Distúrbio hereditário caracterizado pela produção excessiva de oxalato, levando à hiperoxalúria.
Introdução
O que você precisa saber de cara
Distúrbio hereditário caracterizado pela produção excessiva de oxalato, levando à hiperoxalúria.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 66 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:23229545, PubMed:24055001, PubMed:26149463). Also catalyzes the transamination between L-serine and pyruvate and contributes to gluconeogenesis from the L-serine metabolism (PubMed:10347152)
Peroxisome
Hyperoxaluria primary 1
An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease.
Catalyzes the final step in the metabolic pathway of hydroxyproline
Mitochondrion
Hyperoxaluria primary 3
A disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection.
Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate, oxidizes D-glycerate to hydroxypyruvate
Hyperoxaluria primary 2
A disorder characterized by elevated urinary excretion of oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
938 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,136 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hiperoxalúria primária
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
9 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
51 ensaios clínicos encontrados, 13 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 731
Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.
Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine-glyoxylate aminotransferase mislocalization. Patient-derived fibroblasts were induced to pluripotent stem cells, genetically corrected with adenine base editing, and subsequently differentiated into hepatocyte-like cells in parallel with their non-corrected isogenic counterparts. Enzyme localization was assessed through immunocytochemistry and confocal microscopy. The key metabolites associated with the disease were analyzed using liquid chromatography-mass spectrometry to evaluate the metabolic phenotype. Finally, lipid nanoparticle formulations were designed and tested as an in vivo-applicable delivery method for base editors. All induced pluripotent stem cell lines successfully differentiated into hepatocyte-like cells and expressed essential hepatocyte markers, including ALB, HNF1A, and AGXT. Adenine base editor-mediated genetic correction of the pathogenic AGXT mutation restored enzyme localization into peroxisomes and diminished oxalate accumulation without significant off-target effects. Base editor mRNA and AGXT variant targeting single guide RNA encapsulated within lipid nanoparticles mediated gene correction in the hepatocyte-like cell model. Using an in vitro model of primary hyperoxaluria type 1, we showed that base editor-mediated genetic correction of the most common hyperoxaluria-causing variant corrects enzyme mislocalization from mitochondria to peroxisomes and improves metabolic function. These results propose gene correction as a potential therapeutic approach to hyperoxaluria.
N-Propargylglycine Restores Survival by Preventing Calcium Oxalate Stone Formation, Tubular Injury, and Kidney Dysfunction in a Lethal Mouse Model of Primary Hyperoxaluria Type 2.
New therapeutics are needed to address the rapid progression of calcium oxalate (CaOx) nephrolithiasis and life-threatening kidney failure afflicting infants and young adults with one of the three different genetic types of Primary Hyperoxaluria (PH) types 1, 2, and 3. Glyoxylate and hydroxypyruvate reductase knockout (Grhpr KO) mice recapitulate the pathophysiology of PH type 2 (PH2), developing accelerated hyperoxaluria and CaOx kidney stone formation. Previous studies have shown that this process can be mitigated by introducing an additional genetic knockout of the liver and kidney mitochondrial enzyme, hydroxyproline dehydrogenase (Hypdh/Prodh2), which is responsible for the first step in liver production of glyoxylate and oxalate. Using Grhpr KO mice, we evaluated N-propargylglycine (N-PPG) as a preclinical candidate for PH2, measuring oxalate levels, CaOx stone formation, Cystatin C levels, albumin/creatinine ratio, kidney tubule damage by kidney injury molecule-1 and Lotus Tetragonolobus lectin immunohistochemistry, metabolites, weight, and lifespan. Oral administration of N-PPG, a well-tolerated small-molecule inhibitor of Hypdh/Prodh2, significantly reduces hyperoxaluria and weight loss in Grhpr KO mice within three weeks, while preventing CaOx stone formation and kidney tubular damage. In a 24-week survival study during which vehicle-treated Grhpr KO mice exhibit a median survival of only 15 weeks, daily treatment with N-PPG fully restores weight and survival in the Grhpr KO mice to that of wild-type control mice. N-PPG suppressed hyperoxaluria during this extended treatment period, preventing CaOx stone formation, kidney tubule injury and loss of kidney function, achieving beneficial outcomes in this PH2 mouse model comparable to controls. Our findings establish N-PPG as a promising therapeutic candidate for the long-term prevention of CaOx kidney stone formation and kidney failure complications in PH2.
Oxalate Nephropathy in a Patient With Chronic Pancreatitis and Recent Surgery: A Clinical Conundrum.
Calcium oxalate nephropathy is a rare condition with both primary and secondary causes. Primary hyperoxaluria, an inherited disorder, leads to liver oxalate overproduction, whereas secondary hyperoxaluria, or enteric hyperoxaluria, may be multifactorial and typically occurs during adulthood, with etiologies including increased dietary intake of oxalate, destruction of the microbiota in the gastrointestinal tract that break down oxalate, and malabsorptive disorders that increase serum oxalate levels. Calcium oxalate crystal deposition can cause irreversible kidney injury necessitating kidney replacement therapy. Prompt recognition of the underlying etiology is necessary to minimize complications. Here, we present a case of calcium oxalate nephropathy of unclear initial etiology. Further consideration is given to alternative therapeutic options that address oxalate deposition-associated interstitial inflammation.
Genomic testing in pediatric urology: Implications for diagnosis and management.
Genomic medicine is becoming increasingly relevant to pediatric urology. Developing an understanding of which children might benefit from genomic testing and how genomic results might impact clinical decision-making will become a necessary skill in the next few years. A genetic diagnosis can provide certainty, prompt screening of other organ systems, guide treatment and surveillance, enable testing of family members and inform reproductive counselling. In this review, we provide an overview of several monogenic conditions that might be encountered in the pediatric urology clinic and guidance on when to refer for genomic testing. We discuss monogenic congenital uropathies and how knowledge of the genetic basis of these conditions has improved understanding of disease pathophysiology. We summarise recommendations for genomic testing in pediatric stone formers, of whom around 20 % have a monogenic cause, and show how this can facilitate access to targeted therapies (e.g. primary hyperoxaluria type 1). Finally, we review how genotype-phenotype correlations can be used to guide risk stratification, surveillance protocols and screening of other organ systems in children at risk of Wilms tumour.
Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.
Primary hyperoxaluria type 2 is a rare genetic disorder of oxalate due to a defect in the glyoxalate reductase/hydroxypyruvate reductase enzyme. This study aimed to describe the characteristics and outcomes in a pediatric population from a single center in Pakistan. This study was conducted at the Sindh Institute of Urology and Transplantation (SIUT), Karachi, from January 2010 to December 2022, involving children under 18 years with nephrocalcinosis. Data collected included demographics, clinical features, laboratory findings, imaging results, family history of kidney stones, and consanguinity. Genetic testing, including next-generation sequencing and Sanger sequencing, was performed, and patients were followed for 24 months to monitor the progression of chronic kidney disease (CKD) stages. Fifty-two children were diagnosed with primary hyperoxaluria type 2 (PH2) confirmed by genetic testing. The majority were male (56%), between 5 and 10 years of age (46%), and from the Sindh province (62%). Seventeen distinct GRHPR gene mutations were identified, predominantly missense variants. The most frequent mutation was Gly165Asp (observed in 12 patients), followed by Leu6Phe and Trp138Arg (8 and 7 patients, respectively). Six of the identified mutations were novel. At presentation, 30% of children were in CKD stage 5, and this proportion increased to 42% after 24 months of follow-up. Male sex and higher baseline serum creatinine were significant predictors of progression to CKD stage 5. This is the first reported PH2 cohort from Pakistan, highlights a significant disease burden with diverse GRHPR mutations, with most patients presenting in advanced CKD stage 5 at diagnosis.
Publicações recentes
Impact of Ser81 phosphorylation on alanine: glyoxylate aminotransferase associated with Primary hyperoxaluria type I.
Novel AAV843 Vector-Mediated Gene Replacement Therapy Rescues Primary Hyperoxaluria Type I in Mice.
Delayed Diagnosis of Primary Hyperoxaluria and Systemic Oxalosis in a Hemodialysis Patient: A Case Report and Literature Review.
Urine microscopy revealing a metabolic disorder: a case report.
N-propargylglycine restores survival by preventing calcium oxalate stone formation, tubular injury, and kidney dysfunction in a lethal mouse model of primary hyperoxaluria type 2.
📚 EuropePMC1.135 artigos no totalmostrando 198
N-Propargylglycine Restores Survival by Preventing Calcium Oxalate Stone Formation, Tubular Injury, and Kidney Dysfunction in a Lethal Mouse Model of Primary Hyperoxaluria Type 2.
Kidney internationalOxalate Nephropathy in a Patient With Chronic Pancreatitis and Recent Surgery: A Clinical Conundrum.
Kidney medicinePublisher Correction: Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.
Pediatric nephrology (Berlin, Germany)Coexistence of autosomal dominant polycystic kidney disease and primary hyperoxaluria type 3.
Kidney internationalGenomic testing in pediatric urology: Implications for diagnosis and management.
Journal of pediatric urologyClinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.
Pediatric nephrology (Berlin, Germany)Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.
Journal of clinical medicineA Case of Successful Kidney Transplant-Alone in Primary Hyperoxaluria Type 1 Using Lumasiran.
Clinical transplantationThe Dawn of Precision Medicine in Pediatric Nephrology: Lumasiran and the Era of siRNA Therapies for Primary Hyperoxaluria Type 1.
Journal of personalized medicineThe oxalobiome: unraveling the role of gut microbiota in oxalate metabolism and its implications for kidney health and disease management.
Clinica chimica acta; international journal of clinical chemistryPrimary hyperoxaluria(s): from trials to real-life data and pipeline therapies.
Kidney internationalHyperoxaluria by the AGXT gene: a case report.
Journal of medical case reportsCurrent status of primary hyperoxaluria type 1 in Japan.
UrolithiasisDon't think that combined liver kidney transplant can solve everything in primary hyperoxaluria type 1!
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationTen tips on the work-up and management of CKD patients with nephrolithiasis.
Clinical kidney journalTargeting Oxalate Production by Combining Enzyme Inhibition and Proteolysis Activation: A Novel Therapeutic Approach for Primary Hyperoxaluria Type 1.
Journal of medicinal chemistryNanobodies as therapies for loss-of-function misfolding diseases: the example of Primary Hyperoxaluria Type 1.
International journal of biological macromoleculesFinal Results of the ILLUMINATE-A Phase 3 Clinical Trial of Lumasiran for Primary Hyperoxaluria 1.
Clinical journal of the American Society of Nephrology : CJASNGenetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.
Journal of inherited metabolic diseaseLNP-mediated in vivo base editing corrects Agxt to cure primary hyperoxaluria type 1.
Clinical and translational medicineOxalate nephropathy precipitated by linaclotide in a high-risk patient.
Clinical nephrology. Case studiesSurgical Management of Pediatric Primary Hyperoxaluria Type 1: An Eight-Patient Case Series in the Pre-siRNA Era.
Pediatric transplantationDifferential clinical characteristics of Chinese children with primary hyperoxaluria type 3.
Pediatric nephrology (Berlin, Germany)Natural History of Advanced Primary Hyperoxaluria Type 1: A Retrospective Study.
Kidney medicinePrimary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.
Orphanet journal of rare diseasesPiperacillin Pharmacokinetics in a Pediatric Patient With Primary Hyperoxaluria Receiving High-Dose Continuous Dialysis Post Liver-Kidney Transplant.
The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAGRecognizing Primary Hyperoxaluria in Adults through Urine Oxalate Crystal Detection. Literature Review and Data Analysis.
Archivos espanoles de urologiaReal-world burden of primary hyperoxaluria with chronic kidney disease in the United States: a retrospective administrative claims analysis.
BMC nephrology[Primary hyperoxaluria-induced bilateral oxalate retinopathy: a case report].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyRNA interference medication and transplantation procedures in patients with primary hyperoxaluria type 1 (PH1).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationTransplant Without Borders: Clinical Outcomes and Challenges in Transborder Living Donor Pediatric Liver Transplantation in Jordan.
Therapeutics and clinical risk managementUrine Oxalate Excretion and CKD Stage in Patients With Primary Hyperoxaluria Type 1.
American journal of kidney diseases : the official journal of the National Kidney FoundationLong-term lumasiran therapy final results from a Phase 2 open-label extension study in primary hyperoxaluria.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationPrimary Hyperoxaluria Type 2 Masquerading as Chronic Kidney Disease of Unknown Origin in an Adolescent: A Case Report.
CureusA reliable LC-MS/MS method for urinary oxalate determination and its comparison with analogous assays.
Clinica chimica acta; international journal of clinical chemistryPrimary Hyperoxaluria Type 1: An Unexpected Diagnosis after Kidney Transplantation.
Kidney & blood pressure researchGlobal genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Clinical kidney journalLiver Transplantation in Childhood: A 2-Year Single Center Experience.
Transplantation proceedingsWhole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.
Kidney international reportsThe evolving role of liver transplantation as enzyme replacement therapy in the era of RNA nanotherapies.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant SurgeonsGenetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.
Clinical journal of the American Society of Nephrology : CJASNRNA therapeutics in kidney diseases: prospects and current status.
Clinical kidney journalDietary Oxalate Nephropathy Due to Pureed Feeds.
Kidney medicineFunctional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.
The Journal of biological chemistryGenetic Insights Into Nephrolithiasis and Renal Cancer Predisposition: Precision Medicine in Genes, Diagnosis, and Therapy.
Seminars in nephrologyLumasiran at birth changes the trajectory of primary hyperoxaluria type 1: same disease, different outcomes in two affected siblings.
Journal of nephrologyPHYOX3: Nedosiran Long-Term Safety and Efficacy in Patients With Primary Hyperoxaluria Type 1.
Kidney international reportsHyperoxaluria: Diagnosis and Treatment.
The Urologic clinics of North AmericaPopulation Pharmacokinetic and Pharmacodynamic Modelling and Simulation for Nedosiran Clinical Development and Dose Guidance in Pediatric Patients with Primary Hyperoxaluria Type 1.
Clinical pharmacokineticsChronic leg ulcers in a patient with Hyperoxaluria type 1: a rare and challenging diagnosis.
Oxford medical case reportsNormal urinary oxalate excretion in 4-hydroxy-2-oxo-glutarate aldolase 1 (HOGA1) deficient mice with AGT expression in peroxisomes and not in mitochondria.
Biochimica et biophysica acta. Molecular basis of diseasePlasma Glycolate Levels Contribute to Drive the Decision of Isolated Kidney Transplantation in Dialyzed Patients with End-Stage Kidney Disease due to Primary Hyperoxaluria Type 1 Treated with Lumasiran: A Case Report.
Case reports in nephrology and dialysisKidney stones and metabolic bone diseases not linked to parathyroid disfunction: a proposal for an integrated management.
Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica[Administration of lumasiran in a child with infantile oxalosis undergoing chronic peritoneal dialysis: A case report].
Nephrologie & therapeutiqueA Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT.
Journal of inherited metabolic diseasePrimary hyperoxaluria type 1 diagnosis in adult dialysis patients: prediction model assessment in a group of Italian patients.
Journal of nephrologyPrimary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: a case report of sodium thiosulfate treatment.
Frontiers in pharmacologyUpdated Gene Therapy for Renal Inborn Errors of Metabolism.
GenesPhenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
GenesLiver Transplantation in Primary Hyperoxaluria: A Single-Center 10-Year Experience.
Pediatric transplantationUnderstanding Rare Kidney Stone Diseases: A Review.
American journal of kidney diseases : the official journal of the National Kidney FoundationTreatment preferences among individuals with primary hyperoxaluria type 1 (PH1): a real-world study.
Orphanet journal of rare diseasesReal-Life Data of 2-Year Lumasiran Use in the DAILY-LUMA Cohort.
Kidney international reportsThe efficacy and safety of RNA interference for the treatment of primary hyperoxaluria: a systematic review and meta-analysis.
Clinical kidney journalHidden in CAKUT: Post-Transplant Diagnosis of Primary Hyperoxaluria Type 1 and Rescue Management Using Lumasiran.
Pediatric transplantationPreclinical evaluation of AGT mRNA replacement therapy for primary hyperoxaluria type I disease.
Science advancesControlled access to lumasiran in primary hyperoxaluria type 1: evaluation of a new access route for orphan drugs in the Netherlands.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationDiscovery of first-in-class human glycolate oxidase near infrared molecular rotor inhibitors (NIRGOi).
European journal of medicinal chemistryHOGA1 Suppresses Renal Cell Carcinoma Growth via Inhibiting the Wnt/β-Catenin Signalling Pathway.
Journal of cellular and molecular medicineEfficacy and Safety of Lumasiran for Advanced Primary Hyperoxaluria Type 1: 24-Month Follow-up of the Phase 3 ILLUMINATE-C Trial.
American journal of kidney diseases : the official journal of the National Kidney FoundationShort and Long-Term Outcomes of Liver Transplantation in Pediatric Patients With Inborn Errors of Metabolism: A Single-Center Study.
Pediatric transplantationFine-tuning circulating oxalate levels to improve transplant strategies in primary hyperoxaluria: what is the ideal threshold in pediatrics?
Nephrologie & therapeutiqueA Targeted Release Capsule of Lanthanum Carbonate: a New Efficient Cheap Treatment for Primary Hyperoxalurias.
Kidney international reportsConcomitant Treatment With Lumasiran and Nedosiran in a Child With Primary Hyperoxaluria Type 1.
Kidney international reportsGlobal access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationGenetic Diagnosis of Hyperoxaluria Type 3 Patients Using Haplotype Analysis.
Kidney & blood pressure research[Management of patients with kidney stones].
Nephrologie & therapeutiqueKidney Stones in Children: Causes, Consequences, and Concerns.
Indian pediatricsModified J-shaped incision for combined pediatric liver-kidney transplants (CLKT): Focusing on the urological outcomes.
Journal of pediatric urologyManagement of genetically determined kidney stone disease: consensus from a panel of urologists and nephrologists.
Minerva urology and nephrologyEfficacy and safety of Oxalobacter formigenes in patients with primary hyperoxaluria: A systematic review and meta-analysis of randomized controlled trials.
Indian journal of urology : IJU : journal of the Urological Society of IndiaNedosiran in pediatric patients with PH1 and relatively preserved kidney function, a phase 2 study (PHYOX8).
Pediatric nephrology (Berlin, Germany)Biochemical, structural, and cellular characterization of S-but-3-yn-2-ylglycine as a mechanism-based covalent inactivator of the flavoenzyme proline dehydrogenase.
Archives of biochemistry and biophysicsVariable treatment response to lumasiran in pediatric patients with primary hyperoxaluria type 1.
Pediatric nephrology (Berlin, Germany)Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria.
Kidney international reportsSynthesis and hLDHA Inhibitory Activity of New Stiripentol-Related Compounds of Potential Use in Primary Hyperoxaluria.
International journal of molecular sciencesSpinal Cord Compression as the First Presentation of Primary Hyperoxaluria in a Patient With Kidney Failure: A Case Report and Literature Review.
Kidney medicineIdentification of a novel GRHPR mutation in primary hyperoxaluria type 2 and establishment of patient-derived iPSC line.
Human cellBiallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.
Nephrology (Carlton, Vic.)Cutting through the stones: Unlocking therapeutic potential with gene editing tools for primary hyperoxaluria type 1.
Molecular therapy : the journal of the American Society of Gene TherapyApplication of four pricing models for orphan medicines: a case study for lumasiran.
Orphanet journal of rare diseasesStenotrophomonas maltophilia in Hemodialysis: An Opportunistic Pathogen or a Malevolent Foe.
CureusEffect of the allelic background on the phenotype of primary hyperoxaluria type I.
Current opinion in nephrology and hypertensionEfficient and safe in vivo treatment of primary hyperoxaluria type 1 via LNP-CRISPR-Cas9-mediated glycolate oxidase disruption.
Molecular therapy : the journal of the American Society of Gene TherapyThe lack of trade-off between conformational stability and binding affinity in a nanobody with therapeutic potential for a misfolding disease.
International journal of biological macromoleculesHuman glyoxylate metabolism revisited: New insights pointing to multi-organ involvement with implications for siRNA-based therapies in primary hyperoxaluria.
Journal of inherited metabolic diseaseThe possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders.
Hormones (Athens, Greece)[Primary hyperoxaluria: results of a retrospective survey of the diagnostic practices of nephrologists].
Nephrologie & therapeutiqueOpportunities in Primary and Enteric Hyperoxaluria at the Cross-Roads Between the Clinic and Laboratory.
Kidney international reportsBilateral Exudative Retinal Detachments due to Primary Hyperoxaluria in a Child.
Ophthalmology. RetinaA narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.
Nephrology (Carlton, Vic.)Importance of genetic study in primary hyperoxaluria type1. Case report.
Medicina clinicaPrimary hyperoxaluria type 3: from infancy to adulthood in a genetically unique cohort.
Pediatric nephrology (Berlin, Germany)Unveiling primary Hyperoxaluria type 1: a fortuitous discovery through bone marrow biopsy.
Oxford medical case reportsSecond transplantation after kidney graft loss in primary hyperoxaluria type 2: a pedigree study and mutation analysis.
Renal failure[Genetics in nephrology - any news?].
Deutsche medizinische Wochenschrift (1946)Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.
Kidney international reportsOxygen control in bioreactor drives high yield production of functional hiPSC-like hepatocytes for advanced liver disease modelling.
Scientific reportsLipid nanoparticle-mediated base-editing of the Hao1 gene achieves sustainable primary hyperoxaluria type 1 therapy in rats.
Science China. Life sciencesDiet-induced hyperoxaluria: A case based mini-review.
Clinical nephrology. Case studiesEfficient and safe in vivo treatment of primary hyperoxaluria type 1 via LNP-CRISPR-Cas9-mediated glycolate oxidase disruption.
Molecular therapy : the journal of the American Society of Gene TherapySimultaneous or sequential kidney-liver transplantation in primary hyperoxaluria.
Journal of nephrologyA patent review of lactate dehydrogenase inhibitors (2014-present).
Expert opinion on therapeutic patentsEfficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 30-month analysis of the phase 3 ILLUMINATE-B trial.
Frontiers in pediatricsTracking Selective Internalization and Intracellular Dynamics of Modified Chitosan Polymeric Micelles of Interest in Primary Hyperoxaluria Diseases.
ACS omegaCan endogenous ethylene glycol production occur in humans? A detailed investigation of adult monozygotic twin sisters.
Clinical toxicology (Philadelphia, Pa.)Infant primary hyperoxaluria type 1: A case report and literature review.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesLate-onset retinal oxalosis in primary hyperoxaluria type 2.
American journal of ophthalmology case reportsHot Hearts on Bone Scintigraphy Are Not All Amyloidosis: Hyperoxaluria-Associated Cardiomyopathy.
Clinical nuclear medicineLuminescence-based complementation assay to assess target engagement and cell permeability of glycolate oxidase (HAO1) inhibitors.
BiochimieMutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.
Kidney diseases (Basel, Switzerland)Nedosiran population pharmacokinetic and pharmacodynamic modelling and simulation to guide clinical development and dose selection in patients with primary hyperoxaluria type 1.
British journal of clinical pharmacology[Kidney involvement in rare hereditary diseases].
Terapevticheskii arkhivThe Evolving Role of Genetic Testing in Monogenic Kidney Stone Disease: Spotlight on Primary Hyperoxaluria.
The Journal of urologyUnveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria.
Pediatric nephrology (Berlin, Germany)Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1: Results from a Phase III Clinical Trial.
Kidney international reports[Clinical analysis of seven cases of primary hyperoxaluria type 1].
Zhonghua nei ke za zhiUnilateral Crystalline Ischemic Retinopathy Secondary to Primary Hyperoxaluria with Renal Failure and Oxalosis.
Klinische Monatsblatter fur Augenheilkunde4-hydroxy-2-oxoglutarate metabolism in a mouse model of Primary Hyperoxaluria Type 3.
Biochemistry and biophysics reportsPrimary hyperoxaluria: Long-term outcomes of isolated kidney versus simultaneous liver/kidney transplant.
Journal of pediatric gastroenterology and nutritionModified by the Innovative Drugs and Strategies-Pattern of Selected Indications for Pediatric Liver Transplantation.
Pediatric transplantationThe Yield of Genetic Testing in Management of Nephrolithiasis.
UrologyManagement of urinary stones: state of the art and future perspectives by experts in stone disease.
Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologicaRecurrent symptomatic urolithiasis in a patient with cystic fibrosis.
Pediatric nephrology (Berlin, Germany)Multiomics Assessment of the Gut Microbiome in Rare Hyperoxaluric Conditions.
Kidney international reportsUrinary Oxalate Excretion During Pregnancy in Primary Hyperoxaluria Type 1: A Report of 4 Cases.
Kidney medicineNavigating the Evolving Landscape of Primary Hyperoxaluria: Traditional Management Defied by the Rise of Novel Molecular Drugs.
BiomoleculesDiagnosis and management of primary hyperoxalurias: best practices.
Pediatric nephrology (Berlin, Germany)Lumasiran treatment in pediatric patients with PH1: real-world data within a compassionate use program in Italy.
Clinical kidney journalPrimary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay.
Clinical kidney journalClinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2.
UrolithiasisSimultaneous Liver Kidney Transplantation in a Primary Type 2 Hyperoxaluria With Corrected TOF and Severe Cardiomyopathy: A Case Report.
Journal of clinical and experimental hepatologyNedosiran Safety and Efficacy in PH1: Interim Analysis of PHYOX3.
Kidney international reportsExpanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.
Genetic testing and molecular biomarkersRecurrent disease after pediatric renal transplantation.
Pediatric transplantationA molecular journey on the pathogenesis of primary hyperoxaluria.
Current opinion in nephrology and hypertensionRestored glyoxylate metabolism after AGXT gene correction and direct reprogramming of primary hyperoxaluria type 1 fibroblasts.
iSciencePrevalence and characteristics of genetic disease in adult kidney stone formers.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationPathophysiology and management of enteric hyperoxaluria.
Clinics and research in hepatology and gastroenterologyHow We Treat Primary Hyperoxaluria Type 1.
Clinical journal of the American Society of Nephrology : CJASNBone health in children with primary hyperoxaluria type 1 following liver and kidney transplantation.
Frontiers in pediatrics2023 FDA TIDES (Peptides and Oligonucleotides) Harvest.
Pharmaceuticals (Basel, Switzerland)Gene editing: a near future for the treatment of genetic kidney diseases.
Kidney internationalRNA therapeutics for disorders of excretory system.
Progress in molecular biology and translational scienceRNA therapeutics for metabolic disorders.
Progress in molecular biology and translational scienceA plain abdominal x-ray may direct the diagnosis of primary hyperoxaluria.
Jornal brasileiro de nefrologia[Primary hyperoxaluria detected by bone marrow biopsy: A case report].
Annales de pathologiePrimary hyperoxaluria: Description of a new oral finding and review of literature.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryMulticenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1.
Kidney international reportsCase Report: effect of lumasiran treatment in a late preterm baby with antenatal diagnosis of primary hyperoxaluria type 1.
Frontiers in pediatricsComprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.
Nephrology (Carlton, Vic.)Histologic and Clinical Factors Associated with Kidney Outcomes in IgA Vasculitis Nephritis.
Clinical journal of the American Society of Nephrology : CJASNNephrocalcinosis can disappear in infants receiving early lumasiran therapy.
Pediatric nephrology (Berlin, Germany)Lumasiran: A Review in Primary Hyperoxaluria Type 1.
DrugsLate Presentation of Primary Oxalosis, Microcrystalline Arthropathy, and Tumoral Calcinosis: A Case Report and a Literature Review.
Current rheumatology reviewsInsights into the pathogenesis of primary hyperoxaluria type I from the structural dynamics of alanine:glyoxylate aminotransferase variants.
FEBS lettersGlyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.
Journal of inherited metabolic diseasePalmar papules as a manifestation of cutaneous oxalosis in primary hyperoxaluria: A case report and review of the literature.
Clinical case reportsEfficient and safe therapeutic use of paired Cas9-nickases for primary hyperoxaluria type 1.
EMBO molecular medicine[Primary hyperoxaluria type 1-a rare hereditary metabolic disorder as cause of livedo racemosa].
Dermatologie (Heidelberg, Germany)Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
BMC medical genomicsPediatric renal lithiasis in Spain: research, diagnostic and therapeutic challenges, and perspectives.
Frontiers in pediatricsIn vivo base editing rescues primary hyperoxaluria type 1 in rats.
Kidney internationalOphthalmic Sequelae of Late-Stage Primary Hyperoxaluria Type 1.
OphthalmologyThe Clinical and Pathological Characteristics of Patients with Oxalate Nephropathy.
Kidney360Nedosiran: First Approval.
DrugsCombined liver-kidney transplantation in pediatric patients.
Pediatric transplantation32-year-old diabetic patient with progressive vision loss and crystalline retinopathy.
Retinal cases & brief reportsIs Genotype the Major Outcome Parameter of Kidney Failure in Patients With Primary Hyperoxaluria Type 1?
Kidney international reportsA Rare Sparkle: A Case of Calcified Kidneys in a Young Infant With Renal Failure.
CureusYoung Male With End-Stage Renal Disease Due to Primary Hyperoxaluria Type 2: A Rare Presentation.
CureusClinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience.
Pediatric nephrology (Berlin, Germany)Primary Hyperoxaluria Screening and Monitoring: Quantitative Measurement of Plasma Oxalate by Gas Chromatography-Mass Spectrometry With High Sensitivity.
Annals of laboratory medicineQualitative assessment of the patient experience of primary hyperoxaluria type 1: an observational study.
BMC nephrologyHypercalcemia in an Infant with Primary Hyperoxaluria Type 2: A Novel Association.
Indian journal of nephrologyCase series and literature review of primary hyperoxaluria type 1 in Chinese patients.
UrolithiasisDeterminants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Kidney international reportsDistinguishing characteristics of pediatric patients with primary hyperoxaluria type 1 in PEDSnet.
Journal of pediatric urologyPrimary hyperoxaluria: a case series.
Journal of medical case reportsOxalate (dys)Metabolism: Person-to-Person Variability, Kidney and Cardiometabolic Toxicity.
GenesMultiplex gene editing reduces oxalate production in primary hyperoxaluria type 1.
Zoological researchGenotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.
Human mutationA clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationTargeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin.
Pharmacological reviewsLate Diagnosis of Primary Hyperoxaluria in an Adult Patient With End-Stage Renal Disease and Bicytopenia.
CureusIdiopathic Oxalate Nephropathy Leading to End-Stage Kidney Disease: A Case Report.
CureusSafety, Pharmacokinetics, and Exposure-Response Modeling of Nedosiran in Participants With Severe Chronic Kidney Disease.
Clinical pharmacology in drug developmentTherapeutic targeting of HYPDH/PRODH2 with N-propargylglycine offers a Hyperoxaluria treatment opportunity.
Biochimica et biophysica acta. Molecular basis of diseaseAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.
- N-Propargylglycine Restores Survival by Preventing Calcium Oxalate Stone Formation, Tubular Injury, and Kidney Dysfunction in a Lethal Mouse Model of Primary Hyperoxaluria Type 2.
- Oxalate Nephropathy in a Patient With Chronic Pancreatitis and Recent Surgery: A Clinical Conundrum.
- Genomic testing in pediatric urology: Implications for diagnosis and management.
- Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.
- Impact of Ser81 phosphorylation on alanine: glyoxylate aminotransferase associated with Primary hyperoxaluria type I.
- Novel AAV843 Vector-Mediated Gene Replacement Therapy Rescues Primary Hyperoxaluria Type I in Mice.
- Delayed Diagnosis of Primary Hyperoxaluria and Systemic Oxalosis in a Hemodialysis Patient: A Case Report and Literature Review.
- Urine microscopy revealing a metabolic disorder: a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:416(Orphanet)
- MONDO:0002474(MONDO)
- GARD:16530(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7243137(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
