis was nearly 13 years, with most cases involving only one kidney and displaying mixed growth patterns like cribriform and tubular morphology.* - *Follow-up data for 8 patients showed that 6 were still living with the disease, while 2 had died, highlighting that kidney metastasis from AdCC is a late occurrence that can resemble primary kidney tumors.*
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Mutations that disrupt centrosome biogenesis or function cause congenital kidney developmental defects and fibrocystic pathologies. Yet how centrosome dysfunction results in the kidney disease phenotypes remains unknown. Here, we examined the consequences of conditional knockout of the ciliopathy gene Cep120, essential for centrosome duplication, in the nephron and collecting duct progenitor niches of the mouse embryonic kidney.

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Introduction: Renal cysts are a common disease that occurs at a rate of 7-10%. Currently there are no clinical recommendations for the treatment of patients with simple renal cysts. In the current literature there is some evidence that a simple renal cyst has negative effects on renal function.

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Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.

Kidney Int Rep

October 2023

Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.

Article Synopsis
  • Genetic causes are significant contributors to chronic kidney diseases (CKD) in children, yet the prevalence of these causes from an unselected population is under-researched.
  • A national study in Israel involved exome sequencing of children on dialysis, revealing genetic etiologies in 45% of participants, with congenital kidney anomalies as the most common cause.
  • The study highlighted that genetic diagnoses can greatly influence clinical management, particularly showing higher diagnostic yields in specific demographic groups.
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Epidemiology of birth defects in a national hospital-based birth defect surveillance spot in Southern Jiangsu, China, 2014-2018.

Front Med (Lausanne)

September 2023

Department of Obstetrics and Gynecology, Changzhou Maternity and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, Nanjing, China.

Article Synopsis
  • The study aimed to analyze birth defects prevalence at Changzhou Maternal and Child Health Care Hospital in China from 2014 to 2018, revealing significant challenges in prevention efforts.
  • The prevalence of total birth defects was found to be 313.92 per 10,000 infants, with a concerning upward trend over the years, especially among certain demographics.
  • Key risk factors identified include urban residency, male fetuses, and maternal ages younger than 25 or older than 35, necessitating targeted prevention strategies.
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