21,237 results match your criteria Nephrolithiasis Urolithiasis
Int Urol Nephrol 2018 Dec 5. Epub 2018 Dec 5.
Nephrology Division, New York University Langone Medical Center, New York, NY, USA.
Purpose: The purpose of the study was to assess the differences in the concentration and function of urinary proteins between patients with cystine stones (CYS) and healthy controls (HC). We postulated that CYS and HC groups would demonstrate different proteomic profiles.
Methods: A pilot study was performed comparing urinary proteomes of 10 patients with CYS and 10 age- and gender-matched HC, using liquid chromatography-mass spectrometry. Read More
Future Med Chem 2018 Dec 6. Epub 2018 Dec 6.
Department of General Biochemistry, Faculty of Biology & Environmental Protection, University of Łódź, Pomorska 141/3, 90-236 Łódź, Poland.
Aim: To evaluate the level of lipid peroxidation in patients with nephrolithiasis before and after extracorporeal shock wave lithotripsy (ESWL).
Materials & Methods: Isoprostane concentration (8-isoPGF) was measured in urine, and thiobarbituric acid reactive substance production in serum and erythrocytes. In addition, the concentrations of selected compounds (uric acid, glucose and creatinine) were measured in serum. Read More
J Cell Mol Med 2018 Dec 1. Epub 2018 Dec 1.
Department of Nephrology, The First Affiliated Hospital of Air Force Medical University, Xi'an, Shaanxi, China.
SUMOylation of proteins is an important regulatory element in modulating protein function and has been implicated in the pathogenesis of numerous human diseases such as cancers, neurodegenerative diseases, brain injuries, diabetes, and familial dilated cardiomyopathy. Growing evidence has pointed to a significant role of SUMO in kidney diseases such as DN, RCC, nephritis, AKI, hypertonic stress and nephrolithiasis. Recently, emerging studies in podocytes demonstrated that SUMO might have a protective role against podocyte apoptosis. Read More
Front Pediatr 2018 16;6:353. Epub 2018 Nov 16.
Scott Department of Urology, Baylor College of Medicine, Houston, TX, United States.
While small non-obstructive stones in the adult population are usually observed with minimal follow-up, the same guidelines for management in the pediatric population have not been well-studied. We evaluate the clinical outcomes of small non-obstructing kidney stones in the pediatric population to better define the natural history of the disease. In this IRB-approved retrospective study, patients with a diagnosis of kidney stones from January 2011 to March 2017 were identified using ICD9 and ICD10 codes. Read More
Nephrol Ther 2018 Nov 29. Epub 2018 Nov 29.
Laboratoire d'anatomie pathologique, CHRU de Nancy, 5, rue de Morvan, 54500 Vandœuvre-lès-Nancy, France.
Extraintestinal manifestations in inflammatory bowel disease involve most frequently the joints, the skin, the eyes, the liver and the biliary tract. Renal involvement is rare, and manifested as nephrolithiasis, tubulointerstitial nephritis, glomerulonephritis and amyloidosis. In patients with inflammatory bowel disease, renal disease is most frequently due to treatment nephrotoxicity and rarely as a guenine extraintestinal manifestation of inflammatory bowel disease. Read More
J Endourol Case Rep 2018 29;4(1):190-194. Epub 2018 Nov 29.
Department of Urology, University of California, Irvine, California.
A minority of urologists performing percutaneous nephrolithotomy (PCNL) achieve their own nephrostomy access. In an effort to simplify the access part of PCNL, we herein describe our initial experience with endoscopic-guided retrograde percutaneous access in the prone split-leg position. After informed consent, a confirmed negative urine culture, and 1 week pretreatment with tamsulosin, four carefully selected PCNL patients underwent endoscopic-guided retrograde access in a prone split-leg position using the Lawson catheter. Read More
Biomed Res Int 2018 1;2018:3061742. Epub 2018 Nov 1.
Department of Urology, University of California, Irvine, USA.
Purpose: Coconut water has long been touted for its medicinal qualities including natural hydration. We sought to determine whether its consumption would induce changes to urinary lithogenic factors beyond changes in urine volume.
Materials And Methods: After Institutional Review Board approval, volunteers with no prior history of nephrolithiasis were recruited. Read More
Rev Prat 2017 May;67(5):543-549
Service de physiologieexplorations fonctionnelles, Hôpital européen Georges-Pompidou, AP-HP, Paris, France.
Urolithiasis: assessment and metabolic management. Nephrolithiasis is a very common and recurrent disease. A minimal biological assessment is indicated in all patients. Read More
World J Urol 2018 Dec 3. Epub 2018 Dec 3.
Sorbonne Université, GRC n°20, Groupe de Recherche Clinique Sur La Lithiase Urinaire, AP-HP, Hôpital Tenon, 75020, Paris, France.
Purpose: To evaluate how variable working distances between the laser fiber and the stone influence ablation volume.
Methods: A laser fiber was fixed on a robotic arm perpendicular to an artificial stone. A single laser pulse was triggered at different working distances (0-2. Read More
World J Nephrol 2018 Nov;7(7):129-142
Calcium Signaling Laboratory, Research Service, Veterans Affairs Medical Center, Washington, DC 20422, United States.
Nephrolithiasis is increasing in developed and developing countries at an alarming rate. With the global spike in kidney stone diseases, it is crucial to determine what risk factors are influencing the current global landscape for kidney stones. Our aims for this review are: to identity and analyze the four categories of risk factors in contributing to the global scale of stone formation: lifestyle, genetics, diet, and environment; and discuss preventative measures for kidney stone formation. Read More
Medicine (Baltimore) 2018 Nov;97(48):e13210
Rheumatology Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
Rationale: Hypophosphatasia is an inborn error of metabolism that can appear any time in life, mainly with bone manifestations due to low alkaline phosphatase activity. Asfotase alfa is a specific enzyme reposition treatment that has shown promising results in children; however, there are few reports about the outcomes in adult patients.
Patient Concerns: A 36-year-old male presented with an early history of craniosynostosis, short stature, and multiple fractures since the age of 13 years-which needed numerous surgical corrections. Read More
Eur J Paediatr Neurol 2018 Nov 20. Epub 2018 Nov 20.
Dokuz Eylul University, Division of Pediatric Metabolism and Nutrition, Izmir, Turkey. Electronic address:
Purpose: Ketogenic diet (KD) is an effective non-pharmacological treatment for drug-resistant epilepsy. The aim of this study was to investigate the efficacy, tolerability and complications of olive oil-based KD in epileptic children.
Method: In this single-center, prospective study, patients were followed up at 1, 3, 6 and 12 months after KD initiation. Read More
Clin Calcium 2018 ;28(12):1627-1634
Department of Metabolism, Endocrinology and Molecular Medicine, Osaka City University Graduate School of Medicine, Osaka, Japan.
Primary hyperparathyroidism(PHPT)is one of the common endocrine disorders, which results clinically in secondary osteoporosis. PHPT also occurs nephrolithiasis, muscle weakness, cardiac and psychiatric abnormalities even in a mild or asymptomatic disease. Parathyroidectomy(PTX)is the only definitive treatment for PHPT. Read More
Int J Rheum Dis 2018 Nov 28. Epub 2018 Nov 28.
Department of Internal Medicine, Midorigaoka Hospital, Takatsuki-shi, Japan.
Objective: To clarify the clinical and laboratory characteristics of nephrolithiasis in gout by computed tomography (CT).
Methods: In 350 gout patients, unenhanced CT was performed at the 1st visit to hospital. Calculus density spots exceeding 1 mm in diameter with a CT value >120 Hounsfield units in the kidneys were defined as kidney stones. Read More
Urol Int 2018 Nov 27:1-7. Epub 2018 Nov 27.
Department of Urology, St. Elisabeth Hospital, Straubing, Germany.
Background: The Post-Ureteroscopic Lesion Scale (PULS) is a validated, standardised scale that classifies iatrogenic ureteral lesions during ureteroscopy (URS).
Objective: To determine risk factors for the various PULS-grades caused by URS.
Method: We prospectively investigated the independent influence of various risk factors in correlation with PULS-Grade 1+ and 2+ on 307 patients with ureterorenoscopic stone treatment from 14 German urologic departments. Read More
Urolithiasis 2018 Nov 26. Epub 2018 Nov 26.
Nephrology Division, NYU Langone Health, New York, NY, USA.
Careful phenotyping of patients to classify those with kidney stones has a long and important history in revealing the chemical basis for stone formation. Advances in our genetic understanding of kidney stones will lead to incredible insights regarding the pathophysiology of this common disorder. At this time, both evaluation of urine chemistry and genotyping of patients are extremely useful in the setting of a university and research-based kidney stone clinic. Read More
Matern Health Neonatol Perinatol 2018 19;4:23. Epub 2018 Nov 19.
1Division of Pediatrics, University of North Carolina at Chapel Hill, UNC Hospitals 101 Manning Dr. 4th Floor, Chapel Hill, NC CB 7596 USA.
Furosemide is a potent loop diuretic commonly and variably used by neonatologists to improve oxygenation and lung compliance in premature infants. There are several safety concerns with use of furosemide in premature infants, specifically the risk of sensorineural hearing loss (SNHL), and nephrocalcinosis/nephrolithiasis (NC/NL). We conducted a systematic review of all trials and observational studies examining the association between these outcomes with exposure to furosemide in premature infants. Read More
Urology 2018 Nov 22. Epub 2018 Nov 22.
Emory University School of Medicine. Electronic address:
Diaphragmatic herniations of the ureter are a rare occurrence overall, with fewer than 10 cases reported. Obstructing nephrolithiasis in the setting of diaphragmatic ureteral herniation has sparsely been documented. Management options to consider include ureteroscopy and laser lithotripsy to alleviate obstruction in herniated ureters. Read More
Nutrition 2018 Aug 22;59:83-89. Epub 2018 Aug 22.
Kidney Stone Clinic, Medical-Geriatric-Rehabilitation Department, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy; Department of Medicine and Surgery, University of Parma, Parma, Italy.
Objectives: Urinary hippuric acid (HA) and citrate can represent useful biomarkers of fruit and vegetable (FAV) intake in nephrolithiasis. However, their clinical significance across the life span has been poorly investigated. The aim of this study was to investigate the association between the two biomarkers with FAV intake across different age groups and sexes in a large group of stone formers (SFs). Read More
Urolithiasis 2018 Nov 23. Epub 2018 Nov 23.
UOC Nefrologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Deciding whether to accept a donor with nephrolithiasis is a multifaceted task because of the challenge of finding enough suitable donors while at the same time ensuring the safety of both donors and recipients. Until not long ago, donors with a history of renal stones or with stones emerging during screening on imaging were not considered ideal, but recent guidelines have adopted less stringent criteria for potential donors at risk of stones. This review goes through the problems that need to be approached to arrive at a wise clinical decision, balancing the safety of donors and recipients with the need to expand the organ pool. Read More
J Surg Res 2018 Dec 7;232:564-569. Epub 2018 Aug 7.
Division of Endocrine Surgery, Department of Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin. Electronic address:
Background: Nephrolithiasis is a classic, treatable manifestation of primary hyperparathyroidism (PHPT). We examined predictors of kidney stone formation in PHPT patients and determined how efficiently the diagnosis of PHPT is made in patients whose initial presentation is with stones.
Materials And Methods: We performed a retrospective analysis of surgically treated PHPT patients, comparing 247 patients who were kidney stone formers and 1047 patients with no kidney stones. Read More
Urolithiasis 2018 Nov 20. Epub 2018 Nov 20.
Division of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, 3010, Bern, Switzerland.
Twin and genealogy studies suggest a strong genetic component of nephrolithiasis. Likewise, urinary traits associated with renal stone formation were found to be highly heritable, even after adjustment for demographic, anthropometric and dietary covariates. Recent high-throughput sequencing projects of phenotypically well-defined cohorts of stone formers and large genome-wide association studies led to the discovery of many new genes associated with kidney stones. Read More
Urolithiasis 2018 Nov 20. Epub 2018 Nov 20.
Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK.
Here we define precision medicine approaches and discuss how these may be applied to renal stone-formers to optimise diagnosis and a management. Using the gene discovery of monogenic stone disorders as examples, we discuss the benefits of personalising therapies for renal stone-formers to provide improved prevention and treatment of these disorders. Read More
Urolithiasis 2018 Nov 20. Epub 2018 Nov 20.
Genomic Medicine Institute, Department of Nephrology and Hypertension, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
Urinary stones tend to cluster in families. Of the known risk factors, evidence is strongest for heritability of urinary calcium excretion. Recent studies suggest that other stone risk factors may have heritable components including urinary pH, citrate and magnesium excretion, and circulating vitamin D concentration. Read More
Nefrologia 2018 Nov 17. Epub 2018 Nov 17.
Servicio de Nefrología, Hospital Universitario Doce de Octubre, Madrid, España; Departamento de Medicina, Universidad Complutense, Madrid, España.
Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterised by hypercalcaemia and parathormone increase. Decreased glomerular filtration rate (<60ml/min) continues to be a parathyroidectomy (PTX) criterion in asymptomatic PHPT. The influence of PTX on renal function evolution is the subject of debate. Read More
Diagn Pathol 2018 Nov 20;13(1):89. Epub 2018 Nov 20.
Department of Pathology, Koc University School of Medicine, Topkapi / Zeytinburnu, 34010, Istanbul, Turkey.
Background: Massive localized lymphedema (MLL) is a non-neoplastic benign soft tissue lesion that may be confused with sarcomas or other neoplastic proliferations both clinically and morphologically. Most occur in morbidly obese adults on the lower extremities. The objective of this article is to document a case of MLL in the retroperitoneal cavity which is a previously unreported site for this lesion, and to highlight its unusual clinical features. Read More
Pediatr Clin North Am 2019 Feb;66(1):179-207
The Research Institute of the McGill University Health Centre, 1001 Boulevard Décarie, Room EM1.2232, Montreal, Quebec H4A3J1, Canada.
Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeutic challenges with consequences for growth and bone development and portends a high risk of fractions and poor bone healing, dental problems and nephrolithiasis/nephrocalcinosis. Conventional treatment consists of PO4 supplements and calcitriol requiring monitoring for treatment-emergent adverse effects. FGF23 measurement, where available, has implications for the differential diagnosis of hypophosphatemia syndromes and, potentially, treatment monitoring. Read More
Pediatr Clin North Am 2019 Feb;66(1):169-178
Division of Nephrology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:
Dent disease is an X-linked form of chronic kidney disease characterized by hypercalciuria, low molecular weight proteinuria, nephrocalcinosis, and proximal tubular dysfunction. Clinical presentation is highly variable. Male patients may present with early-onset rickets, recurrent nephrolithiasis, or insidiously with asymptomatic proteinuria or chronic kidney disease. Read More
Pediatr Clin North Am 2019 Feb;66(1):135-157
Division of Nephrology, Department of Pediatrics, The Montreal Children's Hospital, McGill University Health Centre, Room B RC.6651, Montreal, Quebec H4A 3J1, Canada; Al Jalila Children's Hospital, Al Jadaf PO Box 7662, Dubai, UAE. Electronic address:
Renal tubular acidosis should be suspected in poorly thriving young children with hyperchloremic and hypokalemic normal anion gap metabolic acidosis, with/without syndromic features. Further workup is needed to determine the type of renal tubular acidosis and the presumed etiopathogenesis, which informs treatment choices and prognosis. The risk of nephrolithiasis and calcinosis is linked to the presence (proximal renal tubular acidosis, negligible stone risk) or absence (distal renal tubular acidosis, high stone risk) of urine citrate excretion. Read More
J Cell Mol Med 2018 Nov 18. Epub 2018 Nov 18.
Endourology and Stone Disease Section, Division of Urology, University of Sao Paulo Medical School, Sao Paulo, Brazil.
The aim of our study was to determine regions of loss of heterozygosity, copy number variation analysis, and single nucleotide polymorphisms (SNPs) in Brazilian patients with cystinuria. A linkage study was performed using DNA samples from six patients with cystinuria and six healthy individuals. Genotyping was done with the Genome-Wide Human SNP 6. Read More
Kidney Int Rep 2018 Nov 29;3(6):1363-1372. Epub 2018 Jul 29.
Division of Nephrology, Department of Medicine, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Bangkok, Thailand.
Introduction: Little is known of the clinical outcomes of secondary oxalate nephropathy. To inform clinical practice, we performed a systematic review of case reports and case series to examine the clinical characteristics and outcomes of patients with secondary oxalate nephropathy.
Methods: Electronic databases were searched for case reports and case series of individual cases or cohorts of patients with biopsy-proven oxalate nephropathy in native or transplanted kidneys from 1950 until January 2018. Read More
Urolithiasis 2018 Nov 16. Epub 2018 Nov 16.
Nephrology and Dialysis Unit, Postgraduate School of Nephrology, IRCCS San Raffaele Scientific Institute, Vita Salute University, 20132, Milan, Italy.
Calcium-sensing receptor (CaSR) is a plasma-membrane G protein-coupled receptor activated by extracellular calcium and expressed in kidney tubular cells. It inhibits calcium reabsorption in the ascending limb and distal convoluted tubule when stimulated by the increase of serum calcium levels; therefore, these tubular segments are enabled by CaSR to play a substantial role in the regulation of serum calcium levels. In addition, CaSR increases water and proton excretion in the collecting duct and promotes phosphate reabsorption and citrate excretion in the proximal tubule. Read More
Pediatr Nephrol 2018 Nov 15. Epub 2018 Nov 15.
Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Background: Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary purine metabolism disorder that causes kidney stones and chronic kidney disease (CKD). The purpose of this study was to examine the course of APRT deficiency in patients who presented in childhood.
Methods: The disease course of 21 (35%) patients in the APRT Deficiency Registry of the Rare Kidney Stone Consortium, who presented with manifestations of APRT deficiency and/or were diagnosed with the disorder before the age of 18 years, was studied. Read More
Clin Pract Cases Emerg Med 2018 Nov 28;2(4):334-337. Epub 2018 Sep 28.
Inspira Medical Center, Department of Emergency Medicine, Vineland, New Jersey.
Transient global amnesia (TGA) is typified by an abrupt and transient anterograde amnesia, "with repetitive questioning and often variable retrograde amnesia persisting up to 24 hours." A 54-year-old male presented to our emergency department with paroxysms of left-sided flank pain, suggestive of renal colic. Computed tomography (CT) of the abdomen/pelvis revealed a three-millimeter left ureterovesicular-junction calculus. Read More
Rheumatology (Oxford) 2018 Jul;57(7):1180-1185
Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Objectives: Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian Inheritance in Man (OMIM) gene reference 300661. This condition is thought to rarely affect women, and when it does, the clinical presentation is mild. We describe a 16-year-old African American female who developed progressive tophi, nephrolithiasis and acute kidney failure due to urate overproduction. Read More
Surgery 2018 Nov 9. Epub 2018 Nov 9.
Section of Endocrine Surgery, UCLA David Geffen School of Medicine, Los Angeles, CA.
Background: Patients with primary hyperparathyroidism are at risk for skeletal and renal end-organ damage.
Methods: We studied patients with biochemically confirmed primary hyperparathyroidism from 1995-2014 and quantified the frequency of osteoporosis, nephrolithiasis, hypercalciuria, and decrease in renal function.
Results: The cohort comprised 9,485 patients. Read More
J Urol 2018 Sep 30;200(3):493. Epub 2018 May 30.
Medicine (Baltimore) 2018 Nov;97(45):e13037
Department of Urology, Yangzhou No.1 People's Hospital, Yangzhou.
The objective of this study is to find about the association between calcium-sensing receptor (CaSR) genetic variants and susceptibility to nephrolithiasis in the Chinese Han population.This hospital-based case-control study included 319 nephrolithiasis cases and 378 healthy controls subjects. Two SNPs in CaSR were genotyped using the TaqMan assay. Read More
Front Physiol 2018 23;9:1490. Epub 2018 Oct 23.
Institute for Neurophysiology, Hannover Medical School, Hanover, Germany.
Dent disease 1 (DD1) is a renal salt-wasting tubulopathy associated with mutations in the Cl/H antiporter ClC-5. The disease typically manifests with proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis but is characterized by large phenotypic variability of no clear origin. Several DD1 cases have been reported lately with additional atypical hypokalemic metabolic alkalosis and hyperaldosteronism, symptoms usually associated with another renal disease termed Bartter syndrome (BS). Read More
Am J Case Rep 2018 Nov 8;19:1334-1337. Epub 2018 Nov 8.
Fourth Surgical Department, Aristotle University of Thessaloniki, General Hospital "G. Papanikolaou", Thessaloniki, Greece.
BACKGROUND Solitary parathyroid adenomas are the leading cause of primary hyperparathyroidism in 0% to 85% of cases. Diagnosis of parathyroid adenoma is based on typical clinical presentation of hypercalcemia, biochemical profile, and modern imaging studies. The purpose of this article is to present the diagnostic and therapeutic approach used for a 73-year-old female patient with a giant parathyroid adenoma measuring 5×2. Read More
AJR Am J Roentgenol 2018 Nov 7:1-4. Epub 2018 Nov 7.
1 Center for Evidence-Based Imaging, Brigham and Women's Hospital, 75 Francis St, Boston, MA 02115.
Objective: The purpose of this study was to evaluate the impact of an appropriate use criterion (AUC) for renal colic based on local best practice, implemented as electronic clinical decision support (CDS), on the emergency department (ED) use of CT for patients with suspected nephrolithiasis.
Materials And Methods: This retrospective cohort study was performed in the EDs of a level I trauma center (study site) and local comparable hospital (control site). An AUC for patients younger than 50 years with a history of uncomplicated nephrolithiasis presenting with renal colic was developed by an interdisciplinary emergency medicine, emergency radiology, and urology team and embedded as CDS. Read More
Case Rep Nephrol Dial 2018 Sep-Dec;8(3):223-229. Epub 2018 Oct 4.
Lehigh Valley Health Network, Allentown, Pennsylvania, USA.
Background: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mutation in the gene, resulting in deficiency of the alanineglyoxylate:aminotransferase enzyme. It is characterized by accumulation of oxalate in the kidneys and other organs.
Case Presentation: A Syrian woman with a history of nephrolithiasis and heterozygosity for factor V Leiden and prothrombin gene mutations presented with postpartum renal failure. Read More
Horm Metab Res 2018 Nov 5;50(11):797-802. Epub 2018 Nov 5.
Universitair Ziekenhuis Brussel, Endocrinology, Brussel, Belgium.
Normocalcemic primary hyperparathyroidism (NPHPT) is a formally recognized variant of primary hyperparathyroidism (PHPT), characterized by normal total and ionized serum calcium concentrations and elevated parathyroid hormone (PTH) levels, in the absence of secondary causes for hyperparathyroidism. NPHPT has been studied previously, but data are limited and confounded. We aimed to compare the clinical and biochemical data of normocalcemic and hypercalcemic subjects in a hospital-based population. Read More
J Bone Miner Res 2018 Nov 5. Epub 2018 Nov 5.
Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, UK.
Renal calcification (RCALC) resulting in nephrolithiasis and nephrocalcinosis, which affects ∼10% of adults by 70 years of age, involves environmental and genetic etiologies. Thus, nephrolithiasis and nephrocalcinosis occurs as an inherited disorder in ∼65% of patients, and may be associated with endocrine and metabolic disorders including: primary hyperparathyroidism, hypercalciuria, renal tubular acidosis, cystinuria, and hyperoxaluria. Investigations of families with nephrolithiasis and nephrocalcinosis have identified some causative genes, but further progress is limited as large families are unavailable for genetic studies. Read More
Urology 2018 Nov 1. Epub 2018 Nov 1.
Indiana University School of Medicine, Department of Urology, Indianapolis, IN. Electronic address:
Objectives: To assess stone free rates following URS for renal calculi at our institution using low dose renal only CT (LDCT).
Methods: A retrospective review of patients undergoing flexible URS for renal stones only with subsequent CT scan within 3 months. Meticulous basketing of all stone fragments was performed whenever possible. Read More
J Med Genet 2018 Nov 1. Epub 2018 Nov 1.
Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
Background: Copa syndrome is a rare autosomal dominant disorder with abnormal intracellular vesicle trafficking. The objective of this work is to expand the knowledge about this disorder by delineating phenotypic features of an unreported COPA family.
Methods And Results: A heterozygous missense variant (c. Read More
J Nephrol 2018 Oct 31. Epub 2018 Oct 31.
Tianjin University of Traditional Chinese Medicine, Tianjin, 300193, China.
The abnormal metabolism of uric acid results in many disease such as chronic kidney disease, hyperuricemia, nephrolithiasis, gout, hypertension, vascular disease and so on. Serum uric acid levels are maintained by the balance between production and elimination. There are many factors that maintain the balance of serum uric acid. Read More
Saudi J Kidney Dis Transpl 2018 Sep-Oct;29(5):1203-1206
Department of Pediatric Nephrology, Sheikh Khalifa Medical City, Abu Dhabi, UAE.
The incidence of urolithiasis in children has shown an increase in recent years which may be attributed to changing dietary patterns, sedentary lifestyles, and obesity. Among the various etiologies for renal stones in children, two rare entities worth mentioning are cystinuria and 2, 8-dihydroxyadenine (DHA) urolithiasis. Cystinuria is an inherited cause of nephrolithiasis which occurs due to impaired cystine reabsorption in the renal proximal tubule. Read More
Pediatr Endocrinol Rev 2018 Sep;16(1):194-202
First Department of Paediatrics "Agia Sophia" Children's Hospital, National Kapodistrian University of Athens, Athens, Greece.
Management of hypoparathyroidism (hypoPT), depends on the etiology and the severity of hypocalcemia. Treatment goals include control of hypocalcemic symptoms preserving serum calcium in the low-normal range and phosphate in the high normal range. While correction of serum calcium to low-normal range does not fully correct mineral and bone metabolism it may be associated with increased risk of complications such as nephrolithiasis, nephrocalcinosis and soft tissue calcifications. Read More
Zhonghua Wai Ke Za Zhi 2018 Oct;56(10):733-736
Department of Urology, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.
Calcium oxalate nephrolithiasis is the common disease of urinary surgery, its exact pathogenesis is still unclear.It is believed that the renal inflammatory injury induced by cell-crystal reaction plays an important role in the formation of intrarenal calcium oxalate crystals. Recent studies indicated that inflammation induced by cell-crystal reaction can cause renal cell damage, stimulate intracellular expression of NADPH oxidase, trigger the massive production of reactive oxygen species, activate nuclear factor-κB signaling pathway, release a large number of inflammatory factors, and cause inflammatory cascade effect of the kidney, thus promoting the accumulation, nucleation and growth of calcium salt crystals, eventually leading to the formation of intrarenal crystals and even stones. Read More