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Int J Nephrol Renovasc Dis 2022 17;15:197-206. Epub 2022 Jun 17.

U.O.S. Terapia Conservativa della Malattia Renale Cronica, U.O.C. Nefrologia, Dipartimento di Scienze Mediche e Chirurgiche, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia.

Primary hyperoxaluria (PH) is a rare genetic disease caused by excessive hepatic production and elevated urinary excretion of oxalate that leads to recurrent nephrolithiasis, nephrocalcinosis and, eventually, kidney failure. As glomerular filtration rate declines, oxalate accumulates leading to systemic oxalosis, a debilitating condition with high morbidity and mortality. Although PH is usually diagnosed during infancy, it can present at any age with different phenotypes, ranging from mild symptoms to extremely debilitating manifestations. Read More

BioDrugs 2022 Jun 22. Epub 2022 Jun 22.

Department of Urology, University of Alabama at Birmingham, 1720 2nd Ave South, Birmingham, AL, 35294, USA.

Over the last few years, US Food and Drug Administration-approved drugs using RNA interference have come to the market. Many have treated liver-specific diseases utilizing N-acetyl galactosamine conjugation because of its effective delivery and limited off-target effects. The autosomal recessive disorder primary hyperoxaluria, specifically type 1, has benefited from these developments. Read More

Clin Kidney J 2022 May 17;15(Suppl 1):i29-i32. Epub 2022 May 17.

University of Chicago, Nephrology Section, South Maryland, Chicago, IL, USA.

In adults, primary hyperoxaluria (PH) does not always present as obviously as in children, leading to delayed or even missed diagnosis. When diagnosed in adulthood, PH usually progresses at a slower rate and the focus is on the prevention of recurrent kidney stones as much as it is on the preservation of renal function. The most tragic presentation is when the diagnosis is made after primary non-function of a renal graft for treating previously unknown renal disease. Read More

Probiotics Antimicrob Proteins 2022 Jun 14. Epub 2022 Jun 14.

School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India.

In the present study, we characterized the probiotic properties of two commercially available bacterial strains, Lactobacillus paragasseri UBLG-36 and Lacticaseibacillus paracasei UBLPC-87, and evaluated their ability to degrade oxalate in vitro and in a hyperoxaluria-induced nephrolithiasis rat model. UBLG-36 harboring two oxalate catabolizing genes, oxalyl coenzyme A decarboxylase (oxc) and formyl coenzyme A transferase (frc), was previously shown to degrade oxalate in vitro effectively. Here, we show that UBLPC-87, lacking both oxc and frc, could still degrade oxalate in vitro. Read More

Pediatr Nephrol 2022 Jun 13. Epub 2022 Jun 13.

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

Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences. Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool for patients with PH to define the disease type. Patients with PH type 1 (PH1) have a worse prognosis than those with other PH types, despite the same extent of oxalate excretion. Read More

CRISPR J 2022 06;5(3):422-434

Cell Technology Division, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIEMAT/CIBERER), Madrid, Spain.

Knockout mice for human disease-causing genes provide valuable models in which new therapeutic approaches can be tested. Electroporation of genome editing tools into zygotes, or within oviducts, allows for the generation of targeted mutations in a shorter time. We have generated mouse models deficient in genes involved in metabolic rare diseases (Primary Hyperoxaluria Type 1 Pyruvate Kinase Deficiency) or in a tumor suppressor gene (). Read More

Urolithiasis 2022 Jun 9. Epub 2022 Jun 9.

Department of Pathology, Sindh Institute of Urology and Transplantation (SIUT), Karachi, Pakistan.

Autosomal recessive disorders are prevalent in Pakistan, a developing South Asian country where consanguineous marriages are common. This study seeks to determine the prevalence of monogenic causes in children presenting with nephrocalcinosis and nephrolithiasis at a dialysis and transplant center in Karachi, Pakistan. A retrospective analysis was conducted in children aged 1-18 years presenting with nephrocalcinosis, between 2010 and 2019. Read More

Curr Opin Urol 2022 Jul 9;32(4):373-378. Epub 2022 Jun 9.

Sorbonne University GRC Urolithiasis no. 20 Tenon Hospital.

Purpose Of Review: To confirm the need for a metabolic evaluation in stone formers based on the latest information published in the last 24 months and in the current 2022 American and European urological guidelines.

Recent Findings: Recent studies suggest that urolithiasis prevalence has been increasing since 1990. Along with it, metabolic abnormalities that contribute to the development of kidney stones are also increasing, such as hyperuricosuria, hyperoxaluria, hypocitraturia, hypomagnesuria, hypocalciuria, hypophosphaturia, and hyperuricemia. Read More

Mol Genet Genomic Med 2022 Jun 3. Epub 2022 Jun 3.

Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Background: Primary hyperoxaluria (PH) is a rare heterogeneous, autosomal recessive disorder of glyoxylate metabolism. It is characterized by excessive hepatic production of oxalate resulting in a wide spectrum of clinical, imaging, and functional presentation. The characteristic features of PH comprise of recurrent urolithiasis, renal stones, and/or nephrocalcinosis. Read More

Mol Genet Genomics 2022 May 25. Epub 2022 May 25.

Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430000, China.

Objective: Hereditary factors are the main cause of pediatric nephrolithiasis (NL)/nephrocalcinosis (NC). We summarized the genotype-phenotype correlation of hereditary NL/NC in our center, to evaluate the role of genetic testing in early diagnosis.

Methods: The clinical data of 32 NL/NC cases, which were suspected to have an inherited basis, were retrospectively analyzed from May 2017 to August 2020. Read More

JCI Insight 2022 May 24. Epub 2022 May 24.

Department of Medicine and Physiology, University of California, San Francisco, San Francisco, United States of America.

Nephrolithiasis is a common and recurrent disease affecting 9% of the US population. Hyperoxaluria is major risk factor for calcium oxalate kidney stones, which constitutes two-thirds of all kidney stones. Gastrointestinal epithelia play an important role in oxalate handling due to the presence of SLC26A family anion exchangers that facilitate oxalate transport. Read More

Front Chem 2022 4;10:844598. Epub 2022 May 4.

Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom.

Primary hyperoxaluria type I (PH1) is caused by AGXT gene mutations that decrease the functional activity of alanine:glyoxylate aminotransferase. A build-up of the enzyme's substrate, glyoxylate, results in excessive deposition of calcium oxalate crystals in the renal tract, leading to debilitating renal failure. Oxidation of glycolate by glycolate oxidase (or hydroxy acid oxidase 1, HAO1) is a major cellular source of glyoxylate, and siRNA studies have shown phenotypic rescue of PH1 by the knockdown of HAO1, representing a promising inhibitor target. Read More

Clin Kidney J 2022 May 17;15(Suppl 1):i23-i28. Epub 2022 May 17.

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

The clinical presentation of primary hyperoxaluria in children ranges from mildly symptomatic nephrocalcinosis to very early onset end-stage kidney failure with systemic oxalosis, a devastating complication. We review the various manifestations of pediatric hyperoxaluria, treatment options for children with preserved kidney function and appropriate dialysis regimens. Liver or combined liver/kidney transplantation is currently the only definitive treatment for primary hyperoxaluria type 1, but novel RNA interference treatments offer hope for the future. Read More

Clin Kidney J 2022 May 17;15(Suppl 1):i14-i16. Epub 2022 May 17.

Boston Children's Hospital, Department of Urology, Boston, MA, USA.

While the surgical approaches available in primary hyperoxaluria (PH) are common to all patients requiring intervention for urolithiasis, the indications for treatment and their corresponding toxicities are unique. Being a rare disease, we are guided by case series. This review summarizes the available literature highlighting the important disease-specific considerations. Read More

Clin Kidney J 2022 May 17;15(Suppl 1):i33-i36. Epub 2022 May 17.

Biochemistry Department, University Hospital of Sahloul, Sousse, Tunisia.

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inborn error of metabolism characterized by marked hepatic overproduction of oxalate due to deficiency of hepatic peroxisomal alanine-glyoxylate aminotransferase caused by gene mutation. One major hallmark of PH1 in developed as well as developing countries (DC) is the diagnostic delay. Notably in DC, where the disease is most prevalent and probably underdiagnosed, there are many challenges in PH1 diagnosis and management, with economic constrains and ethical concerns. Read More

Clin Kidney J 2022 May 17;15(Suppl 1):i1-i3. Epub 2022 May 17.

Department of Urology, University of Alabama at Birmingham, Birmingham, AL, USA.

Oxalate crystals in the kidney were first described in 1925. Since then, many major milestones have been reached in the understanding of genetic primary hyperoxaluria(s). Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease due to a mutation in the gene, which encodes the hepatic peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), inducing excess oxalate production and further kidney stones, nephrocalcinosis and chronic kidney disease (CKD). Read More

Clin Kidney J 2022 May 17;15(Suppl 1):i9-i13. Epub 2022 May 17.

Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Supportive treatment for primary hyperoxaluria type 1 (PH1) focuses on high fluid intake and crystallization inhibitors. A subset of patients with specific PH1 genotypes (c.508G>A and c. Read More

Clin Kidney J 2022 May 17;15(Suppl 1):i4-i8. Epub 2022 May 17.

Service de Biochimie et Biologie Moléculaire, Unité Maladies Héréditaires du Métabolisme, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.

Primary hyperoxaluria type 1 (PH1) is a rare genetic form of calcium oxalate kidney stone disease. It is caused by a deficiency in the liver-specific enzyme, alanine:glyoxylate aminotransferase (AGT), a pyridoxal-5'-phosphate (PLP)-dependent enzyme involved in the metabolism of glyoxylate. The excessive endogenous synthesis of oxalate that ensues leads to hyperoxaluria, and the crystallization of the poorly soluble calcium salt of oxalate is responsible for a severe kidney stone disease, which can progress to end-stage renal disease, systemic deposition of oxalate and death. Read More

Clin Kidney J 2022 May 17;15(Suppl 1):i17-i22. Epub 2022 May 17.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

Primary hyperoxaluria type 1 (PH1) is a rare and severe autosomal recessive disease of oxalate metabolism, resulting from a mutation in the gene that encodes the hepatic peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT). Until recently, treatment of PH1 was supportive, consisting of intensive hyperhydration, use of crystallization inhibitors (citrate and neutral phosphorus), in a subset of responsive PH1 patients' pharmacologic doses of vitamin B6 (pyridoxine), and kidney and liver transplantation when patients progressed to kidney failure. Treatment approaches have been similar for PH2 caused by mutations in hepatic glyoxylate reductase/hydroxypyruvate reductase (), although pyridoxine does not have any benefit in this group. Read More

Sci Rep 2022 May 19;12(1):8351. Epub 2022 May 19.

Laboratory of Natural Substances, Pharmacology, Environment, Modeling, Health, and Quality of Life (SNAMOPEQ), Department of Biology, Faculty of Sciences Dhar Mehraz, Sidi Mohamed Ben Abdellah University, 30000, Fez, Morocco.

Oxidative stress plays a role in hyperoxaluria-induced kidney injury and crystallization. Bee pollen is a hive product with a high content of antioxidants. The antioxidant content and protective effect of bee pollen extract (BPE) against ethylene glycol (EG) induced crystalluria, and acute kidney injury (AKI) were investigated. Read More

Kidney360 2022 03 22;3(3):546-549. Epub 2021 Oct 22.

Nephrology and Hypertension, Mayo Clinic College of Medicine & Science, Rochester, Minnesota.

Pediatr Nephrol 2022 May 12. Epub 2022 May 12.

Kindernierenzentrum, Bonn, Germany.

Background: Primary hyperoxalurias (PHs) are rare genetic diseases that increase the endogenous level of oxalate, a waste metabolite excreted predominantly by the kidneys and also the gut. Treatments aim to improve oxalate excretion, or reduce oxalate generation, to prevent kidney function deterioration. Oxalobacter formigenes is an oxalate metabolizing bacterium. Read More

Cureus 2022 Mar 29;14(3):e23616. Epub 2022 Mar 29.

Medical Genetics and Onco-genetics Laboratory, Central Laboratory of Medical Analysis, Hospital University Hassan II, Fez, MAR.

Nephrolithiasis (NL) and urolithiasis (UL) are usual reasons for hospitalization and presentation in pediatric outpatient departments and their incidence continues to rise worldwide. In Morocco, a previous epidemiological study done in the Fez region between January 2003 and November 2013 reported a prevalence of 0.83% of childhood UL. Read More

Eur J Med Chem 2022 Jul 25;237:114396. Epub 2022 Apr 25.

Departamento de Química Farmacéutica y Orgánica, Facultad de Farmacia, Campus de Cartuja S/n, 18071, Granada, Spain. Electronic address:

The synthesis and biological evaluation of double glycolate oxidase/lactate dehydrogenase inhibitors containing a salicylic acid moiety is described. The target compounds are obtained in an easily scalable two-step synthetic procedure. These compounds showed low micromolar IC values against the two key enzymes in the metabolism of glyoxylate. Read More

Nutrients 2022 Apr 14;14(8). Epub 2022 Apr 14.

Digestive Disease Unit, Aberdeen Royal Infirmary, Aberdeen AB25 2ZN, UK.

Short gut syndrome can lead to type 3 intestinal failure, and nutrition and hydration can only be achieved with parenteral nutrition (PN). While this is a lifesaving intervention, it carries short- and long-term complications leading to complex comorbidities, including chronic kidney disease. Through a patient with devastating inflammatory bowel disease's journey, this review article illustrates the effect of short gut and PN on kidney function, focusing on secondary hyperoxaluria and acute precipitants of glomerular filtration. Read More

Medicine (Baltimore) 2022 Mar 11;101(10):e28997. Epub 2022 Mar 11.

Division of Nephrology, Department of Internal Medicine, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Daegu, Republic of Korea.

Rationale: The Chaga mushroom (Hymenochaetaceae, Inonotus obliquus) is a fungus belonging to the Hymenochaetaceae family. It is parasitic on birch and other tree species. Chaga mushrooms are rich in various vitamins, minerals, and nutrients. Read More

Anaerobe 2022 Jun 17;75:102572. Epub 2022 Apr 17.

Renal Research Laboratory, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore, 632 014, Tamil Nadu, India. Electronic address:

Recent advances in understanding the association of gut microbiota with the host have shown evidence of certain bacterial therapeutic potentiality in preventing and treating metabolic diseases. Hyperoxaluria is a severe challenge in nephrology and has led to the novel gut eubiosis as current therapy. The human gut commensal, obligate anaerobic, and intestinal oxalate-degrading strains of Oxalobacter formigenes have drawn a promising significant interest for the next-generation probiotics (NGPs). Read More

Mol Ther Methods Clin Dev 2022 Jun 16;25:137-146. Epub 2022 Mar 16.

Regenerative Medicine Program, CIMA Universidad de Navarra, 31008 Pamplona, Spain.

Genome-editing strategies, especially CRISPR-Cas9 systems, have substantially increased the efficiency of innovative therapeutic approaches for monogenic diseases such as primary hyperoxalurias (PHs). We have previously demonstrated that inhibition of glycolate oxidase using CRISPR-Cas9 systems represents a promising therapeutic option for PH type I (PH1). Here, we extended our work evaluating the efficacy of liver-specific inhibition of lactate dehydrogenase (LDH), a key enzyme responsible for converting glyoxylate to oxalate; this strategy would not be limited to PH1, being applicable to other PH subtypes. Read More

J Vasc Access 2022 Apr 8:11297298221086854. Epub 2022 Apr 8.

Pediatric Intensive Care Unit, Hospital Regional Universitario de Málaga, Spain.

A 3-month-old male infant was admitted to our unit due to acute decompensation of chronic kidney disease of unknown etiology. Further investigation led to the diagnosis of primary hyperoxaluria type 1. As the patient did not recover, hemodialysis was initiated with a non-tunneled femoral catheter. Read More