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cystic kidney disease

Abdussamet Batur
Primary hyperparathyroidism (pHPT) is a condition caused by excessive and uncontrolled secretion of parathyroid hormone. The classical presenting symptoms in primary hyperparathyroidism are renal stones, hypercalcemic crisis, soft tissue calcifications, and cystic bone disease. Although most cases of pHPT are detected early and before symptomatic lesions appear, some patients may present late in the course of their disease. In this report, we present a patient with extensive parenchymal calcifications forming a cast of the right kidney which is called as "putty kidney" with Brown tumor located in the pubic ramus...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
Georgios Z Papadakis, Corina Millo, Samira M Sadowski, Ulas Bagci, Nicholas J Patronas
Renal and pancreatic cysts and tumors are the most common visceral manifestations of von Hippel-Lindau (VHL) disease, a heritable multisystem cancer syndrome characterized by development of a variety of malignant and benign tumors. We report a case of a VHL patient with multiple renal cystic and complex cystic/solid lesions. The patient underwent Ga-DOTA-TATE-PET/CT showing intensely increased activity by a solid lesion which demonstrated enhancement on both CT and MRI scans, raising high suspicion for malignancy...
October 5, 2016: Clinical Nuclear Medicine
Aliye Uc, Dana K Andersen, Melena D Bellin, Jason I Bruce, Asbjørn M Drewes, John F Engelhardt, Christopher E Forsmark, Markus M Lerch, Mark E Lowe, Brent A Neuschwander-Tetri, Stephen J OʼKeefe, Tonya M Palermo, Pankaj Pasricha, Ashok K Saluja, Vikesh K Singh, Eva M Szigethy, David C Whitcomb, Dhiraj Yadav, Darwin L Conwell
A workshop was sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases to focus on research gaps and opportunities in chronic pancreatitis (CP) and its sequelae. This conference marked the 20th year anniversary of the discovery of the cationic trypsinogen (PRSS1) gene mutation for hereditary pancreatitis. The event was held on July 27, 2016, and structured into 4 sessions: (1) pathophysiology, (2) exocrine complications, (3) endocrine complications, and (4) pain. The current state of knowledge was reviewed; many knowledge gaps and research needs were identified that require further investigation...
November 2016: Pancreas
Eiko Hasegawa, Naoki Sawa, Junichi Hoshino, Tatsuya Suwabe, Noriko Hayami, Masayuki Yamanouchi, Akinari Sekine, Rikako Hiramatsu, Aya Imafuku, Masahiro Kawada, Yoshifumi Ubara, Tsunao Imamura, Kenmei Takaichi
We herein present a rare case of an autosomal dominant polycystic kidney disease (ADPKD) patient with Caroli's disease, a congenital embryonic biliary tree ductal plate abnormality often associated with autosomal recessive polycystic kidney disease. A 76-year-old woman with ADPKD on hemodialysis was admitted to our hospital with recurrent cholangitis and hepatobiliary stones. Caroli's disease was diagnosed according to typical imaging findings of cystic intrahepatic bile duct dilatation and the central dot sign...
2016: Internal Medicine
Shinya Kawamoto, Ryo Koda, Atsunori Yoshino, Tetsuro Takeda, Yoshihiko Ueda
Medullary cystic kidney disease (MCKD) is a hereditary disease associated with bilateral medullary polycysts and interstitial fibrosis. MCKD is typically associated with slowly progressive renal dysfunction. We herein report two rare elderly cases with enlarged kidneys and rapidly progressive renal dysfunction without myeloperoxidase anti-neutrophil cytoplasmic antibody (MPO-ANCA), PR3-ANCA, or anti-glomerular basement membrane (GBM) antibodies. Renal biopsies revealed extensive tubular dilatation and atrophy with interstitial fibrosis consistent with MCKD...
2016: Internal Medicine
Monika Gradzik, Mariusz Niemczyk, Marek Gołębiowski, Leszek Pączek
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders caused by a single gene mutation. The disease usually manifests itself at the age of 30-40 years and is characterized by formation of renal cysts along with the enlargement of kidneys and deterioration of their function, eventually leading to renal insufficiency. Imaging studies (sonography, computed tomography, magnetic resonance imaging) play an important role in the diagnostics of the disease, the monitoring of its progression, and the detection of complications...
2016: Polish Journal of Radiology
Yu Mi Woo
Epigenetic regulation refers to heritable changes in gene expression that do not involve any alteration of the DNA sequence. DNA methylation, histone modification, and gene regulation by microRNAs are well-known epigenetic modulations that are closely associated with several cellular processes and diverse disease states, such as cancers, even under precancerous conditions. More recently, several studies have indicated that epigenetic changes may be associated with renal cystic diseases, including autosomal dominant polycystic kidney disease, and the restoration of altered epigenetic factors may become a therapeutic target of renal cystic disease and would be expected to have minimal side effects...
2016: Advances in Experimental Medicine and Biology
Eun Ji Lee
Increased tubular epithelial cell proliferation with fluid secretion is a key hallmark of autosomal dominant polycystic kidney disease (ADPKD). With disruption of either PKD1 or PKD2, the main causative genes of ADPKD, intracellular calcium homeostasis and cAMP accumulation are disrupted, which in turn leads to altered signaling in the pathways that regulate cell proliferation. These dysregulations finally stimulate the development of fluid-filled cysts originating from abnormally proliferating renal tubular cells...
2016: Advances in Experimental Medicine and Biology
Yu Bin Shin, Jong Hoon Park
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited disorders. It is the fourth leading cause of renal replacement and renal failure worldwide. Mutations in PKD1 or PKD2 cause ADPKD. Patients with ADPKD show progressive growth of renal cysts filled with cystic fluid, leading to end-stage renal disease (ESRD) and renal failure by their sixth decade of life. Currently, there are no curative treatments for ADPKD. Therefore, patients require dialysis or kidney transplantation...
2016: Advances in Experimental Medicine and Biology
Michelle H T Ta, Kristina G Schwensen, Sheryl Foster, Mayuresh Korgaonkar, Justyna E Ozimek-Kulik, Jacqueline K Phillips, Anthony Peduto, Gopala K Rangan
The disease-modifying effects of target of rapamycin complex 1 (TORC1) inhibitors during different stages of polycystic kidney disease (PKD) are not well defined. In this study, male Lewis Polycystic Kidney Disease (LPK) rats (a genetic ortholog of human NPHP9, phenotypically characterised by diffuse distal nephron cystic growth) and Lewis controls received either vehicle (V) or sirolimus (S, 0.2 mg/kg by intraperitoneal injection 5 days per week) during the early (postnatal weeks 3 to 10) or late stages of disease (weeks 10 to 20)...
2016: PloS One
Deval Parekh, Moumita Sengupta, Mou Das, Uttara Chatterjee
Xanthogranulomatous pyelonephritis is an uncommon inflammatory condition accounting for 1% of chronic pyelonephritis cases. Clinically and radiologically it mimics other renal space occupying lesions. Hence, correct preoperative diagnosis is not possible in all cases and nephrectomy is done in most patients. Renal tubulopapillary adenomas are benign epithelial lesions of kidney found to be associated with papillary renal cell carcinoma, acquired renal cystic disease, long term hemodialysis, arteriosclerotic renal vascular disease, etc...
October 2016: Indian Journal of Pathology & Microbiology
Carlo Castellani, Baroukh M Assael
Cystic fibrosis (CF), a monogenic disease caused by mutations in the CFTR gene on chromosome 7, is complex and greatly variable in clinical expression. Airways, pancreas, male genital system, intestine, liver, bone, and kidney are involved. The lack of CFTR or its impaired function causes fat malabsorption and chronic pulmonary infections leading to bronchiectasis and progressive lung damage. Previously considered lethal in infancy and childhood, CF has now attained median survivals of 50 years of age, mainly thanks to the early diagnosis through neonatal screening, recognition of mild forms, and an aggressive therapeutic attitude...
October 5, 2016: Cellular and Molecular Life Sciences: CMLS
Olga Zegarra-Moran, Luis J V Galietta
CFTR protein is an ion channel regulated by cAMP-dependent phosphorylation and expressed in many types of epithelial cells. CFTR-mediated chloride and bicarbonate secretion play an important role in the respiratory and gastrointestinal systems. Pharmacological modulators of CFTR represent promising drugs for a variety of diseases. In particular, correctors and potentiators may restore the activity of CFTR in cystic fibrosis patients. Potentiators are also potentially useful to improve mucociliary clearance in patients with chronic obstructive pulmonary disease...
October 4, 2016: Cellular and Molecular Life Sciences: CMLS
Jake A Nieto, Michael A Yamin, Itzhak D Goldberg, Prakash Narayan
Autosomal recessive polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts. The disease is congenital and children that do not succumb to it during the neonatal period will, by age 10 years, more often than not, require nephrectomy+renal replacement therapy for management of both pain and renal insufficiency. Since increasing cystic index (CI; percent of kidney occupied by cysts) drives both renal expansion and organ dysfunction, management of these patients, including decisions such as elective nephrectomy and prioritization on the transplant waitlist, could clearly benefit from serial determination of CI...
2016: PloS One
Fareed B Kamar, Bikaramjit Mann, Gregory Kline
BACKGROUND: Tumoral calcinosis is a rare manifestation of extraskeletal calcification, featuring large calcified cystic masses in the periarticular regions of large joints. In chronic kidney disease (CKD), this disorder is thought to evolve through a chronically elevated calcium-phosphorus solubility product leading to calcium precipitation in soft tissue. Treating tumoral calcinosis in these patients involves interventions to lower the calcium-phosphorus product such as reduction in vitamin D therapy and intensive hemodialysis regimens...
September 29, 2016: BMC Nephrology
Meriam Boubakri, Taro Chaya, Hiromi Hirata, Naoko Kajimura, Ryusuke Kuwahara, Akiko Ueno, Jarema Malicki, Takahisa Furukawa, Yoshihiro Omori
In the retina, aberrant opsin transport from cell bodies to outer segments leads to retinal degenerative diseases such as retinitis pigmentosa. Opsin transport is facilitated by the intraflagellar transport (IFT) system which mediates the bidirectional movement of proteins within cilia. In contrast to functions of the anterograde transport executed by IFT complex B (IFT-B), the precise functions of the retrograde transport mediated by IFT complex A (IFT-A) have not been well studied in photoreceptor cilia. Here, we analyzed developing zebrafish larvae carrying a null mutation in ift122 encoding a component of IFT-A...
September 28, 2016: Journal of Biological Chemistry
Alessia Calcagnì, Lotte Kors, Eric Verschuren, Rossella De Cegli, Nicolina Zampelli, Edoardo Nusco, Stefano Confalonieri, Giovanni Bertalot, Salvatore Pece, Carmine Settembre, Gabriel G Malouf, Jaklien C Leemans, Emile de Heer, Marco Salvatore, Dorien Jm Peters, Pier Paolo Di Fiore, Andrea Ballabio
TFE-fusion renal cell carcinomas (TFE-fusion RCCs) are caused by chromosomal translocations that lead to overexpression of the TFEB and TFE3 genes (Kauffman et al., 2014). The mechanisms leading to kidney tumor development remain uncharacterized and effective therapies are yet to be identified. Hence, the need to model these diseases in an experimental animal system (Kauffman et al., 2014). Here, we show that kidney-specific TFEB overexpression in transgenic mice, resulted in renal clear cells, multi-layered basement membranes, severe cystic pathology, and ultimately papillary carcinomas with hepatic metastases...
2016: ELife
Jean-Michel Correas, Dany Anglicheau, Dominique Joly, Jean-Luc Gennisson, Mickael Tanter, Olivier Hélénon
In recent years, several novel ultrasound (US)-based techniques have emerged for kidney diagnostic imaging, including tissue stiffness assessment with elastography, Ultrasensitive Doppler techniques, and contrast-enhanced ultrasonography to assess renal microvascularization. Renal elastography has become available with the development of noninvasive quantitative techniques, following the rapidly growing field of liver fibrosis diagnosis. With the increased incidence of chronic kidney disease, noninvasive diagnosis of renal fibrosis can be of critical value...
September 21, 2016: Kidney International
Sheena Sharma, Jennifer M Kalish, Ethan M Goldberg, Francis Jeshira Reynoso, Madhura Pradhan
Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1) gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15-50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys. This condition almost always causes intrauterine lethality in males. Description of Case Diagnosis and Treatment. A Caucasian male aged 9 years and 9 months presented with increased urinary frequency, increased thirst, and decreased appetite...
2016: Case Reports in Nephrology
Farah Adel, José Manuel Ramia, Luis Gijón, Roberto de la Plaza-Llamas, Vladimir Arteaga-Peralta, Carmen Ramiro-Perez
BACKGROUND: Cystic echinococcosis is a zoonosis caused by larvae of the parasite Echinococcus that is endemic in many countries of the Mediterranean area. It can affect any organ, with the most common sites being liver (70%) and lung (20%). Splenic hydatid disease, despite being rare, is the third most common location. Other locations such as bone, skin, or kidney are exceptional. OBJECTIVE: To present our experience in extrahepatic and extrapulmonary hydatidosis...
September 5, 2016: Cirugia y Cirujanos
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