1,553 results match your criteria primary hyperoxaluria


A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3.

Kidney Int 2021 Apr 15. Epub 2021 Apr 15.

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

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[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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Stone heart: An unusual case of heart failure with preserved ejection fraction due to massive myocardial calcification.

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

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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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Nedosiran dramatically reduces serum oxalate in dialysis-dependent primary hyperoxaluria 1: a compassionate use case report.

Urology 2021 Mar 24. Epub 2021 Mar 24.

Department of Urology, UCSF, San Francisco, CA. Electronic address:

Primary hyperoxaluria 1 (PH1) is a devastating condition involving recurrent urolithiasis, early end-stage renal disease (ESRD) and multisystemic deposition of calcium oxalate crystals. Treatment options for PH1 are limited, inevitably requiring transplantation, usually combined kidney and liver transplant. Here we report successful compassionate use of Nedosiran, an RNA interference (RNAi) targeting lactate dehydrogenase (LDH), in an index patient. Read More

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Recurrent Nephrolithiasis Causing Kidney Failure.

Am J Kidney Dis 2021 04;77(4):A18-A21

Division of Nephrology, Department of Medicine, Mount Sinai Hospital, New York, New York.

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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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Kidney transplant dysfunction in a patient with COVID - 19 infection: role of concurrent Sars-Cov 2 nephropathy, chronic rejection and vitamin C-mediated hyperoxalosis: case report.

BMC Nephrol 2021 03 15;22(1):91. Epub 2021 Mar 15.

Department of Renal Medicine, Heartlands Hospitals, Birmingham, Warwick Medical School University of Warwick, Warwick, UK.

Background: COVID-19 infection in kidney transplant recipients often lead to allograft dysfunction. The allograft injury has various histopathological manifestations. Our case illustrates the unusual combination of allograft rejection, acute kidney injury secondary to oxalate nephropathy and SARS CoV-2 nephropathy as the cause of irreversible allograft failure. 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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A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.

BMC Nephrol 2021 Mar 10;22(1):83. Epub 2021 Mar 10.

Academy of Medical Sciences, ZhengZhou University, Zhengzhou, China.

Background: Primary hyperoxaluria(PH)is a rare autosomal recessive genetic disease that contains three subtypes (PH1, PH2 and PH3). Approximately 80% of PH patients has been reported as subtype PH1, this subtype of PH has been related to a higher risk of renal failure at any age. Several genetic studies indicate that the variants in gene AGXT are responsible for the occurrence of PH1. Read More

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A hidden cause of oxalate nephropathy: a case report.

J Med Case Rep 2021 Mar 8;15(1):106. Epub 2021 Mar 8.

Department of Medicine, Division of Nephrology, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Background: Oxalate nephropathy is a rare disorder that can result in acute kidney injury (AKI) and progresses to end-stage kidney disease (ESKD). The causes can be either primary or secondary. Primary hyperoxaluria includes a group of hereditary disorders with enzymatic defects in the glyoxylate pathway, resulting in decreased oxalate metabolism. 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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QJM: An International Journal of MedicineTitle: "Imaging of Primary hyperoxaluria with classical renal and skeletal changes".

QJM 2021 Feb 8. Epub 2021 Feb 8.

Primary hyperoxaluria (PH) is a rare metabolic disorder with autosomal recessive inheritance pattern which is due to deficiency of alanine-glyoxylate aminotransferase enzyme. It causes defective glyoxylate metabolism in liver which in turn leads to excessive oxalate production and deposition. Supersaturation of oxalic acid in urine (>45 mg/day) is known as hyperoxaluria which causes nephrolithiasis, cortical nephrocalcinosis and renal insufficiency. Read More

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February 2021

Clinical and Metabolic Correlates of Pure Stone Subtypes.

J Endourol 2021 Feb 11. Epub 2021 Feb 11.

Indiana University School of Medicine, 12250, Urology, 1801 Senate Blvd. #220, Indianapolis, Indiana, United States, 46202;

: There are multiple stone types, each forming under different urinary conditions. We compared clinical and metabolic findings in pure stone formers to understand if there are consistent factors that differentiate these groups in terms of underlying etiology and potential for empiric treatment. : Pure SFs based on infrared spectroscopic analysis of stones obtained at our institution between 01/2002 and 07/2018 with a corresponding 24-hour urinalysis were retrospectively evaluated. Read More

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February 2021

Is stiripentol truly effective for treating primary hyperoxaluria?

Clin Kidney J 2021 Jan 25;14(1):442-444. Epub 2020 May 25.

Department of Pediatrics, Division of Pediatric Nephrology, University Children's Hospital of the Rheinische Friedrich-Wilhelms-University, Bonn, Germany.

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January 2021

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

An Infant Presenting with Seizures and Renal Failure.

Clin Chem 2021 Jan;67(2):444-446

Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.

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January 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

Small Molecule-Based Enzyme Inhibitors in the Treatment of Primary Hyperoxalurias.

J Pers Med 2021 Jan 27;11(2). Epub 2021 Jan 27.

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

Primary hyperoxalurias (PHs) are a group of inherited alterations of the hepatic glyoxylate metabolism. PHs classification based on gene mutations parallel a variety of enzymatic defects, and all involve the harmful accumulation of calcium oxalate crystals that produce systemic damage. These geographically widespread rare diseases have a deep impact in the life quality of the patients. 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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