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Medullary sponge kidney

Muhammad Usman Janjua, Xiao-Dan Long, Zhao-Hui Mo, Chang-Sheng Dong, Ping Jin
BACKGROUND: Medullary sponge kidney is a rare renal malformation, which usually manifests as nephrocalcinosis, renal tubular acidosis, and recurrent urinary tract infections. Medullary sponge kidney is often associated with renal developmental anomalies and tumors, and its exact pathogenesis is not yet clearly explained. Given the key role of the interaction of glial cell line-derived neurotrophic factor gene, GDNF, and the "rearranged during transfection" proto-oncogene, RET, in kidney and urinary tract development, variations in these genes are proposed to be candidates for medullary sponge kidney...
July 9, 2018: Journal of Medical Case Reports
Geoffrey S Gaunay, Robert G Berkenblit, Christian H Tabib, Jeffrey R Blitstein, Manoj Patel, David M Hoenig
Objective: To expand the diagnostic armamentarium for medullary sponge kidney (MSK), we evaluate the use of high-resolution multidetector computed tomography (MDCT) for MSK diagnosis and compare to the standard intravenous urography (IVU). Despite a significant prevalence amongst stone formers, diagnosis of this well described condition has declined. IVU, the gold standard in MSK diagnosis, has largely been replaced by CT, which has previously been shown unable to demonstrate signs of MSK...
March 2018: Current Urology
G Gambaro, D S Goldfarb, R Baccaro, J Hirsch, N Topilow, S D'Alonzo, G Gambassi, P M Ferraro
Medullary sponge kidney (MSK) is a cause of nephrocalcinosis, associated with hematuria, renal colic, pyelonephritis. There are rare and atypical MSK cases characterized by chronic severe pain (CP), whose features are unknown, in particular the relationship with the stone disease activity. This study analyzes a cohort of MSK-CP patients belonging to three North-America self-support Facebook groups. Patients had to self-administer an on-line questionnaire (on intensity, progression and MSK-associated conditions, stone-related disease, pain features, drug use), the Brief Pain Inventory, the Fatigue Severity Score, and Wisconsin Quality of Life (WQL) in stone formers questionnaires...
August 2018: Journal of Nephrology
Dario Giambelluca, Giovanni Caruana, Eliana Giambelluca, Dario Picone, Giuseppe Lo Re
No abstract text is available yet for this article.
August 2018: Abdominal Radiology
Y Hong, Q Q Xu, X B Huang, Z J Zhu, H Y Ye, F S Zhang, Q Y Yang, L Z An, T Xu
Objective: To evaluate the effects of percutaneous nephrolithotomy (PNL) in the treatment of medullary sponge kidney with calculi. Methods: A total of 77 patients (91 renal units) of medullary sponge kidney with calculi (MSK group) and 77 patients (77 renal units) with common kidney stone (control group) received PNL at Department of Urology in Peking University People's Hospital from September 2006 to February 2016 were analyzed retrospectively. The MSK group included 33 males and 44 females with a mean age of (42...
October 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
Francisco Javier Irazusta, Juan Caro-Codón, Pablo Merás, María Isabel Torres, Elena Refoyo-Salicio
No abstract text is available yet for this article.
October 1, 2017: European Heart Journal Cardiovascular Imaging
Wisit Cheungpasitporn, Aditya S Pawar, Stephen B Erickson
No abstract text is available yet for this article.
April 2017: Urology Annals
Somchai Chutipongtanate
Urinary proteomics is a promising tool for biomarker investigation, particularly in complex kidney diseases. Fabris and colleagues report that urinary laminin subunit alpha-2 is a potential diagnostic marker of medullary sponge kidney (MSK) disease by using a label-free quantitative proteomics platform and a clinically compatible enzyme-linked immunosorbent assay. The neglected issue of stone pathogenesis was also evidenced. This commentary discusses several considerations in biomarker validation, and how urinary proteomics breaks new ground in MSK research...
February 2017: Kidney International
Wisit Cheungpasitporn, Charat Thongprayoon, Brady A Brabec, Wonngarm Kittanamongkolchai, Stephen B Erickson
BACKGROUND: Patients with medullary sponge kidney (MSK) commonly encounter recurrent nephrolithiasis. The existing knowledge on safety of donors with MSK has not been studied. METHODS: We conducted a retrospective cohort study at a tertiary referral hospital to assess the outcomes of living kidney donors with MSK. All adults with MSK (N = 26) who underwent nephrectomy as living kidney donors between January 2000 and September 2014 were included. Non-donors with MSK (N = 78) were randomly selected by matching the year of birth and the comorbidity score with a ratio of 1:3 for comparison...
December 2016: Clinical Kidney Journal
Antonia Fabris, Maurizio Bruschi, Laura Santucci, Giovanni Candiano, Simona Granata, Alessandra Dalla Gassa, Nadia Antonucci, Andrea Petretto, Gian Marco Ghiggeri, Giovanni Gambaro, Antonio Lupo, Gianluigi Zaza
Medullary sponge kidney (MSK) disease, a rare kidney malformation featuring recurrent renal stones and nephrocalcinosis, continues to be diagnosed using expensive and time-consuming clinical/instrumental tests (mainly urography). Currently, no molecular diagnostic biomarkers are available. To identify such we employed a proteomic-based research strategy utilizing urine from 22 patients with MSK and 22 patients affected by idiopathic calcium nephrolithiasis (ICN) as controls. Notably, two patients with ICN presented cysts...
February 2017: Kidney International
Paolo Ria, Antonia Fabris, Alessandra Dalla Gassa, Gianluigi Zaza, Antonio Lupo, Giovanni Gambaro
Medullary sponge kidney (MSK) is a congenital renal disorder. Its association with several developmental abnormalities in other organs hints at the likelihood of some shared step(s) in the embryogenesis of the kidney and other organs. It has been suggested that the REarranged during Transfection (RET) proto-oncogene and the Glial cell line-Derived Neurotrophic Factor (GDNF) gene are defective in patients with MSK, and both RET and GDNF are known to have a role in the development of the central nervous system, heart, and craniofacial skeleton...
August 2017: Urolithiasis
Tracy P Marien, Nicole L Miller
The mechanism of kidney stone formation is not well understood. In order to better understand the pathophysiology for specific kidney stone compositions and systemic diseases associated with kidney stones, endoscopic papillary mapping studies with concurrent biopsies have been conducted. This review will summarize the findings of these studies and proposed mechanisms for thirteen disease processes associated with kidney stones. A review of the literature was performed identifying thirteen studies that endoscopically mapped and biopsied renal papillae of different stone formers...
December 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
Sheilah M Curran-Melendez, Matthew S Hartman, Matthew T Heller, Nancy Okechukwu
Diseases of the kidney often have their names shortened, creating an arcane set of acronyms which can be confusing to both radiologists and clinicians. This review of renal pathology aims to explain some of the most commonly used acronyms within the field. For each entity, a summary of the clinical features, pathophysiology, and radiological findings is included to aid in the understanding and differentiation of these entities. Discussed topics include acute cortical necrosis, autosomal dominant polycystic kidney disease, angiomyolipoma, autosomal recessive polycystic kidney disease, acute tubular necrosis, localized cystic renal disease, multicystic dysplastic kidney, multilocular cystic nephroma, multilocular cystic renal cell carcinoma, medullary sponge kidney, paroxysmal nocturnal hemoglobinuria, renal papillary necrosis, transitional cell carcinoma, and xanthogranulomatous pyelonephritis...
January 28, 2016: Current Problems in Diagnostic Radiology
B Sureka, K Bansal, V Jain, A Arora
No abstract text is available yet for this article.
September 2015: Indian Journal of Nephrology
Dean G Assimos
No abstract text is available yet for this article.
August 2015: Journal of Urology
Gang Xu, Jiaming Wen, Bohan Wang, Zhongyi Li, Chuanjun Du
OBJECTIVE: To evaluate the safety, efficacy, and durability of ureteroscopic laser papillotomy for the treatment of radiographically visible intraductal papillary calculi and/or free collecting system calculi associated with medullary sponge kidney (MSK). METHODS: The medical records of 25 MSK patients who underwent ureteroscopic laser papillotomy were reviewed at our institution from 2010 to 2013. The follow-up was made in our outpatient department. Pain was assessed using a standard verbal analog pain scale...
September 2015: Urology
Naeem Bhojani, Jessica E Paonessa, Tariq A Hameed, Elaine M Worcester, Andrew P Evan, Fredric L Coe, Michael S Borofsky, James E Lingeman
PURPOSE: Nephrocalcinosis is commonly present in primary hyperparathyroidism, distal renal tubular acidosis and medullary sponge kidney disease. To our knowledge it has not been studied in patients with calcium phosphate stones who do not have systemic disease. MATERIALS AND METHODS: We studied patients undergoing percutaneous nephrolithotomy who had calcium phosphate or calcium oxalate stones and did not have hyperparathyroidism, distal renal tubular acidosis or medullary sponge kidney disease...
November 2015: Journal of Urology
Federica Mezzabotta, Rosalba Cristofaro, Monica Ceol, Dorella Del Prete, Giovanna Priante, Alessandra Familiari, Antonia Fabris, Angela D'Angelo, Giovanni Gambaro, Franca Anglani
Medullary nephrocalcinosis is a hallmark of medullary sponge kidney (MSK). We had the opportunity to study a spontaneous calcification process in vitro by utilizing the renal cells of a patient with MSK who was heterozygous for the c.-27 + 18G>A variant in the GDNF gene encoding glial cell-derived neurotrophic factor. The cells were obtained by collagenase digestion of papillary tissues from the MSK patient and from two patients who had no MSK or nephrocalcinosis. These cells were typed by immunocytochemistry, and the presence of mineral deposits was studied using von Kossa staining, scanning electron microscopy analysis and an ALP assay...
April 2015: Journal of Cellular and Molecular Medicine
Wisit Cheungpasitporn, Stephen B Erickson
No abstract text is available yet for this article.
January 2015: Urology Annals
Andrew P Evan, Elaine M Worcester, James C Williams, Andre J Sommer, James E Lingeman, Carrie L Phillips, Fredric L Coe
Medullary sponge kidney (MSK) is associated with recurrent stone formation, but the clinical phenotype is unclear because patients with other disorders may be incorrectly labeled MSK. We studied 12 patients with histologic findings pathognomonic of MSK. All patients had an endoscopically recognizable pattern of papillary malformation, which may be segmental or diffuse. Affected papillae are enlarged and billowy, due to markedly enlarged inner medullary collecting ducts (IMCD), which contain small, mobile ductal stones...
May 2015: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
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