É uma doença rara relacionada ao metabolismo do glioxilato, onde o oxalato se acumula no corpo. Isso acontece por causa da falta de uma enzima importante no fígado, chamada L-alanina: glioxilato aminotransferase (AGT), que atua nos peroxissomos (pequenas partes das células). A forma como a doença se manifesta (os sintomas) é bem variada, indo desde a formação ocasional de pedras nos rins com sintomas, até o acúmulo de cálcio nos rins (nefrocalcinose) e insuficiência renal grave, com a doença afetando outros órgãos do corpo.
Introdução
O que você precisa saber de cara
É uma doença rara relacionada ao metabolismo do glioxilato, onde o oxalato se acumula no corpo. Isso acontece por causa da falta de uma enzima importante no fígado, chamada L-alanina: glioxilato aminotransferase (AGT), que atua nos peroxissomos (pequenas partes das células). A forma como a doença se manifesta (os sintomas) é bem variada, indo desde a formação ocasional de pedras nos rins com sintomas, até o acúmulo de cálcio nos rins (nefrocalcinose) e insuficiência renal grave, com a doença afetando outros órgãos do corpo.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 21 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 45 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
1 gene identificado 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.
Medicamentos e terapias
Mecanismo: Hydroxyacid oxidase 1 mRNA RNAi inhibitor
Mecanismo: Hydroxyacid oxidase 1 mRNA RNAi inhibitor
Mecanismo: L-lactate dehydrogenase A chain mRNA RNAi inhibitor
Variantes genéticas (ClinVar)
497 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 — Deficiência de alanina-glioxilato aminotransferase (hiperoxalúria tipo 1)
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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
52 ensaios clínicos encontrados, 13 ativos.
Publicações mais relevantes
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.
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.
A Case of Successful Kidney Transplant-Alone in Primary Hyperoxaluria Type 1 Using Lumasiran.
Simultaneous liver-kidney transplantation (SLKT) has been the standard of care for patients with end-stage renal disease (ESRD) and primary hyperoxaluria type 1 (PH1). Lumasiran is a novel RNA interference (RNAi) therapy that targets glycolate oxidase and decreases oxalate production in the liver. Despite its availability, the use of RNAi with kidney transplant alone (KTA) for ESRD related to primary hyperoxaluria remains limited. We report a 39-year-old female with a history of KTA who presented with diarrhea and severe AKI. She rapidly progressed to anuria and allograft loss. Her kidney biopsy demonstrated calcium oxalate deposition. The patient was subsequently evaluated for a repeat kidney transplant. Given the morbidity associated with SLKT, RNAi therapy was pursued as an alternative. Initiation of Lumasiran reduced serum oxalate from 40 to 8 µmol/L, enabling successful KTA with immediate graft function. At 12 months post-transplant, renal function remained stable (creatinine 0.82 mg/dL, serum oxalate <1.5 µmol/L). This case highlights RNAi therapy as a promising strategy to facilitate KTA in patients with PH1 and ESRD, potentially reducing the need for SLKT and its associated morbidity.
The Dawn of Precision Medicine in Pediatric Nephrology: Lumasiran and the Era of siRNA Therapies for Primary Hyperoxaluria Type 1.
Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder that causes progressive renal failure, nephrolithiasis, and nephrocalcinosis in children. It is characterized by hepatic overproduction of oxalate. Conventional management, which involves combined liver-kidney transplantation, vitamin B6 supplementation, and intense hydration, does not address the underlying metabolic defect for most patients and it generally provides only supportive care. The first approved disease-modifying treatment for pediatric PH1 is Lumasiran, a small interfering RNA (siRNA) therapeutic. By specifically inhibiting the hepatic glycolate oxidase mRNA, Lumasiran lowers the production of oxalate at its origin. Along with fewer kidney stone events and stabilization of nephrocalcinosis, clinical trials (ILLUMINATE-A/B/C) showed significant decreases in urinary oxalate excretion. The most frequently reported adverse event is mild injection-site reactions, which are generally well tolerated. The molecular mechanism, pharmacokinetics, and clinical effectiveness of Lumasiran in children with PH1 are compiled in this review. We go over possible long-term safety concerns, the impact of early intervention on renal outcomes, and the function of siRNA therapies in pediatric precision medicine. Furthermore, we highlight Lumasiran's importance as a model for targeted treatment in uncommon pediatric kidney diseases by considering it in the larger context of RNAi-based therapies. A paradigm shift in pediatric nephrology is signaled by Lumasiran, which changes the therapeutic approach from supportive care to precision, targeted medicine. Further research and empirical data will clarify its long-term advantages, the best ways to treat it, and the possible use of siRNA technologies for other genetic renal disorders.
Hyperoxaluria by the AGXT gene: a case report.
This report details a case of AGXT gene mutation in a male patient, 9 years 6 months old, Portuguese ethnicity, with history of nephrocalcinosis and recurrent nephrolithiasis in childhood, which progressed to chronic kidney disease. It illustrates the diagnostic and therapeutic implications of identifying an AGXT c.33dup (p.Lys12Glnfs156) variant in a patient with primary hyperoxaluria type 1. Recognizing nonresponsive genotypes prevents unnecessary prolonged treatment and allows earlier evaluation for advanced therapies such as liver transplantation or RNA interference therapy. A nine-year-old boy, white, with consanguineous parents and family history of early-onset end-stage renal disease, presented with recurrent nephrolithiasis and bilateral nephrocalcinosis since age 6 year. Initial evaluation revealed hyperoxaluria and elevated serum oxalate, confirming clinical suspicion of primary hyperoxaluria type 1 without pyridoxine response. At age 14 years, he developed acute renal failure due to obstructive urolithiasis and Acinetobacter baumannii infection, requiring ureteroscopic lithotripsy and intravenous antibiotics. Partial renal recovery followed, with stable function (estimated glomerular filtration rate ≈ 40 mL/min/1.73 m2) and no recurrence during longitudinal follow-up. At age 16 years, homozygosity for the primary hyperoxaluria type 1 gene, variant c.33dup (p.Lys12Glnfs*156), was identified, confirming primary hyperoxaluria type 1. Family screening revealed two asymptomatic siblings (ages 7 and 9 years) who were heterozygous carriers of the same variant. Lumasiran therapy was initiated for this patient as a disease-modifying treatment to reduce oxalate production and stabilize renal function. Primary hyperoxaluria type 1 remains a diagnostic and therapeutic challenge, particularly in resource-limited settings. Identification of specific AGXT variants offers key prognostic and therapeutic insights. Early genetic testing in children with unexplained nephrocalcinosis or recurrent nephrolithiasis may be cost-effective, enabling timely diagnosis, targeted treatment, and family screening while reducing the long-term burden and healthcare costs associated with end-stage renal disease.
Publicações recentes
Novel AAV843 Vector-Mediated Gene Replacement Therapy Rescues Primary Hyperoxaluria Type I in Mice.
Genomic testing in pediatric urology: Implications for diagnosis and management.
A Case of Successful Kidney Transplant-Alone in Primary Hyperoxaluria Type 1 Using Lumasiran.
The Dawn of Precision Medicine in Pediatric Nephrology: Lumasiran and the Era of siRNA Therapies for Primary Hyperoxaluria Type 1.
Hyperoxaluria by the AGXT gene: a case report.
📚 EuropePMC375 artigos no totalmostrando 196
Genomic testing in pediatric urology: Implications for diagnosis and management.
Journal of pediatric urologyA 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 medicineHyperoxaluria 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 AssociationTargeting 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 medicineSurgical Management of Pediatric Primary Hyperoxaluria Type 1: An Eight-Patient Case Series in the Pre-siRNA Era.
Pediatric transplantationNatural 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 diseasesRNA 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 AssociationUrine 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 1: An Unexpected Diagnosis after Kidney Transplantation.
Kidney & blood pressure researchLiver Transplantation in Childhood: A 2-Year Single Center Experience.
Transplantation proceedingsFunctional 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 reportsPopulation 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 reportsPlasma 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 dialysis[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 nephrologyPhenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
GenesTreatment 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 reportsHidden 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 chemistryEfficacy 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 FoundationFine-tuning circulating oxalate levels to improve transplant strategies in primary hyperoxaluria: what is the ideal threshold in pediatrics?
Nephrologie & therapeutiqueConcomitant Treatment With Lumasiran and Nedosiran in a Child With Primary Hyperoxaluria Type 1.
Kidney international reportsModified J-shaped incision for combined pediatric liver-kidney transplants (CLKT): Focusing on the urological outcomes.
Journal of pediatric urologyNedosiran in pediatric patients with PH1 and relatively preserved kidney function, a phase 2 study (PHYOX8).
Pediatric nephrology (Berlin, Germany)Variable treatment response to lumasiran in pediatric patients with primary hyperoxaluria type 1.
Pediatric nephrology (Berlin, Germany)Biallelic 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 diseasesEffect 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 diseaseUnveiling primary Hyperoxaluria type 1: a fortuitous discovery through bone marrow biopsy.
Oxford medical case reports[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 sciencesEfficient 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 nephrologyEfficacy 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 pediatricsInfant 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 sciencesNedosiran 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 pharmacologyThe 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 zhiModified by the Innovative Drugs and Strategies-Pattern of Selected Indications for Pediatric Liver Transplantation.
Pediatric transplantationRecurrent symptomatic urolithiasis in a patient with cystic fibrosis.
Pediatric nephrology (Berlin, Germany)Urinary Oxalate Excretion During Pregnancy in Primary Hyperoxaluria Type 1: A Report of 4 Cases.
Kidney medicineDiagnosis 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 journalNedosiran 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 biomarkersRestored glyoxylate metabolism after AGXT gene correction and direct reprogramming of primary hyperoxaluria type 1 fibroblasts.
iScienceHow 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 scienceMulticenter 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.)Nephrocalcinosis can disappear in infants receiving early lumasiran therapy.
Pediatric nephrology (Berlin, Germany)Lumasiran: A Review in Primary Hyperoxaluria Type 1.
DrugsGlyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.
Journal of inherited metabolic diseaseEfficient 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)In vivo base editing rescues primary hyperoxaluria type 1 in rats.
Kidney internationalOphthalmic Sequelae of Late-Stage Primary Hyperoxaluria Type 1.
OphthalmologyCombined liver-kidney transplantation in pediatric patients.
Pediatric transplantationIs 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.
CureusQualitative assessment of the patient experience of primary hyperoxaluria type 1: an observational study.
BMC 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 urologyMultiplex gene editing reduces oxalate production in primary hyperoxaluria type 1.
Zoological researchA 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 AssociationPrimary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center.
International journal of nephrologyA Case Report of Kidney-Only Transplantation in Primary Hyperoxaluria Type 1: A Novel Approach with the Use of Nedosiran.
Case reports in nephrology and dialysisNatural history of urine and plasma oxalate in children with primary hyperoxaluria type 1.
Pediatric nephrology (Berlin, Germany)End Point Considerations for Clinical Trials in Enteric Hyperoxaluria.
Clinical journal of the American Society of Nephrology : CJASNIs withdrawal of nocturnal hyperhydration possible in children with primary hyperoxaluria treated with RNAi?
Journal of nephrologyQuantification of oxalate by novel LC-MS/MS: assay development, validation and application in lumasiran clinical trials.
BioanalysisUnusual cause of cerebral calcifications in an 8-year-old girl.
Clinical case reportsSuccessful pregnancy in a hemodialysis patient with primary hyperoxaluria type 1.
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis TherapyLong-term outcome after combined or sequential liver and kidney transplantation in children with infantile and juvenile primary hyperoxaluria type 1.
Frontiers in pediatricsSimple, fast and inexpensive quantification of glycolate in the urine of patients with primary hyperoxaluria type 1.
UrolithiasisPrimary hyperoxaluria type 1 in children: clinical and laboratory manifestations and outcome.
Pediatric nephrology (Berlin, Germany)Reduced Electroretinogram Responses in Morphologically Normal Retina in Patients with Primary Hyperoxaluria Type 1.
Ophthalmology sciencePlasma oxalate and glycolate concentrations in dialysis patients with and without primary hyperoxaluria type 1.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationEffect of liver transplantation with primary hyperoxaluria type 1: Five case reports and review of literature.
World journal of clinical casesGlycolate oxidase inhibition by lumasiran varies between patients with primary hyperoxaluria type 1.
Kidney internationalEstimating health state utilities in primary hyperoxaluria type 1: a valuation study.
Journal of medical economicsLumasiran: a potential therapy for the management of primary hyperoxaluria type 1? An editorial.
International journal of surgery (London, England)Dialysis in Israeli Children between 1990 and 2020: Trends and International Comparisons.
Clinical journal of the American Society of Nephrology : CJASNLumasiran for primary hyperoxaluria type 1: What we have learned?
Frontiers in pediatricsStiripentol and Lumasiran as a Rescue Therapy for Oxalate Nephropathy Recurrence After Kidney Transplantation in an Adult Patient With Primary Hyperoxaluria Type 1.
American journal of kidney diseases : the official journal of the National Kidney FoundationBiochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.
Biochemical and biophysical research communicationsMultimodal Imaging of Severe Oxalate Retinopathy in a 20-Month-Old Boy.
Ophthalmic surgery, lasers & imaging retinaESKD in a Young Patient with Chronic Bilateral Flank Pain.
Kidney360Long-term outcomes after pre-emptive liver transplantation in primary hyperoxaluria type 1.
Pediatric nephrology (Berlin, Germany)Searching glycolate oxidase inhibitors based on QSAR, molecular docking, and molecular dynamic simulation approaches.
Scientific reportsCutaneous Oxalosis Due to Primary Hyperoxaluria.
The American Journal of dermatopathologyIsolated kidney transplantation under lumasiran therapy in primary hyperoxaluria type 1: a report of five cases.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationHaemolytic uraemic syndrome.
Lancet (London, England)Small interfering RNA: Discovery, pharmacology and clinical development-An introductory review.
British journal of pharmacologyMonogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center.
La Tunisie medicaleA case report of invasive infantile primary hyperoxaluria type 1 and literature review.
CEN case reportsPHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2.
Kidney internationalTherapeutic siRNA: State-of-the-Art and Future Perspectives.
BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapyLessons for the clinical nephrologist: lumasiran as the future cornerstone treatment for patients with primary hyperoxaluria type 1?
Journal of nephrologyPreemptive liver transplant in two patients with primary hyperoxaluria type 1: Clinical significance of nephrolithiasis and nephrocalcinosis.
Pediatric transplantationCRISPR/Cas9-mediated knock-out of AGXT1 in HepG2 cells as a new in vitro model of Primary Hyperoxaluria Type 1.
Biochimie[Bilateral nephrocalcinosis: primary hyperoxaluria involved].
Revue medicale de LiegeCorrigendum: Primary Hyperoxaluria Type 1 (PH1) Presenting with End-Stage Kidney Disease and Cutaneous Manifestations in Adulthood: A Case Report.
Canadian journal of kidney health and diseaseEfficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 12-month analysis of the phase 3 ILLUMINATE-B trial.
Pediatric nephrology (Berlin, Germany)The appearance of oxalate crystals in a kidney biopsy is no proof of post-transplant oxalate nephropathy in primary hyperoxaluria type 1.
Kidney internationalLumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial.
American journal of kidney diseases : the official journal of the National Kidney FoundationIdentification of Human Alanine-Glyoxylate Aminotransferase Ligands as Pharmacological Chaperones for Variants Associated with Primary Hyperoxaluria Type 1.
Journal of medicinal chemistryImproved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Kidney international reportsImproving Treatment Options for Primary Hyperoxaluria.
DrugsLumasiran in the Management of Patients with Primary Hyperoxaluria Type 1: From Bench to Bedside.
International journal of nephrology and renovascular diseaseProgress with RNA Interference for the Treatment of Primary Hyperoxaluria.
BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapyEfficient and Fast Generation of Relevant Disease Mouse Models by In Vitro and In Vivo Gene Editing of Zygotes.
The CRISPR journalPrimary hyperoxaluria: the pediatric nephrologist's point of view.
Clinical kidney journalPrimary hyperoxaluria type 1: urologic and therapeutic management.
Clinical kidney journalPrimary hyperoxaluria type 1 in developing countries: novel challenges in a new therapeutic era.
Clinical kidney journalPrimary hyperoxaluria type 1: time for prime time?
Clinical kidney journalTreatment of primary hyperoxaluria type 1.
Clinical kidney journalPrimary hyperoxaluria type 1: pathophysiology and genetics.
Clinical kidney journalPrimary hyperoxaluria type 1: novel therapies at a glance.
Clinical kidney journalMolecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis.
CureusHemodialysis Catheter Breakage in an Infant.
The journal of vascular accessEstimated GFR Slope Across CKD Stages in Primary Hyperoxaluria Type 1.
American journal of kidney diseases : the official journal of the National Kidney FoundationNew therapeutics for primary hyperoxaluria type 1.
Current opinion in nephrology and hypertensionRandomized Clinical Trial on the Long-Term Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1.
Kidney international reportsInfantile Primary Hyperoxaluria Type 1 Treated With Lumasiran in Twin Males.
CureusLong-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry.
Kidney international reportsNew Insights Regarding Organ Transplantation in Primary Hyperoxaluria Type 1.
Kidney international reportsCase Report: Sustained Efficacy of Lumasiran at 18 Months in Primary Hyperoxaluria Type 1.
Frontiers in pediatricsCatabolism of Hydroxyproline in Vertebrates: Physiology, Evolution, Genetic Diseases and New siRNA Approach for Treatment.
International journal of molecular sciencesThe effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants.
Pediatric nephrology (Berlin, Germany)Early post-transplant recurrence of oxalate nephropathy in a patient with primary hyperoxaluria type 1, despite pretransplant lumasiran therapy.
Kidney internationalBone marrow aspirate: a diagnostic tool for primary hyperoxaluria type 1.
La Tunisie medicalePhase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children.
Genetics in medicine : official journal of the American College of Medical GeneticsPrimary Hyperoxaluria Type 1 (PH1) Presenting With End-Stage Kidney Disease and Cutaneous Manifestations in Adulthood: A Case Report.
Canadian journal of kidney health and diseasePrimary hyperoxaluria type 1: report of the worldwide largest family.
International urology and nephrologyLumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1. Reply.
The New England journal of medicineLumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.
The New England journal of medicine18-Fluorodeoxyglucose positron emission computed tomography for systemic oxalosis in primary hyperoxaluria type 1.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant SurgeonsEndogenous Oxalate Production in Primary Hyperoxaluria Type 1 Patients.
Journal of the American Society of Nephrology : JASNPrimary Hyperoxaluria Type 1 Disease Manifestations and Healthcare Utilization: A Multi-Country, Online, Chart Review Study.
Frontiers in medicineTreatment with stiripentol in a patient with primary hyperoxaluria type 1: lesson for the clinical nephrologist.
Journal of nephrologyLanthanum carbonate to control plasma and urinary oxalate level in type 1 primary hyperoxaluria?
IJU case reportsPrimary hyperoxaluria diagnosed after kidney transplant: A review of the literature and case report of aggressive renal replacement therapy and lumasiran to prevent allograft loss.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant SurgeonsOxalic Cardiomyopathy: Could it Influence Treatment Plans in Patients With Primary Hyperoxaluria Type 1?
Journal of the American College of CardiologyForty Years of Oxalobacter formigenes, a Gutsy Oxalate-Degrading Specialist.
Applied and environmental microbiologyNovel vectors and approaches for gene therapy in liver diseases.
JHEP reports : innovation in hepatologyA new era of treatment for primary hyperoxaluria type 1.
Nature reviews. NephrologyMolecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
BMC medical genomicsPhase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1: A Placebo-Controlled Randomized Clinical Trial.
Clinical journal of the American Society of Nephrology : CJASNPrimary hyperoxaluria type 1 in children: Clinical classification, renal replacement therapy, and outcome in a single centre experience.
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis TherapyNatural History of Clinical, Laboratory, and Echocardiographic Parameters of a Primary Hyperoxaluria Cohort on Long Term Hemodialysis.
Frontiers in medicine[Management of Primary Hyperoxaluria Type 1 in Italy].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaTransplantation outcomes in patients with primary hyperoxaluria: a systematic review.
Pediatric nephrology (Berlin, Germany)Liver Transplantation in Primary Hyperoxaluria Type 1: We Have to Find an Alternative!
TransplantationCombined liver kidney transplantation for primary hyperoxaluria type 1: Will there still be a future? Current transplantation strategies and monocentric experience.
Pediatric transplantationChoroidal neovascularization in a child with infantile primary hyperoxaluria treated with bevacizumab.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusClinical analysis of 13 children with primary hyperoxaluria type 1.
UrolithiasisCalciphylaxis or vascular oxalosis?
Clinical kidney journalAn Infant Presenting with Seizures and Renal Failure.
Clinical chemistryNew Drugs for Rare Disorders.
The American journal of nursingGeneration and characterization of a novel rat model of primary hyperoxaluria type 1 with a nonsense mutation in alanine-glyoxylate aminotransferase gene.
American journal of physiology. Renal physiologyNovel mutations in response to vitamin B6 in primary hyperoxaluria type 1 after only kidney transplantation: a case report.
Translational andrology and urologyLiver transplant as a curative treatment in a pediatric patient with classic homocystinuria: A case report.
American journal of medical genetics. Part ALumasiran: First Approval.
DrugsKnockdown of lactate dehydrogenase by adeno-associated virus-delivered CRISPR/Cas9 system alleviates primary hyperoxaluria type 1.
Clinical and translational medicineAssociações
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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.
- Genomic testing in pediatric urology: Implications for diagnosis and management.
- A Case of Successful Kidney Transplant-Alone in Primary Hyperoxaluria Type 1 Using Lumasiran.
- The Dawn of Precision Medicine in Pediatric Nephrology: Lumasiran and the Era of siRNA Therapies for Primary Hyperoxaluria Type 1.
- Hyperoxaluria by the AGXT gene: a case report.
- Novel AAV843 Vector-Mediated Gene Replacement Therapy Rescues Primary Hyperoxaluria Type I in Mice.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:93598(Orphanet)
- OMIM OMIM:259900(OMIM)
- MONDO:0009823(MONDO)
- GARD:2835(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q54320724(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
