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Nat Rev Nephrol 2021 Jun 10. Epub 2021 Jun 10.

Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University of Cologne, University Hospital of Cologne, Cologne, Germany.

Mol Nutr Food Res 2021 Jun 10:e2100226. Epub 2021 Jun 10.

Department of Preventive Environment and Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, 770-8503, Japan.

Scope: Hyperoxaluria is a major cause of kidney stone disease. Around half of the oxalate in mammals is supplied from the diet and the other half is endogenously synthesized from glyoxylate. Reduction of hepatic glycolate oxidase (GO) activity is one approach to reduce endogenous production of oxalate. Read More

Kidney Int 2021 Jun 5. Epub 2021 Jun 5.

Inserm Unit 1018, Team 5, CESP, Hôpital Paul Brousse, Paris-Sud University (UPS) and Versailles Saint-Quentin-en-Yvelines University (Paris-Ile-de-France-Ouest University, UVSQ), Villejuif, France.

J Clin Lab Anal 2021 Jun 7:e23870. Epub 2021 Jun 7.

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

Background: Urinary oxalate can provide important clues for the screening and monitoring of children with primary hyperoxaluria (PH), which is a potentially life-threatening condition. However, little effort has been devoted to improve the oxalate assay in recent years. We have proposed a reliable and cost-effective high-performance liquid chromatography (HPLC) method for urinary oxalate determination. Read More

S Afr J Surg 2020 Dec;58(4):210-212

Division of Urology, Groote Schuur Hospital, University of Cape Town, South Africa.

Background: Idiopathic hyperoxaluria is a risk factor for developing calcium oxalate nephrolithiasis. Dietary oxalate's effect on urinary oxalate is not well studied. The aim of this study is to assess the effect of advice focused on reducing dietary oxalate in a cohort of idiopathic hyperoxaluric patients. Read More

Kidney360 2020 Dec 31;1(12):1456-1461. Epub 2020 Dec 31.

Section of Nephrology, University of Chicago, Chicago, Illinois.

Kidney stones are painful, common, and increasing in incidence. Obesity and bariatric surgery rates are also on the rise in the United States. Although bariatric surgery is associated with improvements in metabolic outcomes, malabsorptive bariatric surgery procedures are also associated with increased risk of kidney stones. Read More

BMC Med Genomics 2021 Jun 3;14(1):146. Epub 2021 Jun 3.

Chlidien's Hospital of Damascus, Damascus, Syria.

Background: Characterization of the molecular basis of primary hyperoxaluria type 1 (PH-1) in Syria has been accomplished through the analysis of 90 unrelated chromosomes from 45 Syrians patients with PH-1 from different regions.

Methods: Alanine glyoxylate aminotransferase (AGXT) gene mutations have been analyzed by using molecular detection methods based on the direct DNA sequencing for all exons of the AGXT gene.

Results: Seventeen pathogenic mutations were detected in our patients. Read More

Antioxidants (Basel) 2021 May 4;10(5). Epub 2021 May 4.

Department of Urology, Puerta de Hierro-Majadahonda University Hospital, Autonoma University, 08193 Bellaterra, Spain.

An increased risk of cardiovascular morbidity has been reported in lithiasic patients. In this context, endothelial dysfunction (ED), an earlier status of atherogenesis, has been identified in hyperoxaluria rat models of urolithiasis.

Objective: The purpose of this study was to determine the endothelial vascular function in patients with urolithiasis in relation to systemic inflammatory, oxidative stress, and vascular function serum markers. Read More

Natl Med J India 2020 Jul-Aug;33(4):205-206

Department of Nephrology, Government Rajaji Hospital, Madurai, Tamil Nadu, India.

We report primary hyperoxaluria (PH) type 1 in a young female who presented with a history of right nephrectomy for recurrent renal calculi and pyelonephritis. Genetic study showed it to be a variant of AGXT gene mutation classical of PH type 1. Read More

Life Sci 2021 May 25;279:119641. Epub 2021 May 25.

Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.

Aims: Apigenin (4',5,7-trihydroxyflavone) is one of the subclasses of flavonoids and has various pharmacological effects. The present work was carried out to study the effect of apigenin on ethylene glycol-induced kidney damage in male Wistar rats.

Main Methods: We evaluated the effects of apigenin orally administrated in normal and urolithiatic rats. Read More

Br J Clin Pharmacol 2021 May 22. Epub 2021 May 22.

Dicerna Pharmaceuticals, Cambridge, MA, USA.

RNA interference (RNAi) is a natural biological pathway that inhibits gene expression by targeted degradation or translational inhibition of cytoplasmic mRNA by the RNA induced silencing complex. RNAi has long been exploited in laboratory research to study the biological consequences of the reduced expression of a gene of interest. More recently RNAi has been demonstrated as a therapeutic avenue for rare metabolic diseases. Read More

Clin J Am Soc Nephrol 2021 May 13. Epub 2021 May 13.

Center for Rare Renal Diseases and Institut National de la Santé et de la Recherche Médicale Pediatric Clinical Investigation Center, Hospices Civils de Lyon, Lyon, France.

Background And Objectives: In the rare disease primary hyperoxaluria type 1, overproduction of oxalate by the liver causes kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis. Lumasiran, an RNA interference therapeutic, suppresses glycolate oxidase, reducing hepatic oxalate production. The objective of this first-in-human, randomized, placebo-controlled trial was to evaluate the safety, pharmacokinetic, and pharmacodynamic profiles of lumasiran in healthy participants and patients with primary hyperoxaluria type 1. Read More

Front Immunol 2021 21;12:673423. Epub 2021 Apr 21.

Division of Nephrology, Department of Medicine IV, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.

Calcium oxalate (CaOx) crystal formation, aggregation and growth is a common cause of kidney stone disease and nephrocalcinosis-related chronic kidney disease (CKD). Genetically modified mouse strains are frequently used as an experimental tool in this context but observed phenotypes may also relate to the genetic background or intestinal microbiota. We hypothesized that the genetic background or intestinal microbiota of mice determine CaOx crystal deposition and thus the outcome of nephrocalcinosis. Read More

Front Pediatr 2021 20;9:615183. Epub 2021 Apr 20.

Department of Pediatric Nephrology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium.

Oxalate overproduction in Primary Hyperoxaluria type I (PH1) leads to progressive renal failure and systemic oxalate deposition. In severe infantile forms of PH1 (IPH1), end-stage renal disease (ESRD) occurs in the first years of life. Usually, the management of these infantile forms is challenging and consists in an intensive dialysis regimen followed by a liver-kidney transplantation (combined or sequential). Read More

J Med Chem 2021 05 6;64(10):6730-6744. Epub 2021 May 6.

X-Chem Inc., 100 Beaver Street, Waltham, Massachusetts 02453, United States.

Inhibition of hydroxy acid oxidase 1 (HAO1) is a strategy to mitigate the accumulation of toxic oxalate that results from reduced activity of alanine-glyoxylate aminotransferase (AGXT) in primary hyperoxaluria 1 (PH1) patients. DNA-Encoded Chemical Library (DECL) screening provided two novel chemical series of potent HAO1 inhibitors, represented by compounds -. Compound was further optimized via various structure-activity relationship (SAR) exploration methods to , a compound with improved potency and absorption, distribution, metabolism, and excretion (ADME)/pharmacokinetic (PK) properties. Read More

Mol Biol Rep 2021 Apr 4;48(4):3841-3844. Epub 2021 May 4.

Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.

Primary hyperoxaluria type-III is a disorder of glyoxylate metabolism, caused by pathogenic variants in the HOGA1 gene. To date more than 50 disease-associated pathogenic sequence variants are identified in the gene. A few of the variants are population specific and are considered to have a founder effect in respective populations. Read More

Ther Apher Dial 2021 May 4. Epub 2021 May 4.

Department of Pediatrics & Pediatric Nephrology, Faculty of Medicine, Cairo University, Cairo, Egypt.

Primary hyperoxaluria type 1 (PH1) is a rare disease that is challenged by the overproduced oxalate and commonly presented with radiopaque renal stones or obstructive uropathy. This study aimed to report clinical presentations, renal replacement therapy (RRT), and outcome of PH1 in end stage kidney disease (ESKD) children. This is an observational cohort study. Read More

JPEN J Parenter Enteral Nutr 2021 May 2. Epub 2021 May 2.

Department of General Intensive Care and Institute for Nutrition Research, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Tel Aviv University, Tel Aviv, Israel.

Background: In short-bowel syndrome (SBS) treated with parenteral nutrition (PN), multiple complications can occur. The etiology of kidney stones may be linked to the underlying disease thrombosis, surgical complications, complications of therapy for cancer, Crohn's disease, metabolic abnormalities resulting from morphological and functional changes in the gastrointestinal tract, and to treatment used. We analyzed all these parameters in a large cohort of patients receiving home PN (HPN), to define the incidence of stones and groups of patients particularly at risk of stone formation. Read More

J Pers Med 2021 Apr 6;11(4). Epub 2021 Apr 6.

Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy.

Peroxisomal matrix proteins are transported into peroxisomes in a fully-folded state, but whether multimeric proteins are imported as monomers or oligomers is still disputed. Here, we used alanine:glyoxylate aminotransferase (AGT), a homodimeric pyridoxal 5'-phosphate (PLP)-dependent enzyme, whose deficit causes primary hyperoxaluria type I (PH1), as a model protein and compared the intracellular behavior and peroxisomal import of native dimeric and artificial monomeric forms. Monomerization strongly reduces AGT intracellular stability and increases its aggregation/degradation propensity. Read More

Crit Care Explor 2021 Apr 26;3(4):e0389. Epub 2021 Apr 26.

Department of Medicine, Division of Critical Care Medicine, Maisonneuve-Rosemont Hospital, Affiliated With University of Montreal, Montreal, QC, Canada.

Vitamin C is a novel treatment currently under investigation in the management of sepsis. Adverse renal effects of vitamin C through hyperoxaluria have been described in the past.

Data Sources: We report the case of a 63-year-old man admitted in a community-based hospital with a diagnosis of sepsis of pulmonary origin. Read More

Kidney Int Rep 2021 Apr 3;6(4):1088-1098. Epub 2021 Feb 3.

Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

Introduction: Primary hyperoxaluria (PH) is a family of 3 rare genetic disorders of hepatic glyoxylate metabolism that lead to overproduction and increased renal excretion of oxalate resulting in progressive renal damage. inhibition of glyoxylate-to-oxalate conversion by RNA interference (RNAi) has emerged as a potential therapeutic option for all types of PH. is mainly expressed in the liver and muscles. Read More

Nephrol Ther 2021 Apr;17S:S95-S99

Sorbonne Université, 4, rue de la Chine, 75020 Paris, France; Inserm, UMR S 1155 Maladies fréquentes et rares: des mécanismes moléculaires à la médecine personnalisée, 4, rue de la Chine, 75020 Paris, France; Service des explorations fonctionnelles multidisciplinaires, hôpital Tenon, 4, rue de la Chine, 75020 Paris France.

Oxalate is a metabolite promoting the formation of calcium oxalate crystals in urine. Hyperoxaluria is a feature of genetic diseases, known as primary hyperoxaluria, leading to chronic kidney disease. Ethylene glycol poisoning induces the crystallization of calcium oxalate crystals in renal tubules, promoting acute renal failure. Read More

Nephrol Ther 2021 Apr;17S:S23-S26

Centre de référence des maladies rénales rares, hôpital Femme-Mère-Enfant, 59 boulevard Pinel, 69677 Bron cedex, France; Service de néphrologie rhumatologie dermatologie pédiatriques, hôpital Femme-Mère-Enfant, 59 boulevard Pinel, 69677 Bron cedex, France; Université Claude-Bernard Lyon-1, 8, avenue Rockefeller, 69008 Lyon, France.

Primary hyperoxalurias are rare disease with autosomal recessive inheritance; they often lead to kidney failure and can lead to life-threatening conditions, especially in early onset forms. There are three types, responding to distinct enzyme deficits. Type 1 represents 85% of cases and results from an enzyme deficiency (alanine-glyoxylate aminotransferase) in the peroxisomes of the liver, causing hyperoxaluria leading to urolithiasis with or without nephrocalcinosis. Read More

Front Med (Lausanne) 2021 9;8:592357. Epub 2021 Apr 9.

Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, MN, United States.

Primary hyperoxaluria type 1 (PH1) is a rare monogenic disorder characterized by excessive hepatic production of oxalate leading to recurrent nephrolithiasis, nephrocalcinosis, and progressive kidney damage, often requiring renal replacement therapy (RRT). Though systemic oxalate deposition is well-known, the natural history of PH1 during RRT has not been systematically described. In this study, we describe the clinical, laboratory, and echocardiographic features of a cohort of PH1 patients on RRT. Read More

Ann Med Surg (Lond) 2021 Apr 30;64:102251. Epub 2021 Mar 30.

Section of Chemical Pathology, Department of Pathology & Laboratory Medicine, Aga Khan University, Pakistan.

Background: The gold standard screening method of hyperoxaluria in children is using 24-hour urine collection. Urine collection may be cumbersome and challenging for children. Reference intervals (RI) of oxalate for the Pakistani population are not readily available. Read More

Kidney Int 2021 Apr 16. Epub 2021 Apr 16.

Outpatient Clinics, German Hyperoxaluria Center, Cologne/Bonn, Germany. Electronic address:

Outcome data in primary hyperoxaluria type 3 (PH3), described as a less severe form of the PH's with a low risk of chronic kidney disease, are scarce. To investigate this, we retrospectively analyzed the largest PH3 cohort reported so far. Of 95 patients, 74 were followed over a median of six years. Read More

G Ital Nefrol 2021 Apr 14;38(2). Epub 2021 Apr 14.

Ospedale Infantile Regina Margherita, Torino, Italia.

Primary hyperoxaluria type 1 is a rare genetic disease; the onset of symptoms ranges from childhood to the sixth decade of life and the disease may go unrecognized for several years. There is an urgent need for drugs able to inhibit the liver production of oxalate and to prevent the disease progression; lumasiran, an innovative molecule based on RNAi interference, is one of the most promising drugs. A group of leading Italian experts on this disease met to respond to some unmet medical needs (early diagnosis, availability of genetic tests and dosage of plasma oxalate, timing of liver transplantation, need for etiologic treatment), based on the analysis of the main scientific evidence and their personal experience. Read More

J Cardiol Cases 2021 Apr 19;23(4):145-148. Epub 2020 Nov 19.

Cardiology Department, ASST Nord Milano, Ospedale E. Bassini, Cinisello Balsamo, Milano, Italy.

We report an unusual case of heart failure due to massive myocardial calcification related to a rare combination of idiopathic mitral annular calcification, myocardial calcification of the left ventricular septum and the inferior wall without other predisposing factors, such as previous myocardial infarction, ventricular aneurysms, myocarditis, rheumatic heart disease, tuberculosis, chronic renal failure, or systemic metabolic disease (sarcoidosis or primary hyperoxaluria). The related restrictive pattern of diastolic filling of the left ventricle could explain this unusual case of heart failure with preserved ejection fraction. < The prevalence of heart failure with preserved ejection fraction has increased with an increasing prevalence of risk factors. Read More

Urolithiasis 2021 Apr 9. Epub 2021 Apr 9.

Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.

Evaluation of the effects of methanolic extract of Cucumis melo in ethylene glycol-induced nephrolithiasis on Wistar rats. 0.75% solution of ethylene glycol (EG) in payable water was given to produce nephrolithiasis on Wistar rats. Read More

Pediatr Nephrol 2021 Apr 8. Epub 2021 Apr 8.

Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Background: Primary hyperoxaluria type 1 (PH1) is characterized by hepatic overproduction of oxalate and often results in kidney failure. Liver-kidney transplantation is recommended, either combined (CLKT) or sequentially performed (SLKT). The merits of SLKT and the place of an isolated kidney transplant (KT) in selected patients are unsettled. Read More