2,698 results match your criteria Hyperoxaluria


Recent advances in the identification and management of inherited hyperoxalurias.

Urolithiasis 2018 Dec 10. Epub 2018 Dec 10.

Mayo Clinic, Rochester, MN, USA.

Primary hyperoxaluria (PH) is caused by genetic mutations resulting in oxalate overproduction leading to nephrolithiasis, nephrocalcinosis, extrarenal manifestations, chronic kidney disease, and end-stage renal disease. Advances in genetic testing techniques have improved our ability to efficiently and effectively obtain a definitive diagnosis of PH as well as easily screen at-risk family members. Similarly, advances in technologies related to intervening at the genetic and molecular level promise to change the way we treat patients with PH. Read More

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December 2018

Urinary metabolic abnormalities in children with idiopathic hematuria.

J Pediatr Urol 2018 Nov 10. Epub 2018 Nov 10.

Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Background: Hematuria, either macroscopic or microscopic, is an incidental finding of multiple nephrologic or urologic disorders. Disturbances of urine inhibitors or promotors have been suggested as the potential causes of isolated idiopathic hematuria in children and its recurrence. Meanwhile, appropriate treatment of these risk factors might improve secondary asymptomatic or macroscopic hematuria. Read More

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November 2018

Evaluation of Oxalate Osteopathy Secondary to Hyperoxaluria With 18F-FDG PET/CT and 99mTc-HMDP Bone Scan.

Clin Nucl Med 2018 Dec 3. Epub 2018 Dec 3.

We report a case of a 69-year-old woman with primary hyperoxaluria type I, who developed a severe hypercalcemia despite controlled secondary hyperparathyroidism. Bone scintigraphy showed diffuse increased uptake in axial and peripheral skeleton. F-FDG PET/CT showed countless striking hypermetabolic foci, interesting 2 types of lesions (joint calcifications and periosteal resorptions). Read More

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December 2018

Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones.

World J Urol 2018 Nov 28. Epub 2018 Nov 28.

Department of Pediatric Urology, Xin Hua Hospital Affiliated To Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.

Purpose: We analyzed primary hyperoxaluria (PH) genotype and phenotype in Chinese children. Vitamin B response in the patients with genetically confirmed PH1 was also studied.

Methods: We, respectively, analyzed 80 children with urinary stones. Read More

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November 2018

Combined liver-kidney transplantation for primary hyperoxaluria type I in children: Single Center Experience.

Pediatr Transplant 2018 Nov 26:e13313. Epub 2018 Nov 26.

Pediatric Hepatology Unit, Faculty of Medicine, Department of Pediatrics, Cairo University, Cairo, Egypt.

Primary hyperoxalurias are rare inborn errors of metabolism with deficiency of hepatic enzymes that lead to excessive urinary oxalate excretion and overproduction of oxalate which is deposited in various organs. Hyperoxaluria results in serious morbid-ity, end stage kidney disease (ESKD), and mortality if left untreated. Combined liver kidney transplantation (CLKT) is recognized as a management of ESKD for children with hyperoxaluria type 1 (PH1). Read More

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November 2018
2 Reads

Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.

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

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November 2018
2 Reads

Secondary Oxalate Nephropathy: A Systematic Review.

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

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November 2018
4 Reads

Molecular basis of primary hyperoxaluria: clues to innovative treatments.

Urolithiasis 2018 Nov 14. Epub 2018 Nov 14.

Department of Experimental Medicine, University of Perugia, P.le Gambuli 1, 06132, Perugia, Italy.

Primary hyperoxalurias (PHs) are rare inherited disorders of liver glyoxylate metabolism, characterized by the abnormal production of endogenous oxalate, a metabolic end-product that is eliminated by urine. The main symptoms are related to the precipitation of calcium oxalate crystals in the urinary tract with progressive renal damage and, in the most severe form named Primary Hyperoxaluria Type I (PH1), to systemic oxalosis. The therapies currently available for PH are either poorly effective, because they address the symptoms and not the causes of the disease, or highly invasive. Read More

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November 2018
4 Reads

Fatal aspergillosis of the renal vasculature in a combined liver-kidney transplant recipient.

Indian J Med Microbiol 2018 Jul-Sep;36(3):444-446

Department of Molecular Diagnostics Laboratory and Transplantation Immunology, Apollo Hospitals, Chennai, Tamil Nadu, India.

Invasive aspergillosis remains a problem in solid organs and haematopoietic stem cell transplants. We report a case of 12-year-old female with primary hyperoxaluria with regular haemodialysis for the end-stage renal disease. She underwent a combined liver and renal transplantation which got infected by aspergillosis. Read More

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November 2018
1 Read

The Effect of Calcium and Vitamin B6 Supplementation on Oxalate Excretion in a Rodent Gastric Bypass Model of Enteric Hyperoxaluria.

Urology 2018 Nov 7. Epub 2018 Nov 7.

Department of Urology, University of Florida, Gainesville, FL. Electronic address:

Objective: To test the effect of calcium and vitamin B6 therapies on urinary oxalate excretion in a rodent model of enteric hyperoxaluria after Roux-en Y gastric bypass (RYGB) surgery.

Methods: Obese male Sprague-Dawley rats underwent sham (n = 7) or RYGB (n = 10). Animals were maintained on low oxalate (1. Read More

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November 2018
5 Reads

[Therapeutic compliance in patients with renal lithiasis and biochemical risk factors.]

Arch Esp Urol 2018 Nov;71(9):765-771

Servicio de Urología. Hospital Universitario Virgen del Rocío. Sevilla. España.

Objective: To evaluate patient compliance with treatment for urinary lithiasis and to detect differences in adherence, causes of this behavior and associated factors.

Methods: We performed a retrospective study of 93 patients with positive urinary metabolic study (UMS) for lithogenic pathology, diagnosed between 2013 and 2015, gathering data from the digital medical records and a structured telephonic questionnaire in 75 of them. Results were analyzed using the X2 test. Read More

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November 2018
5 Reads

Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report.

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

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October 2018
1 Read

An N-ethyl-N-nitrosourea (ENU)-induced Tyr265Stop mutation of the DNA polymerase accessory subunit gamma 2 (Polg2) is associated with renal calcification in mice.

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

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November 2018
6 Reads

Absence of the sulfate transporter SAT-1 (Slc26a1) has no impact on oxalate handling by mouse intestine and does not cause hyperoxaluria or hyperoxalemia.

Am J Physiol Gastrointest Liver Physiol 2018 Nov 1. Epub 2018 Nov 1.

Pathology, U of FL, United States.

The anion exchanger SAT-1 (Sulfate Anion Transporter 1; Slc26a1), is considered an important regulator of oxalate and sulfate homeostasis but the mechanistic basis of these critical roles remain undetermined. Previously, characterization of the SAT-1 knockout (KO) mouse suggested the loss of SAT-1 mediated oxalate secretion by the intestine was responsible for the hyperoxaluria, hyperoxalemia and calcium oxalate urolithiasis reportedly displayed by this model. To test this hypothesis, we compared the transepithelial fluxes of C-oxalate, SO and Cl across isolated, short-circuited segments of the distal ileum, cecum and distal colon from wild-type (WT) and SAT-1 KO mice. Read More

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November 2018
1 Read

Rapid liquid chromatography tandem mass-spectrometry screening method for urinary metabolites of primary hyperoxaluria.

Ann Clin Biochem 2018 Nov 14:4563218811365. Epub 2018 Nov 14.

1 Department of Manual Biochemistry, Health Services Laboratories, London, UK.

Background: The primary hyperoxalurias are inherited disorders of glyoxylate metabolism that lead to overproduction of oxalate, urolithiasis and renal failure. Delays in diagnosis can be costly in terms of preserving renal function. Here we present a rapid liquid chromatography tandem mass-spectrometry screening method for the analysis of metabolites (primary hyperoxaluria metabolites) produced in excess by primary hyperoxaluria patients that include glycolate, glycerate and 2,4-dihydroxyglutarate. Read More

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November 2018
3 Reads

Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.

Curr Med Sci 2018 Oct 20;38(5):749-757. Epub 2018 Oct 20.

Institute of Organ Transplantation, Huazhong University of Science and Technology, Wuhan, 430030, China.

Primary hyperoxaluria type 1 (PH1) is a rare but devastating autosomal recessive inherited disease caused by mutations in gene AGXT. Pathogenic mutations of AGXT were mostly reported in Caucasian but infrequently in Asian, especially in Chinese. To update the genotypes of PH1 in the Chinese population, we collected and identified 7 Chinese probands with PH1 from 2013 to 2017 in our center, five of whom had delayed diagnosis and failed in kidney transplantation. Read More

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October 2018
1 Read

Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome.

Turk J Pediatr 2018 ;60(2):210-215

Departments of Pediatric Nephrology, Kayseri Training and Research Hospital, Kayseri, Turkey.

Baştuğ F, Nalçacıoğlu H, Baş VN, Tekatlı-Çelik B, Çetinkaya H, Yel S. Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. Turk J Pediatr 2018; 60: 210-215. Read More

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January 2018
3 Reads

The Long Pentraxin PTX3 Is an Endogenous Inhibitor of Hyperoxaluria-Related Nephrocalcinosis and Chronic Kidney Disease.

Front Immunol 2018 25;9:2173. Epub 2018 Sep 25.

Nephrologisches Zentrum, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.

The long pentraxin 3 (PTX3) exerts a variety of regulatory functions in acute and chronic tissue inflammation. In particular, PTX3 acts as an opsonin for a variety of pathogens and endogenous particles. We hypothesized that PTX3 would exhibit opsonin-like functions toward calcium oxalate crystals, too, and inhibit crystal growth. Read More

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September 2018
2 Reads

Peroxisome proliferator-activated receptor γ modulates renal crystal retention associated with high oxalate concentration by regulating tubular epithelial cellular transdifferentiation.

J Cell Physiol 2019 Mar 14;234(3):2837-2850. Epub 2018 Oct 14.

Department of Urology, Minimally Invasive Surgery Center, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

The differentiated phenotype of renal tubular epithelial cell exerts significant effect on crystal adherence. Peroxisome proliferator-activated receptor γ (PPARγ) has been shown to be critical for the regulation of cell transdifferentiation in many physiological and pathological conditions; however, little is known about its role in kidney stone formation. In the current study, we found that temporarily high oxalate concentration significantly decreased PPARγ expression, induced Madin Darby Canine Kidney cell dedifferentiation, and prompted subsequent calcium oxalate (CaOx) crystal adhesion in vitro. Read More

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March 2019
2 Reads

Enhanced Gastrointestinal Passive Paracellular Permeability Contributes to the Obesity-associated Hyperoxaluria.

Am J Physiol Gastrointest Liver Physiol 2018 Oct 11. Epub 2018 Oct 11.

Dept. of Medicine, The University of Chicago, United States.

Most kidney stones (KS) are composed of calcium oxalate and small increases in urine oxalate enhance the stone risk. Obesity is a risk factor for KS and urinary oxalate excretion increases with increased body size. We previously established the obese ob/ob ( ob) mice as a model (3. Read More

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October 2018
7 Reads
3.800 Impact Factor

Ascorbic acid-induced oxalate nephropathy: a case report and discussion of pathologic mechanisms.

CEN Case Rep 2018 Oct 1. Epub 2018 Oct 1.

Department of Medicine, Baylor College of Medicine, 7200 Cambridge Street, 10th Floor, Houston, TX, USA.

Oxalate nephropathy is associated with hereditary hyperoxaluria, Crohn disease, and previous gastric or intestinal surgery, especially in the setting of increased oxalate intake or ethylene glycol ingestion. We present a patient whose intake of vitamin C supplements (2 g/day), exacerbated by predisposing factors of prior small bowel obstruction and resection, and benign prostate hyperplasia (BPH), resulted in acute kidney injury due to oxalate nephropathy. We review past reports of vitamin C-induced oxalate nephropathy and discuss the underlying precipitating factors. Read More

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October 2018
4 Reads

Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I.

Pediatr Nephrol 2018 Oct 1. Epub 2018 Oct 1.

Centre de Référence des Maladies Rénales Rares, Service de Néphrologie et Rhumatologie Pédiatriques, Hospices Civils de Lyon, Lyon, France.

Background: Primary hyperoxaluria type 1 (PH1) is an orphan inborn error of oxalate metabolism leading to hyperoxaluria, progressive renal failure, oxalate deposition, and increased cardiovascular complications. As endothelial dysfunction and arterial stiffness are early markers of cardiovascular risk, we investigated early endothelial and vascular dysfunction in young PH1 patients either under conservative treatment (PH1-Cons) or after combined kidney liver transplantation (PH1-T) in comparison to healthy controls (Cont-H) and patients with a past of renal transplantation (Cont-T).

Methods: Skin microvascular function was non-invasively assessed by laser Doppler flowmetry before and after stimulation by current, thermal, or pharmacological (nitroprussiate (SNP) or acetylcholine (Ach)) stimuli in young PH1 patients and controls. Read More

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October 2018
3 Reads

Imaging features of primary hyperoxaluria.

Clin Imaging 2018 Nov - Dec;52:370-376. Epub 2018 Sep 15.

Imaging department, Schneider Children's Medical Center of Israel, 14 Kaplan street, Petach Tikva, Israel.

Primary hyperoxaluria (PH) is a group of autosomal recessive diseases that affect the metabolism of glyoxalate and oxalate. As a result of the enzymatic deficiency, there is overproduction and urinary excretion of oxalate with progressive renal damage and subsequent deposition of oxalate salts in various tissues. The definitive treatment in cases of end-stage kidney disease is a combined liver and kidney transplant. Read More

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September 2018
9 Reads

Recurrent oxalosis in a combined liver-kidney transplant patient with primary hyperoxaluria type 1 resulting in graft failure.

Nephrology (Carlton) 2018 10;23(10):962

Department of Renal Medicine, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.

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October 2018
1 Read

Development of a two-stage model system to investigate the mineralization mechanisms involved in idiopathic stone formation: stage 2 in vivo studies of stone growth on biomimetic Randall's plaque.

Urolithiasis 2018 Sep 14. Epub 2018 Sep 14.

Department of Urology, College of Medicine, University of Florida, 1600 SW Archer Rd, Gainesville, FL, 32610-0247, USA.

Idiopathic stone formers often form calcium oxalate (CaOx) stones that are attached to calcium phosphate (CaP) deposits in the renal tissue, known as Randall's plaques (RP). Plaques are suggested to originate in the renal tubular basement membrane and spread into the interstitial regions where collagen fibrils and vesicles become mineralized; if the epithelium is breached, the RP becomes overgrown with CaOx upon exposure to urine. We have developed a two-stage model system of CaP-CaOx composite stones, consisting of Stage (1) CaP mineralized plaque, followed by Stage (2) CaOx overgrowth into a stone. Read More

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September 2018
1 Read

Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses.

Hum Mol Genet 2018 Sep 12. Epub 2018 Sep 12.

Department of Physical Chemistry, University of Granada, Granada, 18071, Spain.

Most pathogenic missense mutations cause specific molecular phenotypes through protein destabilization. However, how protein destabilization is manifested as a given molecular phenotype is not well understood. We develop here a structural and energetic approach to describe mutational effects on specific traits such as function, regulation, stability, subcellular targeting or aggregation propensity. Read More

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September 2018
2 Reads

[Oxalate nephropathy due to malabsorption syndrome].

Ned Tijdschr Geneeskd 2018 08 23;162. Epub 2018 Aug 23.

Zaans Medisch Centrum, afd. Pathologie, Zaandam.

Enteric oxalate nephropathy is caused by hyperoxaluria. Factors which contribute to excessive oxalate absorption are an abundance of free fatty acids in the intestine due to malabsorption, changes in the microbiome, and bowel inflammation. We present two cases that illustrate different pathophysiological aspects of this disease. Read More

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August 2018
1 Read

Nephrogenic systemic fibrosis: in a child with primary hyperoxaluria.

Clin Exp Dermatol 2019 01 9;44(1):70-72. Epub 2018 Sep 9.

Department of Pathology, Health Science University Şişli Hamidiye Etfal Training and Research Hospital, Etfal sok. Şişli, Istanbul, 34100, Turkey.

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January 2019

Combined Liver-Kidney Transplantation in Children: Single-Center Experiences and Long-Term Results.

Transplant Proc 2018 Sep 3;50(7):2140-2144. Epub 2018 May 3.

Department of Nephrology, Kidney Transplantation, and Arterial Hypertension, Children's Memorial Health Institute, Warsaw, Poland.

Combined liver-kidney transplantation (CLKT) is a rare procedure in pediatric patients in which liver and kidney from 1 donor are transplanted to a recipient during a single operation. The aim of our study was to analyze indications and results of CLKT in children.

Materials And Methods: Between 1990 and 2017 we performed 722 liver transplantations in children; we performed 920 kidney transplantations in children since 1984. Read More

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September 2018
7 Reads

Designer probiotic Lactobacillus plantarum expressing oxalate decarboxylase developed using group II intron degrades intestinal oxalate in hyperoxaluric rats.

Microbiol Res 2018 Oct 22;215:65-75. Epub 2018 Jun 22.

Department of Biochemistry, Centre for Excellence in Genomics Science, School of Biological Sciences, Madurai Kamaraj University, Madurai 625 021, India. Electronic address:

Increased intestinal absorption of oxalate causes hyperoxaluria, a major risk factor for kidney stone disease. Intestinal colonization of recombinant probiotic bacteria expressing oxalate-degrading gene (OxdC) is an effective therapeutic option for recurrent calcium oxalate (CaOx) stone disease. Therefore, we aimed to develop food-grade probiotic L. Read More

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October 2018
12 Reads
2.561 Impact Factor

Targeting kidney inflammation as a new therapy for primary hyperoxaluria?

Nephrol Dial Transplant 2018 Aug 29. Epub 2018 Aug 29.

Institute of Experimental Immunology, University Hospital of the Rheinische Friedrich-Wilhelms-University, Bonn, Germany.

The primary hyperoxalurias (PHs) are inborn errors of glyoxylate metabolism characterized by endogenous oxalate overproduction in the liver, and thus elevated urinary oxalate excretion. The urinary calcium-oxalate (CaOx) supersaturation and the continuous renal accumulation of insoluble CaOx crystals yield a progressive decline in renal function that often ends with renal failure. In PH Type 1 (AGXT mutated), the most frequent and severe condition, patients typically progress to end-stage renal disease (ESRD); in PH Type 2 (GRHPR mutated), 20% of patients develop ESRD, while only one patient with PH Type 3 (HOGA1 mutated) has been reported with ESRD so far. Read More

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August 2018
2 Reads

Urinary tract stones in cystic fibrosis.

Authors:
J Graham Young

Paediatr Respir Rev 2018 Jun 18;27:21-23. Epub 2018 Jun 18.

Wythenshawe Hospital, SouthmWoor Road, Manchester M23 9LT, England, United Kingdom. Electronic address:

Urinary tract stones are a common problem in a general population but increasingly so in cystic fibrosis (CF) patients as survival improves. Mechanisms of stone formation are discussed, particularly those unique to CF patients. Modalities of treatment and the decision making process in this choice is outlined as well as possible future preventative strategies. Read More

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June 2018
8 Reads

[Genetic and biochemical features of the monogenic hereditary urolithiasis].

Biomed Khim 2018 Aug;64(4):315-325

Institute of Molecular Medicine of the Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia; Research Centre for Medical Genetics, Moscow, Russia.

Urolithiasis is a common urological problem. In most cases, this multifactorial pathology develops due to the combination of inherited low-penetrance gene variants and environment factors such as urinary tract infections and unbalanced diet. However, some cases are monogenic. Read More

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August 2018
11 Reads

[A special form of pancytopenia].

Pan Afr Med J 2018 9;29:209. Epub 2018 Apr 9.

Service d'Anatomie Pathologique, Hôpital Militaire, d'Instruction Mohamed V, Rabat, Maroc.

Primary hyperoxaluria is a rare disease whose incidence is estimated at less than 1 cases/million inhabitants/year. This is a congenital abnormality of hepatic metabolism leading to an endogenous overproduction of oxalate with excess urinary excretion. We report the case of a 43-year-old patient, was followed to end-stage renal disease hemodialysis, consulting for anemic syndrome with mucocutaneous pallor. Read More

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August 2018
2 Reads

Modulatory effect of 4-phenyl butyric acid on hyperoxaluria-induced renal injury and inflammation.

Mol Cell Biochem 2018 Jul 31. Epub 2018 Jul 31.

Department of Biochemistry, Panjab University, Chandigarh, Chandigarh, 160014, India.

Hyperoxaluria-associated deposition of calcium oxalate crystals results from oxalate-induced renal injury and inflammation. The present study was designed to evaluate the effect of 4-Phenyl butyric acid (4-PBA), a chemical chaperone, in ethylene glycol-induced hyperoxaluria and compare its effect with antioxidant, N-acetyl cysteine (NAC). Male Sprague-Dawley rats were given ethylene glycol in drinking water for 28 days to induce hyperoxaluria. Read More

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July 2018
2 Reads

Metabolic profile and impact of diet in patients with primary hyperoxaluria.

Int Urol Nephrol 2018 Sep 23;50(9):1583-1589. Epub 2018 Jul 23.

Department of Urology, University Stone Centre, University of Bonn, Sigmund-Freud-Straße 25, 53105, Bonn, Germany.

Purpose: The primary goal of this pilot study was to evaluate metabolic characteristics and to examine the impact of diet in patients with primary hyperoxaluria (PH) under controlled, standardized conditions.

Methods: Four patients with genetically confirmed PH collected 24 h urines on their habitual, self-selected diets and on day 1, 6, 7, 8, and 11 under controlled, standardized conditions. The [C]oxalate absorption, calcium, and ammonium chloride loading tests were performed. Read More

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September 2018
4 Reads

[Recurrent Kidney Stones in a patient with Malabsorption Syndrome].

G Ital Nefrol 2018 Jul;35(4)

UOC Nefrologia, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma.

Enteric hyperoxaluria is one of the most frequent complications of bariatric surgery. In this setting the prevalence of kidney stones is increased. Currently the treatment of enteric hyperoxaluria is based not only on the reduction of urinary oxalate but even controlling other lithogenic risk factors, like urinary volume and urinary citrate levels. Read More

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Salicylic Acid Derivatives Inhibit Oxalate Production in Mouse Hepatocytes with Primary Hyperoxaluria Type 1.

J Med Chem 2018 Aug 6;61(16):7144-7167. Epub 2018 Aug 6.

Departamento de Química Farmacéutica y Orgánica , Universidad de Granada , Campus de Cartuja s/n , 18071 Granada , Spain.

Primary hyperoxaluria type 1 (PH1) is a rare life-threatening genetic disease related to glyoxylate metabolism and characterized by accumulation of calcium oxalate crystals. Current therapies involve hepatic and/or renal transplantation, procedures that have significant morbidity and mortality and require long-term immunosuppression. Thus, a pharmacological treatment is urgently needed. Read More

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August 2018
5 Reads

Adenosinergic Signaling Inhibits Oxalate Transport by Human Intestinal Caco2-BBE Cells Through the A Adenosine Receptor.

Am J Physiol Cell Physiol 2018 Jul 18. Epub 2018 Jul 18.

Dept. of Medicine, The University of Chicago, United States.

Most kidney stones (KS) are composed of calcium oxalate, and small increases in urine oxalate affect the stone risk. Intestinal oxalate secretion mediated by anion exchanger SLC26A6 (PAT1) plays a crucial role in limiting net absorption of ingested oxalate; thereby preventing hyperoxaluria and related KS, reflecting the importance of understanding regulation of intestinal oxalate transport. We previously showed that ATP and UTP inhibit oxalate transport by human intestinal Caco2-BBE cells (C2). Read More

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July 2018
1 Read
3.780 Impact Factor

High expression of SLC26A6 in the kidney may contribute to renal calcification via an SLC26A6-dependent mechanism.

PeerJ 2018 3;6:e5192. Epub 2018 Jul 3.

Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Background: Solute-linked carrier 26 gene family 6 (SLC26A6), which is mainly expressed in intestines and kidneys, is a multifunctional anion transporter crucial in the transport of oxalate anions. This study aimed to investigate the role of kidney SLC26A6 in urolithiasis.

Methods: Patients were divided into two groups: stone formers and nonstone formers. Read More

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July 2018
7 Reads

Protective effect of pentoxifylline on oxidative renal cell injury associated with renal crystal formation in a hyperoxaluric rat model.

Urolithiasis 2018 Jul 6. Epub 2018 Jul 6.

Department of Pediatric Surgery, Medical School, Abant Izzet Baysal University, Bolu, Turkey.

The aim of the study is to investigate the effects of pentoxifylline (PTX) on the renal tubular cell injury and stone formation in a hyperoxaluric rat model induced by ethylene glycol and its possible underlying mechanisms. The study was performed with 30 male Wistar rats and randomized into three groups of teen. The sham-control (group 1) received only drinking water orally. Read More

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July 2018
14 Reads

Efficacy of Hydroxy-L-proline (HYP) analogs in the treatment of primary hyperoxaluria in Drosophila Melanogaster.

BMC Nephrol 2018 Jul 6;19(1):167. Epub 2018 Jul 6.

Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095# Jie Fang Avenue, Wuhan, 430030, China.

Background: Substrate reduction therapy with analogs reduces the accumulation of substrates by inhibiting the metabolic pathways involved in their biosynthesis, providing new treatment options for patients with primary hyperoxalurias (PHs) that often progress to end-stage renal disease (ESRD). This research aims to evaluate the inhibition efficacy of Hydroxy-L-proline (HYP) analogs against calcium oxalate (CaOx) crystal formation in the Drosophila Melanogaster (D. Melanogaster) by comparing them with Pyridoxine (Vitamin B6). Read More

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July 2018
6 Reads
1.520 Impact Factor

Hidden in Plain Sight: An Unusual Cause of Rapidly Progressive Renal Failure.

Indian J Nephrol 2018 May-Jun;28(3):240-243

Department of General Medicine, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, Maharashtra, India.

Hyperoxaluria and resultant oxalate nephropathy are infrequently reported causes of irreversible renal failure. A rapid decline in renal function in an otherwise insidiously progressive oxalate nephropathy may be triggered by various superimposed insults like the use of nephrotoxic drugs. We present the case of a patient with rapidly progressive renal failure due to oxalate nephropathy that lead to a retrospective diagnosis of chronic pancreatitis. Read More

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July 2018
3 Reads

Paraplegia as a presentation of primary hyperoxaluria.

CEN Case Rep 2018 11 29;7(2):313-315. Epub 2018 Jun 29.

Nephrology Department, CH Haguenau, 67500, Haguenau, France.

30% of the patients suffering from hyperoxaluria type 1 are diagnosed only when they already had reached end-stage renal disease. We report the case of a 57-year-old woman with history of chronic kidney failure presenting with paraplegia due to spinal cord compression by thoracic mass-like lesions. Bone biopsy specimen obtained by decompressive laminectomy revealed calcium oxalate deposits. Read More

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November 2018
8 Reads

Amelioration of hyperoxaluria-induced kidney dysfunction by chemical chaperone 4-phenylbutyric acid.

Urolithiasis 2018 Jun 13. Epub 2018 Jun 13.

Department of Biophysics, Panjab University, Chandigarh, 160014, India.

Hyperoxaluria is characterized by an increased excretion of urinary oxalate which is caused by inherited disorders or high oxalate intake leading to renal stone ailment. Until date, reactive oxygen species and inflammation has been convicted for the progression of kidney stones for which antioxidant therapy has been employed. However, recent studies have linked the association of endoplasmic reticulum stress and oxidative imbalance in the progression of renal diseases. Read More

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June 2018
2 Reads

Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria.

Mol Ther 2018 Aug 15;26(8):1983-1995. Epub 2018 Jun 15.

Dicerna Pharmaceuticals, Inc., Cambridge, MA 02140, USA. Electronic address:

Primary hyperoxalurias (PHs) are autosomal recessive disorders caused by the overproduction of oxalate leading to calcium oxalate precipitation in the kidney and eventually to end-stage renal disease. One promising strategy to treat PHs is to reduce the hepatic production of oxalate through substrate reduction therapy by inhibiting liver-specific glycolate oxidase (GO), which controls the conversion of glycolate to glyoxylate, the proposed main precursor to oxalate. Alternatively, diminishing the amount of hepatic lactate dehydrogenase (LDH) expression, the proposed key enzyme responsible for converting glyoxylate to oxalate, should directly prevent the accumulation of oxalate in PH patients. Read More

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August 2018
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Primary hyperoxaluria: Orthodontic management in a pediatric patient: A case report.

Spec Care Dentist 2018 Jul 8;38(4):259-265. Epub 2018 Jun 8.

Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.

Aims: The aim of this study is to report the case of the orthodontic treatment in a patient affected by primary hyperoxaluria type 1 and subjected to a combinate liver-kidney transplant.

Methods And Results: The 9-year patient was admitted to our department for the presence of facial dysmorphism. The patient was affected by primary hyperoxaluria type 1 and has undergone a combined liver-kidney transplantation. Read More

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July 2018
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Obesity and kidney stone disease: a systematic review.

Minerva Urol Nefrol 2018 Aug 31;70(4):393-400. Epub 2018 May 31.

Unit of Urology, Department of Medico-Surgical Sciences and Biotechnologies, Faculty of Pharmacy and Medicine, Sapienza University of Rome, Latina, Italy -

Introduction: Currently, abdominal obesity has reached an epidemic stage and obesity represents an important challenge for worldwide health authorities. Epidemiologic studies have demonstrated that the stone risk incidence increases with Body Mass Index, through multiple pathways. Metabolic syndrome and diabetes are associated with an increased renal stones disease incidence. Read More

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August 2018
3 Reads

Losartan Ameliorates Calcium Oxalate-Induced Elevation of Stone-Related Proteins in Renal Tubular Cells by Inhibiting NADPH Oxidase and Oxidative Stress.

Oxid Med Cell Longev 2018 24;2018:1271864. Epub 2018 Apr 24.

Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Calcium oxalate (CaOx) is the most common type of urinary stone. Increase of ROS and NADPH oxidase gives rise to inflammation and injury of renal tubular cells, which promotes CaOx stone formation. Recent studies have revealed that the renin-angiotensin system might play a role in kidney crystallization and ROS production. Read More

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October 2018
4 Reads

Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.

J Mol Med (Berl) 2018 Jul 18;96(7):621-630. Epub 2018 May 18.

Division of Pediatric Nephrology, Shaare Zedek Medical Center, Shmuel Bait Street, 91031, Jerusalem, Israel.

Primary hyperoxaluria type 1 is a severe kidney stone disease caused by abnormalities of the peroxisomal alanine-glyoxylate aminotransferase (AGT). The most frequent mutation G170R results in aberrant mitochondrial localization of the active enzyme. To evaluate the population of peroxisome-localized AGT, we developed a quantitative Glow-AGT assay based on the self-assembly split-GFP approach and used it to identify drugs that can correct mislocalization of the mutant protein. Read More

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July 2018
19 Reads
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