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Medullary sponge kidney

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 29, 2016: 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
Takahiro Uchida, Hanako Takechi, Naoki Oshima, Hiroo Kumagai
No abstract text is available yet for this article.
January 2015: Iranian Journal of Kidney Diseases
Jianxing Li, Bo Xiao, Weiguo Hu, Bo Yang, Liang Chen, Hao Hu, Xiaofeng Wang
BACKGROUND: Percutaneous nephrolithotomy (PCNL) was mostly performed with fluoroscopy and/or ultrasonography. The safety and feasibility of PCNL performed totally under ultrasound are not clearly defined. Therefore, we introduce the 9-year experience of 8 025 ultrasound guided PCNL procedures from multiple centers in China performed by the same surgeon, to evaluate the feasibility and security of this technique. METHODS: From September 2004 to August 2013, 8 025 cases, 4 398 males (54...
2014: Chinese Medical Journal
Arnaud Dessombz, Emmanuel Letavernier, Jean-Philippe Haymann, Dominique Bazin, Michel Daudon
PURPOSE: Calcium stones represent 85% to 90% of all urinary calculi, including various crystalline compositions and etiological conditions. Calcium phosphate accounts for 10% to 15% of cases. These stones are mainly related to 3 groups of risk factors, including calcium or phosphate metabolism disturbance, renal acidification defects and urinary tract infection. Identifying the stone etiology often requires extensive metabolic evaluation. We assessed whether stone analysis including morphological typing in addition to stone composition could be a valuable help for diagnosis...
May 2015: Journal of Urology
Pedro Francisco Ferraz de Arruda, Márcio Gatti, José Germano Ferraz de Arruda, Fernando Nestor Fácio, Luis Cesar Fava Spessoto, Laísa Ferraz de Arruda, José Maria Pereira de Godoy, Moacir Fernandes Godoy
INTRODUCTION: Nephrocalcinosis consists of the deposition of calcium salts in the renal parenchyma and is considered the mixed form when it involves the renal cortex and medulla. The main etiological agents of this condition are primary hyperparathyroidism, renal tubular acidosis, medullary sponge kidney, hyperoxaluria and taking certain drugs. These factors can lead to hypercalcemia and/or hypercalciuria, which can give rise to nephrocalcinosis. CASE PRESENTATIONS: Patient 1 was a 48-year-old Caucasian woman with a history of bilateral nephrocalcinosis causing chronic kidney failure...
October 27, 2014: Journal of Medical Case Reports
P S Priyamvada, S Parameswaran, M Sandeep, V Shankar, R P Swaminathan
The term hemihyperplasia refers to an enlargement of body parts beyond the normal asymmetry. Hemihyperplasia can be isolated or associated with various well-described malformation syndromes. Medullary sponge kidney (MSK) has been described with isolated and syndromic hemihyperplasia; the actual prevalence is not known The hemi hypertrophy can be so subtle that it may be easily overlooked. MSK need not be limited to the side of hemihyperplasia - most often it is bilateral. Around 33 cases has been reported from different parts of the world of which 15 cases are isolated hemi hyperplasia (IHH), the remaining occurring in the context of various malformation syndromes So far only one case has been reported from India...
July 2014: Indian Journal of Nephrology
Jocelyn C Leung
Genetic disorders of the kidney include cystic diseases, metabolic diseases and immune glomerulonephritis. Cystic diseases include autosomal dominant and recessive polycystic kidney disease (ADPKD, ARPKD, respectively). Neonates with enlarged, cystic kidneys should be evaluated for PKD. Patients with ADPKD have cysts and renal enlargement. Most patients present with hypertension, hematuria or flank pain; the most common extrarenal manifestation is polycystic liver disease. Oligohydramnios, bilaterally enlarged kidneys and decreased urine are featured in utero in ARPKD...
2014: Current Pediatric Reviews
Gioia Di Egidio, Stefano Masciovecchio, Pietro Saldutto, Giuseppe Paradiso Galatioto, Carlo Vicentini
The medullary sponge kidney is a malformation characterized by Bellini ducts' ectasias and often by nephrocalcinosis. Scientific literature demonstrates and emphasizes how the Rx-urography plays a primary role to achieve diagnostic certainty in cases of suspected MSK. Pathognomonic urographic aspects in cases of medullary sponge kidney are defined as "bouquet of flowers", "bunch of grapes" or "brush". None of the other methods of imaging available today has the same diagnostic accuracy.
October 2014: Urologia
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