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Int Urol Nephrol 2019 Feb 19. Epub 2019 Feb 19.

Feinberg School of Medicine, Northwestern University, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Avenue, Chicago, IL, 60611, USA.

Purpose: To evaluate the potential of ALLN-177, an orally administered, oxalate-specific enzyme therapy to reduce urine oxalate (UOx) excretion in patients with secondary hyperoxaluria.

Methods: Sixteen male and female subjects with both hyperoxaluria and a kidney stone history were enrolled in an open-label study. Subjects continued their usual diets and therapies. Read More

Urologiia 2018 Oct(4):19-23

Clinic of Urology and Nephrology, Institute of Postgraduate Medical Education, Tashkent, Uzbekistan.

Drugs for preventing stone formation can be selected based on the average regional indicators, which have features depending on the region of the world.

Aim: To investigate the features of urinary factors for lithogenesis (UFL) of calcium urolithiasis in Tashkent and evaluate the variants of their pharmacological correction.

Materials And Methods: The study analyzed data from 779 patients with calcium urolithiasis. Read More

Anal Bioanal Chem 2019 Feb 11. Epub 2019 Feb 11.

Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL, 32610, USA.

Diseases of oxalate, such as nephrolithiasis and primary hyperoxaluria, affect a significant portion of the US population and have limited treatment options. Oxalobacter formigenes, an obligate oxalotrophic bacterium in the mammalian intestine, has generated great interest as a potential probiotic or therapeutic treatment for oxalate-related conditions due to its ability to degrade both exogenous (dietary) and endogenous (metabolic) oxalate, lowering the risk of hyperoxaluria/hyperoxalemia. Although all oxalotrophs degrade dietary oxalate, Oxalobacter formigenes is the only species shown to initiate intestinal oxalate secretion to draw upon endogenous, circulating oxalate for consumption. Read More

J Nephrol 2019 Jan 24. Epub 2019 Jan 24.

Department of Internal Medicine, and Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, Dallas, TX, USA.

A symposium on kidney stones and mineral metabolism held on December 2017 in Brussels, Belgium was the first international multidisciplinary conference of the International Collaborative Network on Kidney Stones and Mineral Metabolism. This meeting addressed epidemiology, underlying pathophysiological mechanisms, genetics, pathological, as well as clinical and research topics. The participants included clinicians and recognized experts in the field from Europe and the United States interacted closely during the symposium which promoted a chance to explore new frontiers in the field of kidney stone disease. Read More

Int Braz J Urol 2019 Jan 4;45. Epub 2019 Jan 4.

Department of Urology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

Purpose: To better characterize metabolic stone risk in patients with neurologically derived musculoskeletal deficiencies (NDMD) by determining how patient characteristics relate to renal calculus composition and 24-hour urine parameters.

Materials And Methods: We performed a retrospective cohort study of adult patients with neurologically derived musculoskeletal deficiencies presenting to our multidisciplinary Kidney Stone Clinic. Patients with a diagnosis of NDMD, at least one 24-hour urine collection, and one chemical stone analysis were included in the analysis. Read More

Nucleic Acid Ther 2019 Jan 24. Epub 2019 Jan 24.

1 Research, Alexion Pharmaceuticals, Inc., New Haven, Connecticut.

Primary Hyperoxaluria Type 1 (PH1) is an autosomal recessive disorder of glyoxylate metabolism. Loss of alanine glyoxylate aminotransferase (AGT) function to convert intermediate metabolite glyoxylate to glycine causes the accumulation and reduction of glyoxylate to glycolate, which eventually is oxidized to oxalate. Excess oxalate in PH1 patients leads to the formation and deposition of calcium oxalate crystals in the kidney and urinary tract. Read More

Indian J Nephrol 2018 Nov-Dec;28(6):472-476

Department of Nephrology, Hedi Chaker Hospital, Sfax, Tunisia.

Crystals are particles of endogenous inorganic or organic composition that can trigger kidney injury when deposited or formed inside the kidney. The most common forms of crystalline nephropathies (CNs) are nephrocalcinosis and oxalate nephropathy. The causes of early allograft dysfunction are changing constantly, and recently calcium oxalate (CaOx) crystal deposition has been added to this list. Read More

Adv Protein Chem Struct Biol 2019 28;114:119-152. Epub 2018 Nov 28.

Department of Physical Chemistry, University of Granada, Granada, Spain. Electronic address:

To carry out their biological function in cells, proteins must be folded and targeted to the appropriate subcellular location. These processes are controlled by a vast collection of interacting proteins collectively known as the protein homeostasis network, in which molecular chaperones play a prominent role. Protein homeostasis can be impaired by inherited mutations leading to genetic diseases. Read More

J Urol 2019 02;201(2):223-224

Pediatr Nephrol 2019 Jan 4. Epub 2019 Jan 4.

Department of Pediatrics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON, N6A 5W9, Canada.

Background: The incidence of nephrolithiasis in children and adolescents is increasing and appears to double every 10 years. The most important role of the pediatric nephrologist is to diagnose and modify various metabolic and non-metabolic risk factors, as well as prevent long-term complications especially in the case of recurrent nephrolithiasis.

Objective: The purpose of this review is to summarize the existing literature on the etiology and management of pediatric nephrolithiasis. Read More

Free Radic Biol Med 2018 Dec 29;134:9-22. Epub 2018 Dec 29.

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

Hyperoxaluria induces oxidative stress, and inflammation causes renal epithelial cell injury in nephrolithiasis, suggesting that reduced oxalate toxicity may be beneficial. This study aimed to investigate whether nuclear factor (erythroid-derived 2)-like 2 (Nrf2, also called Nfe2l2) induced by dimethyl fumarate (DMF) could protect renal epithelial cells against oxalate-mediated injury both in vivo and in vitro. Glyoxylic acid monohydrate was intraperitoneally injected into Sprague-Dawley rats with or without intragastric administration of DMF. Read More

Nat Commun 2018 12 21;9(1):5454. Epub 2018 Dec 21.

Regenerative Medicine Program, Center for Applied Medical Research (CIMA), University of Navarra, IdiSNA, Pamplona, 31008, Spain.

CRISPR/Cas9 technology offers novel approaches for the development of new therapies for many unmet clinical needs, including a significant number of inherited monogenic diseases. However, in vivo correction of disease-causing genes is still inefficient, especially for those diseases without selective advantage for corrected cells. We reasoned that substrate reduction therapies (SRT) targeting non-essential enzymes could provide an attractive alternative. Read More

Urolithiasis 2019 Feb 18;47(1):91-98. Epub 2018 Dec 18.

Chair of Nephrology, Department of Translational Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.

In the last decades, proteomics has been largely applied to the Nephrology field, with the double aim to (1) elucidate the biological processes underlying renal diseases; (2) identify disease-specific biomarkers, predictor factors of therapeutic efficacy and prognostic factors of disease progression. Kidney stone disease, and in particular, inherited nephrolithiasis (INL) are not an exception. Given the multifactorial origin of these disorders, the combination of genomics and proteomics studies may complement each other, with the final objective to give a global and comprehensive mechanistic view. Read More

Acta Biomed 2018 Dec 17;89(9-S):76-80. Epub 2018 Dec 17.

Pediatric Emergency Unit, University Hospital of Parma, Maternal and Infant Department, Parma, Italy.

Background And Aim Of The Work: Historical studies have demonstrated that the prevalence of symptomatic nephrolithiasis is higher in patients with inflammatory bowel disease (IBD), compared to general population. The aim of the review was to analyze literature data in order to identify the main risk conditions described in literature and the proposed treatment.

Methods: A research on the databases PubMed, Medline, Embase and Google Scholar was performed by using the keywords "renal calculi/lithiasis/stones" and "inflammatory bowel diseases". Read More

Tohoku J Exp Med 2018 12;246(4):233-241

Department of Laboratory Animal Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.

Primary hyperoxaluria type 1 (PH1), a rare autosomal recessive disorder, is characterized by renal stones, nephrocalcinosis, and chronic kidney disease. PH1 is caused by defects in alanine glyoxylate aminotransferase (AGT, 392 amino-acid residues), which is encoded by the alanine-glyoxylate and serine-pyruvate aminotransferase (AGXT) gene. This study aimed to determine the clinical, biochemical, and mutation spectrum of patients with PH1 from mainland China. Read More

Expert Opin Emerg Drugs 2018 Dec 12:1-9. Epub 2018 Dec 12.

a Division of Pediatric Nephrology , University Childrens Hospital, Universitatsklinikum Bonn , Bonn , Germany.

Introduction: Currently, three types of primary hyperoxaluria (PH I-III) are known, all based on different gene-mutations affecting the glyoxylate metabolism in the liver. Disease hallmark is an increased endogenous oxalate production and thus massively elevated urinary excretion of oxalate and other type-specific metabolites. Hyperoxaluria induces the formation of calcium-oxalate kidney stones and/or nephrocalcinosis. Read More

Curr Mol Med 2018 ;18(7):436-447

Department of Pediatric Urology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Background: Primary hyperoxaluria type 1 (PH1) is an inherited disease caused by mutations in alanine-glyoxylate aminotransferase (AGXT). It is characterized by abnormal metabolism of glyoxylic acid in the liver leading to endogenous oxalate overproduction and deposition of oxalate in multiple organs, mainly the kidney. Patients of PH1 often suffer from recurrent urinary tract stones, and finally renal failure. Read More

Urolithiasis 2019 Feb 10;47(1):79-89. 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

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

Clin Nucl Med 2019 Feb;44(2):123-124

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

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

Pediatr Transplant 2019 02 26;23(1):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

Urolithiasis 2019 Feb 23;47(1):115-123. 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

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 2019 Feb 14;47(1):67-78. 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

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

Urology 2019 Feb 7;124:310.e9-310.e14. 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

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

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

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, 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

Am J Physiol Gastrointest Liver Physiol 2019 Jan 1;316(1):G82-G94. Epub 2018 Nov 1.

Department of Pathology, Immunology, and Laboratory Medicine, College of Medicine, University of Florida , Gainesville, Florida.

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 that 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, , 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

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

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

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

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

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

Am J Physiol Gastrointest Liver Physiol 2019 Jan 11;316(1):G1-G14. Epub 2018 Oct 11.

Department of Medicine, The University of Chicago , Chicago, Illinois.

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

CEN Case Rep 2019 Feb 1;8(1):67-70. 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

Pediatr Nephrol 2019 Feb 1;34(2):319-327. 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

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

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

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

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

Hum Mol Genet 2019 Jan;28(1):1-15

Department of Physical Chemistry, University of Granada, Granada, 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

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

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.

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

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

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

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

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