950 results match your criteria hyperoxaluria type

[Management of Primary Hyperoxaluria Type 1 in Italy].

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

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Transplantation outcomes in patients with primary hyperoxaluria: a systematic review.

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

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Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.

N Engl J Med 2021 04;384(13):1216-1226

From the Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam (S.F.G., J.W.G.); the Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem (Y.F.); the Department of Nephrology, Birmingham Women's and Children's Hospital, Birmingham (S.A.H.), and the Department of Paediatric Nephrology, Great Ormond Street Hospital (W.G.H.), and UCL Department of Renal Medicine, Royal Free Hospital (S.H.M.), London - both in the United Kingdom; Jacksonville Center for Clinical Research, Jacksonville, FL (M.J.K.); eStudySite, San Diego, CA (W.D.O.); Center for Rare Renal Diseases and INSERM Pediatric Clinical Investigation Center-Hospices Civils de Lyon and Université de Lyon, Lyon (P.C.), and the Department of Pediatric Nephrology, Hôpital Robert-Debré, Paris (G.D.) - both in France; the Pediatric Nephrology Unit, Galilee Medical Center, Nahariya (H.S.-L.), and the Pediatric Nephrology Institute, Rambam Health Care Campus, Haifa (D.M.) - both in Israel; the Icahn School of Medicine at Mount Sinai, New York (J.M.S., K.A.M.); the Department of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland (D.G.F.); the University of Bonn, Bonn, Germany (G.S.); Al Jalila Children's Hospital, Dubai, United Arab Emirates (E.S.); the Divisions of Pediatric Nephrology and Hypertension (D.J.S.) and Nephrology and Hypertension (J.C.L.), Mayo Clinic, Rochester, MN; and Alnylam Pharmaceuticals, Cambridge, MA (J.L., M.T.S., P.P.G., A.K.V., J.M.G., T.L.M.).

Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate that leads to kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis. Lumasiran, an investigational RNA interference (RNAi) therapeutic agent, reduces hepatic oxalate production by targeting glycolate oxidase.

Methods: In this double-blind, phase 3 trial, we randomly assigned (in a 2:1 ratio) patients with PH1 who were 6 years of age or older to receive subcutaneous lumasiran or placebo for 6 months (with doses given at baseline and at months 1, 2, 3, and 6). Read More

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Microbial genetic and transcriptional contributions to oxalate degradation by the gut microbiota in health and disease.

Elife 2021 Mar 26;10. Epub 2021 Mar 26.

Department of Medicine, NYU Langone Health, New York, United States.

Over-accumulation of oxalate in humans may lead to nephrolithiasis and nephrocalcinosis. Humans lack endogenous oxalate degradation pathways (ODP), but intestinal microbes can degrade oxalate using multiple ODPs and protect against its absorption. The exact oxalate-degrading taxa in the human microbiota and their ODP have not been described. Read More

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Combined liver kidney transplantation for primary hyperoxaluria type 1: Will there still be a future? Current transplantation strategies and monocentric experience.

Pediatr Transplant 2021 Mar 20:e14003. Epub 2021 Mar 20.

General Surgery 2U and Liver Transplant Unit, Department of Surgical Sciences, A.O.U. Città della Salute e della Scienza, Molinette Hospital, University of Torino, Torino, Italy.

Combined liver-kidney transplantation is a therapeutic option for children affected by type 1 primary hyperoxaluria. Persistently high plasma oxalate levels may lead to kidney graft failure. It is debated whether pre-emptive liver transplantation, followed by kidney transplantation, might be a better strategy to reduce kidney graft loss. Read More

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Choroidal neovascularization in a child with infantile primary hyperoxaluria treated with bevacizumab.

J AAPOS 2021 Mar 15. Epub 2021 Mar 15.

Department of Ophthalmology, Duke University, Durham, North Carolina. Electronic address:

Fundus manifestations of primary hyperoxaluria include crystalline deposits, focal or diffuse macular hyperpigmentation, and subretinal fibrosis. Choroidal neovascularization has been hypothesized to underlie the pathogenesis of subretinal fibrosis, yet its manifestations are rarely observed. We report a case of infantile primary hyperoxaluria type 1 in a 17-month-old infant with macular subretinal fluid and subretinal hemorrhage that was associated with leakage on fluorescein angiography and responded to bevacizumab treatment, consistent with choroidal neovascularization. Read More

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Clinical analysis of 13 children with primary hyperoxaluria type 1.

Urolithiasis 2021 Mar 15. Epub 2021 Mar 15.

Department of Organ Transplantation, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.

A retrospective statistical analysis of primary hyperoxaluria type 1 (PH1) in children from June 2016 to May 2019 was carried out to discover its clinical and molecular biological characteristics. Patients were divided into two groups (infant and noninfant) according to clinic type. There were 13 pediatric patients (male:female = 6:7) with PH1 in the cohort from 11 families (four of which were biological siblings from two families), whose median age of symptom onset was 12 months and median confirmed diagnosis age was 14 months. Read More

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Long-term complications of systemic oxalosis in children-a retrospective single-center cohort study.

Pediatr Nephrol 2021 Mar 2. Epub 2021 Mar 2.

Institute of Pediatric Nephrology, Shaare Zedek Medical Center, 12 Shmuel Bait St., 9103102, Jerusalem, Israel.

Background: Systemic oxalosis is a severe complication seen in primary hyperoxaluria type I patients with kidney failure. Deposition of insoluble calcium oxalate crystals in multiple organs leads to significant morbidity and mortality.

Methods: We describe a retrospective cohort of 11 patients with systemic oxalosis treated at our dialysis unit from 1982 to 1998 (group 1) and 2007-2019 (group 2). Read More

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Calciphylaxis or vascular oxalosis?

Clin Kidney J 2021 Jan 18;14(1):435-438. Epub 2020 Jan 18.

Division of Nephrology, Indiana University School of Medicine, Indianapolis, IN, USA.

We report the case of a 31-year-old female with primary hyperoxaluria type 1 with end-stage kidney disease who developed severe peripheral vascular disease leading to limb amputation initially thought to be secondary to calciphylaxis. However, polarized review of the pathologic specimen revealed calcium oxalate deposition in the lumen of blood vessels. This unusual presentation of systemic oxalosis demonstrates the adverse consequences of elevations of serum oxalate in patients with hyperoxaluria and that levels can acutely worsen with abrupt onset of kidney failure. Read More

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January 2021

Clinical characterization of primary hyperoxaluria type 3 in comparison to types 1 and 2: a retrospective cohort study.

Nephrol Dial Transplant 2021 Feb 5. Epub 2021 Feb 5.

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

Background: Primary hyperoxaluria type 3 (PH3) is caused by mutations in the HOGA1 gene. PH3 patients often present with recurrent urinary stone disease (USD) in first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. The current study characterized clinical manifestations of PH3 across the decades of life in comparison to PH1 and PH2. Read More

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February 2021

Plasma oxalate and eGFR are correlated in primary hyperoxaluria patients with maintained kidney function-data from three placebo-controlled studies.

Pediatr Nephrol 2021 Jan 30. Epub 2021 Jan 30.

OxThera Intellectual Property AB, Stockholm, Sweden.

Background: In patients with primary hyperoxaluria (PH), endogenous oxalate overproduction increases urinary oxalate excretion, leading to compromised kidney function and often kidney failure. Highly elevated plasma oxalate (Pox) is associated with systemic oxalate deposition in patients with PH and severe chronic kidney disease (CKD). The relationship between Pox and estimated glomerular filtration rate (eGFR) in patients with preserved kidney function, however, is not well established. Read More

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January 2021

New Drugs for Rare Disorders.

Am J Nurs 2021 02;121(2):27

Diane S. Aschenbrenner is an assistant professor at Notre Dame of Maryland University in Baltimore. She also coordinates Drug Watch:

Several new drugs have been approved to treat rare genetic disorders: setmelanotide for certain conditions causing obesity; lumasiran for primary hyperoxaluria type 1, a kidney disorder; and lonafarnib for two diseases that cause premature aging. Read More

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February 2021

Structural and chemical heterogeneities of primary hyperoxaluria kidney stones from pediatric patients.

J Pediatr Urol 2020 Nov 20. Epub 2020 Nov 20.

Division of Preclinical Education, Biomaterials & Engineering, School of Dentistry, University of California San Francisco, San Francisco, CA, 94143, USA; Department of Urology, School of Medicine, University of California San Francisco, San Francisco, CA, 94143, USA. Electronic address:

Objective: Calcium oxalate stones are the most common type among stone-forming patients and in some cases result from predisposed genetic conditions. In this work, we examined the differences in structure and chemical composition between oxalate stones from patients from three groups: 1) pediatric patients that were genetically predisposed (primary hyperoxaluria) to form stones (PPH); 2) control pediatric patients that did not have such genetic predisposition (PN-PH); 3) adult patients that formed oxalate stones without the genetic predisposition (A-CaOx). A variety of instrumental analyses were conducted to identify physicochemical properties of stones characteristic of predisposed pediatric (PPH), pediatric hyperoxaluria (PN-PH), and adult (A-CaOx) patient populations. Read More

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November 2020

Generation and characterization of a novel rat model of primary hyperoxaluria type 1 with a nonsense mutation in alanine-glyoxylate aminotransferase gene.

Am J Physiol Renal Physiol 2021 03 25;320(3):F475-F484. Epub 2021 Jan 25.

Department of Pediatric Urology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.

Primary hyperoxaluria type 1 (PH1) is a severe inherited disorder caused by a genetic defect in alanine-glyoxylate aminotransferase (), which results in recurrent urolithiasis and renal failure. Animal models that precisely reflect human PH1 phenotypes are lacking. We aimed to develop a novel PH1 rat model and study the mechanisms involved in PH1 deterioration. Read More

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[Nephrocalcinosis in children].

Nephrol Ther 2021 Feb 15;17(1):58-66. Epub 2021 Jan 15.

Service de pédiatrie, unité de néphrologie pédiatrique, centre de références des maladies rénales rares, CHU de Bordeaux, place Amélie-Raba-Léon, 33000 Bordeaux, France. Electronic address:

Nephrocalcinosis is defined by calcium phosphate or calcium oxalate deposits in the kidney parenchyma, particularly in tubular epithelial cells and interstitial tissue. It should be differentiated from urolithiasis where calcium salts deposits are located in the kidney and urinary tract. The epidemiology of nephrocalcinosis in children is unknown but the condition is not so rare, with an increased incidence in preterm infants. Read More

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February 2021

Novel mutations in response to vitamin B6 in primary hyperoxaluria type 1 after only kidney transplantation: a case report.

Transl Androl Urol 2020 Dec;9(6):2848-2854

Institute of Organ Transplantation, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Recently, the mainstream curative treatment for primary hyperoxaluria type 1 (PH1) is combined liver and kidney transplantation, and only kidney transplantation is considered ineffective for most PH1 patients. Furthermore, vitamin B6 (B6) is the only permitted drug available for treatment. However, except for specific mutations such as G170R and F152I in gene , data of B6 effect on other mutations are lacking. Read More

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December 2020

Liver transplant as a curative treatment in a pediatric patient with classic homocystinuria: A case report.

Am J Med Genet A 2021 04 14;185(4):1247-1250. Epub 2021 Jan 14.

Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

We report a patient with homocystinuria and hyperoxaluria who was cured of homocystinuria-related disease following liver transplant. The patient was diagnosed with homocystinuria as a newborn and was treated with dietary modifications and supplements. At 22 months, he passed a calcium oxalate stone and was found to have numerous bilateral kidney stones. Read More

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Potential Involvement of Peroxisome in Multiple Sclerosis and Alzheimer's Disease : Peroxisome and Neurodegeneration.

Adv Exp Med Biol 2020 ;1299:91-104

Team 'Biochemistry of the Peroxisome, Inflammation and Lipid Metabolism' EA 7270/University of Bourgogne Franche-Comté/Inserm, Dijon, France.

Peroxisomopathies are rare diseases due to dysfunctions of the peroxisome in which this organelle is either absent or with impaired activities. These diseases, at the exception of type I hyperoxaluria and acatalasaemia, affect the central and peripheral nervous system. Due to the significant impact of peroxisomal abnormalities on the functioning of nerve cells, this has led to an interest in peroxisome in common neurodegenerative diseases, such as Alzheimer's disease and multiple sclerosis. Read More

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February 2021

Lumasiran: First Approval.

Drugs 2021 Feb;81(2):277-282

Springer Nature, Mairangi Bay, Private Bag 65901, Auckland, 0754, New Zealand.

Lumasiran (Oxlumo™) is a subcutaneously administered small interfering RNA (siRNA) targeting the mRNA for hydroxyacid oxidase 1 gene (HAO1; encodes glycolate oxidase) and was developed by Alnylam Pharmaceuticals for the treatment of primary hyperoxaluria type 1 (PH1). By silencing the gene encoding glycolate oxidase, lumasiran depletes glycolate oxidase and thereby inhibits the synthesis of oxalate, which is the toxic metabolite that is directly associated with the clinical manifestations of PH1. On 19 November 2020, lumasiran received its first global approval in the EU for the treatment of PH1 in all age groups. Read More

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February 2021

Knockdown of lactate dehydrogenase by adeno-associated virus-delivered CRISPR/Cas9 system alleviates primary hyperoxaluria type 1.

Clin Transl Med 2020 Dec;10(8):e261

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

Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder caused by endogenous overproduction of hepatic oxalate, leading to hyperoxaluria, recurrent calcium oxalate kidney stones, and end-stage renal disease. Lactate dehydrogenase (LDH) is an ideal target for diminishing oxalate production as it is responsible for glyoxylate to oxalate conversion in the liver, the last step of oxalate metabolism. Here, we investigated the therapeutic efficacy and potential side effects of clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 technology to ameliorate PH1 via specifically disrupting the hepatic LDH. Read More

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December 2020

Mutations in do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.

J Urol 2020 Dec 22:101097JU0000000000001528. Epub 2020 Dec 22.

Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.

Purpose: The etiology of calcium-oxalate kidney stone formation remains elusive. Biallelic mutations in are responsible for primary hyperoxaluria type 3 and result in oxalate overproduction and kidney stone disease. Our previous study showed that carriers of mutations have elevated urinary levels of oxalate precursors. Read More

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December 2020

Transplantation for Primary Hyperoxaluria Type 1: Designing New Strategies in the Era of Promising Therapeutic Perspectives.

Kidney Int Rep 2020 Dec 24;5(12):2136-2145. Epub 2020 Sep 24.

Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease caused by the functional defect of alanine-glyoxylate aminotransferase that results in the overproduction of oxalate. It can be devastating especially for kidneys, leading to end-stage renal disease (ESRD) during the first 2 to 3 decades of life in most patients. Consequently, many PH1 patients need kidney transplantation. Read More

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December 2020

Combined liver-kidney transplantation for rare diseases.

World J Hepatol 2020 Oct;12(10):722-737

Department of Medicine, Merkur University Hospital, Zagreb 10000, Croatia.

Combined liver and kidney transplantation (CLKT) is indicated in patients with failure of both organs, or for the treatment of end-stage chronic kidney disease (ESKD) caused by a genetic defect in the liver. The aim of the present review is to provide the most up-to-date overview of the rare conditions as indications for CLKT. They are major indications for CLKT in children. Read More

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October 2020

Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones.

Orphanet J Rare Dis 2020 11 11;15(1):319. Epub 2020 Nov 11.

Division of Nephrology and Hypertension, College of Medicine and Science, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.

Background: Primary hyperoxaluria type 1 (PH1) is associated with nephrocalcinosis (NC) and calcium oxalate (CaOx) kidney stones (KS). Populations of urinary extracellular vesicles (EVs) can reflect kidney pathology. The aim of this study was to determine whether urinary EVs carrying specific biomarkers and proteins differ among PH1 patients with NC, KS or with neither disease process. Read More

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November 2020

Limited Treatment Options in Primary Hyperoxaluria with Renal Failure.

Case Rep Nephrol Dial 2020 Sep-Dec;10(3):104-108. Epub 2020 Oct 5.

Elson S. Floyd College of Medicine, Washington State University, Spokane, Washington, USA.

Primary hyperoxaluria (PH) is a rare autosomal recessive metabolic disorder where serum oxalate levels rise due to overproduction. The kidney tubule is a main target for oxalate deposition, resulting in damage to the organ. Kidney failure is rare in these patients. Read More

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October 2020

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

BMC Med Genet 2020 11 2;21(1):216. Epub 2020 Nov 2.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Background: To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).

Methods: After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria. Read More

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November 2020

Combined liver and kidney transplantation in children and long-term outcome.

World J Transplant 2020 Oct;10(10):283-290

Department of Clinical Nutrition, Lady Ridgeway Hospital for Children, Colombo 0094, Sri Lanka.

Combined liver-kidney transplantation (CLKT) is a rarely performed complex surgical procedure in children and involves transplantation of kidney and either whole or part of liver donated by the same individual (usually a cadaver) to the same recipient during a single surgical procedure. Most common indications for CLKT in children are autosomal recessive polycystic kidney disease and primary hyperoxaluria type 1. Atypical haemolytic uremic syndrome, methylmalonic academia, and conditions where liver and renal failure co-exists may be indications for CLKT. Read More

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October 2020

Deleterious Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep.

Genes (Basel) 2020 Sep 29;11(10). Epub 2020 Sep 29.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.

Severe oxalate nephropathy has been previously reported in sheep and is mostly associated with excessive oxalate in the diet. However, a rare native Dutch breed (Zwartbles) seems to be predisposed to an inherited juvenile form of primary hyperoxaluria and no causative genetic variant has been described so far. This study aims to characterize the phenotype and genetic etiology of the inherited metabolic disease observed in several purebred Zwartbles sheep. Read More

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September 2020