Raras
Buscar doenças, sintomas, genes...
Síndrome de hiperuricemia – hipertensão pulmonar – falência renal – alcalose
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Furosemida, vendida sob o nome comercial Lasix, entre outros, é um medicamento diurético de alça usado para tratar edema devido à insuficiência cardíaca, cirrose hepática ou doença renal. A furosemida também pode ser usada para o tratamento da pressão alta. Pode ser administrada por via intravenosa ou oral. Quando administrada por via intravenosa, a furosemida geralmente faz efeito em cinco minutos; quando tomada por via oral, geralmente é metabolizada em uma hora.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
4
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: E88.8
Você se identifica com essa condição?
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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

🩸
Sangue
4 sintomas
🫘
Rins
4 sintomas
📏
Crescimento
3 sintomas
🫁
Pulmão
3 sintomas
🧠
Neurológico
2 sintomas
💪
Músculos
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

100%prev.
Déficit de crescimento
Frequência: 3/3
100%prev.
Hipomagnesemia
Frequência: 3/3
100%prev.
Rins hiperecogênicos
Frequência: 2/2
100%prev.
Nascimento prematuro
Frequência: 3/3
100%prev.
Aumento da concentração circulante de lactato
Frequência: 3/3
100%prev.
Atraso global do desenvolvimento
Frequência: 3/3
27sintomas
Muito frequente (16)
Frequente (6)
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 27 características clínicas mais associadas, ordenadas por frequência.

Déficit de crescimentoFailure to thrive
Frequência: 3/3100%
HipomagnesemiaHypomagnesemia
Frequência: 3/3100%
Rins hiperecogênicosHyperechogenic kidneys
Frequência: 2/2100%
Nascimento prematuroPremature birth
Frequência: 3/3100%
Aumento da concentração circulante de lactatoIncreased circulating lactate concentration
Frequência: 3/3100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026136 papers
Linha do tempo
2026Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

SARS2Serine--tRNA ligase, mitochondrialDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec)

LOCALIZAÇÃO

Mitochondrion matrix

VIAS BIOLÓGICAS (1)
Mitochondrial tRNA aminoacylation
MECANISMO DE DOENÇA

Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome

A multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely.

EXPRESSÃO TECIDUAL(Ubíquo)
Tireoide
38.9 TPM
Próstata
28.9 TPM
Linfócitos
28.9 TPM
Glândula adrenal
28.6 TPM
Testículo
28.6 TPM
OUTRAS DOENÇAS (1)
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
HGNC:17697UniProt:Q9NP81

Variantes genéticas (ClinVar)

57 variantes patogênicas registradas no ClinVar.

🧬 SARS2: NM_017827.4(SARS2):c.1199C>A (p.Ala400Asp) ()
🧬 SARS2: NM_017827.4(SARS2):c.303G>C (p.Glu101Asp) ()
🧬 SARS2: NM_017827.4(SARS2):c.1084G>A (p.Glu362Lys) ()
🧬 SARS2: NM_017827.4(SARS2):c.560G>A (p.Arg187Gln) ()
🧬 SARS2: NM_017827.4(SARS2):c.189C>G (p.Phe63Leu) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de hiperuricemia – hipertensão pulmonar – falência renal – alcalose

🗺️

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

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.

Frontiers in pediatrics2026

Post-Streptococcal glomerulonephritis (PSGN) most commonly follows streptococcal infections and presents with classic features such as hematuria, proteinuria, hypertension, and transient renal dysfunction. While renal-limited disease is typical, extrarenal manifestations-particularly serosal involvement-are exceptionally rare in children. We report a rare case of an adolescent who presented with nephritic syndrome marked by hypertension, gross hematuria, proteinuria, and notably, concurrent pleural and pericardial effusions. Laboratory evaluation revealed low serum complement levels (C3 and C4), consistent with immune complex-mediated glomerulonephritis. Extensive infectious and autoimmune workups were unremarkable. The patient was managed conservatively with antihypertensives and diuretics, with complete resolution of symptoms and normalization of renal function and complement levels within four weeks. To our knowledge, serosal involvement (pleural and pericardial effusions) at initial presentation in pediatric PSGN remains extremely rare, with very few documented cases in the literature. This report contributes valuable clinical insight, emphasizing that PSGN can occasionally mimic systemic inflammatory or autoimmune conditions. Early identification and conservative management can prevent overtreatment and improve outcomes. This case underscores an unusual presentation of PSGN with serosal involvement-a manifestation reported only sporadically in literature. Recognition of such rare systemic features is crucial to avoid diagnostic delays or unnecessary immunosuppression. Supportive care alone led to favorable outcomes, reinforcing the self-limited nature of PSGN even in atypical presentations. It serves as a valuable reminder that atypical PSGN can present with multi-system inflammation, and a precise diagnostic approach integrating serology and clinical course is essential to avoid unnecessary intervention.

#2

High-grade follicular B-cell lymphoma-associated C3 rapidly progressive glomerulonephritis: a rare association.

BMJ case reports2026 Mar 16

Rapidly progressive glomerulonephritis (GN) in the context of B-cell lymphoma is rare, with most cases involving diffuse-large B-cell lymphoma or marginal zone lymphoma. Kidney biopsies are infrequently performed in this population, further limiting diagnostic clarity. Here, we report a case of newly diagnosed follicular large B-cell lymphoma (FLBCL) presenting with a nephritic syndrome, characterised by haematuria, hypertension and heavy proteinuria, caused by C3 crescentic GN, requiring dialysis. The patient was treated with polatuzumab, bendamustine and rituximab, which was well tolerated. Renal function gradually improved, leading to dialysis discontinuation, coinciding with lymphoma remission. This case underscores the atypical presentation of FLBCL, including renal dysfunction as an early manifestation, and the importance of prompt diagnosis and targeted therapy.

#3

Melatonin as a Redox Modulator in Developmental Programming: Implications for Cardiovascular-Kidney-Metabolic Risk.

International journal of molecular sciences2026 Mar 04

Melatonin, a multifunctional hormone with antioxidant, anti-inflammatory, and chronobiotic effects, is essential for a healthy pregnancy and fetal development. In the context of the Developmental Origins of Health and Disease (DOHaD), excessive oxidative stress acts as a key driver of maladaptive fetal programming, increasing lifelong susceptibility to cardiovascular, kidney, and metabolic (CKM) disorders. Importantly, most evidence derives from rodent models, and the protective effects of maternal melatonin supplementation appear partial and model-dependent rather than universal. Experimental studies indicate that maternal melatonin supplementation can prevent programmed hypertension, renal dysfunction, and metabolic derangements by restoring redox homeostasis, influencing epigenetic and nutrient-sensing pathways, and modulating the gut microbiome. Early clinical investigations in pregnancies complicated by preeclampsia or intrauterine growth restriction suggest that melatonin is well tolerated, improves placental function, and benefits neonatal outcomes. However, optimal dosing and long-term safety for offspring remain to be established. This review synthesizes mechanistic and translational evidence, framing melatonin as an integrative biological mediator with potential to guide preventive strategies and mitigate the intergenerational risk of CKM syndrome.

#4

Management of pediatric patients with moyamoya arteriopathy and middle aortic syndrome: a retrospective single-institution case series.

Journal of neurosurgery. Pediatrics2026 Mar 13

Moyamoya arteriopathy and middle aortic syndrome (MAS) are each rare, often progressive vascular diseases; their comorbid intersection increases their complexity because of the independent and contradictory demands on blood pressure. The management of pediatric patients with these comorbid conditions requires multidisciplinary consultation given the high risk involved. In the current study, the authors aim to describe the clinical and surgical history of pediatric patients with comorbid moyamoya arteriopathy and MAS and describe a multidisciplinary approach to care for these patients. This study is a retrospective review of the clinical and radiological records of patients at Boston Children's Hospital who were treated with cerebral revascularization surgery for comorbid moyamoya arteriopathy and MAS from January 2004 to January 2024. Analysis of collected perioperative, surgical, inpatient, and follow-up data was conducted using R version 4.4.2 (R Foundation for Statistical Computing). Eleven patients, 5 male (45.5%), were included in the study. At presentation, 9 patients (81.8%) had symptoms from brain ischemia. Nine patients were on antihypertensive medications (median 2, IQR 1-2). All patients underwent surgery for moyamoya arteriopathy, and 6 patients (54.5%) also underwent surgical treatment for MAS. After moyamoya surgery, 4 patients (36.4%) required an intensified blood pressure regimen to achieve the same goal, whereas 3 patients (27.3%) had a reduced need for blood pressure medications. Four (66.7%) of the 6 patients who underwent MAS surgical treatment did so after moyamoya treatment. Perioperative stroke occurred after renal stent angioplasty before moyamoya surgery but also after aortic bypass following moyamoya surgery. Managing comorbid moyamoya arteriopathy and MAS is challenging, as patients have a higher risk of ischemic perioperative complications. These patients may have hypertension secondary to their aortic disease, and treating the aortic disease may correct the hypertension but with possible new relative hypotension and relative cerebral hypoperfusion. Consequently, moyamoya revascularization prior to aortic repair may be a strategy to reduce the risk of stroke.

#5

The REDD1-NF-κB-miRNAs-eNOS/SIRT1 axis mediates obesity-induced endothelial cell senescence and hypertension.

Nature communications2026 Mar 12

Vascular dysfunction, including endothelial cell (EC) senescence and hypertension, is a hallmark of metabolic syndrome, yet its underlying mechanisms remain unclear. Here, we show that metabolic stress upregulates regulated in development and DNA damage response 1 (REDD1), driving vascular dysfunction. Overexpression of REDD1, but not the REDD1KK219/220AA mutant, which cannot activate atypical NF-κB, promotes EC senescence and hypertension through NF-κB-dependent induction of miR-155-5p and miR-214-3p. These miRNAs suppress endothelial nitric oxide synthase (eNOS) and SIRT1 expression in human and mouse ECs. In obese male mice, REDD1 and miR-214-3p are upregulated, whereas eNOS and SIRT1 are downregulated, contributing to EC senescence, renal dysfunction, and hypertension. This phenotype is alleviated in mice lacking Redd1, EC-specific Redd1, or miR-214-3p, and in mice expressing Redd1KK219/220AA, but only partially by IKKβ inhibition. These findings identify a REDD1-atypical NF-κB-miRNAs-eNOS/SIRT1 axis as a critical mediator of obesity-induced vascular dysfunction and a promising therapeutic target.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.

Frontiers in pediatrics
2025

A PROSPECTIVE, OBSERVATIONAL STUDY ON ETIOLOGICAL SPECTRUM OF END STAGE KIDNEY DISEASE IN NORTH INDIA: DOMINANCE OF DIABETIC KIDNEY DISEASE AND EMERGING TRENDS.

Annals of Ibadan postgraduate medicine
2026

2026 Latin American consensus for the management of patients with hypertension and cardio-renal and metabolic disturbances: endorsed by the Latin American Society of Hypertension, the Iberoamerican Hypertension League, and the World Hypertension League.

Journal of hypertension
2026

Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.

American journal of physiology. Renal physiology
2026

Case Report: Spontaneous Tumor Lysis Syndrome in a Patient With Cholangiocarcinoma.

Journal of investigative medicine high impact case reports
2026

Continuous monitoring of intra-abdominal pressure: cumulative pressure exposure predicts early acute kidney injury in animal model.

World journal of emergency surgery : WJES
2026

Hemoglobinuria-associated acute kidney injury in hemolytic uremic syndrome without renal thrombotic microangiopathy.

BMC nephrology
2026

Relapse of Membranous Nephropathy Following Adrenalectomy for Cushing Syndrome: A Case Report.

Internal medicine (Tokyo, Japan)
2026

Severe renovascular hypertension in an infant with a SMAD3 gene variant.

Pediatric nephrology (Berlin, Germany)
2026

Maternal Morbidity and Complications in Hemolysis, Elevated Liver Enzymes, and Low Platelet Count (HELLP) Syndrome: A Retrospective Case Series.

Cureus
2026

High-grade follicular B-cell lymphoma-associated C3 rapidly progressive glomerulonephritis: a rare association.

BMJ case reports
2026

Cross-sectional study exploring the characteristics of hospitalized patients admitted for acute pancreatitis who develop abdominal compartment syndrome in US hospitals.

Proceedings (Baylor University. Medical Center)
2026

Rituximab-Associated Posterior Reversible Encephalopathy Syndrome in Severe Hydralazine-Induced Antineutrophil Cytoplasmic Antibody Vasculitis: An Unexpected Complication.

Cureus
2026

Non-Extremity Thrombosis Sequelae in Children: Screening, Diagnosis, and Management.

Journal of thrombosis and haemostasis : JTH
2026

Bardet-Biedl syndrome in two sibling pairs: a case series.

Journal of medical case reports
2026

Selenoprotein P Deficiency Is Associated with Early Signs of Kidney Disease and Hospitalization Risk in Heart Failure.

Nutrients
2026

Melatonin as a Redox Modulator in Developmental Programming: Implications for Cardiovascular-Kidney-Metabolic Risk.

International journal of molecular sciences
2026

Posterior Reversible Encephalopathy Syndrome in Peritoneal Dialysis Patients: A Four-Case Series.

Journal of clinical medicine
2026

Management of pediatric patients with moyamoya arteriopathy and middle aortic syndrome: a retrospective single-institution case series.

Journal of neurosurgery. Pediatrics
2026

The Urgent Need for Cardiometabolic Health Training: A Call to Action.

Cureus
2026

Efficacy of cilastatin sodium in a translational large animal crush syndrome model.

Communications medicine
2026

The REDD1-NF-κB-miRNAs-eNOS/SIRT1 axis mediates obesity-induced endothelial cell senescence and hypertension.

Nature communications
2026

Incidence of intra-abdominal hypertension after liver transplantation with temporary portocaval shunt - A prospective cohort.

Clinics (Sao Paulo, Brazil)
2026

Chronic Inflammation as an Overlooked Link Between Cardiovascular and Kidney Disease: A Focus on Interleukin-6 and C-Reactive Protein.

Clinical journal of the American Society of Nephrology : CJASN
2026

Linezolid-induced Posterior Reversible Encephalopathy Syndrome: A Case Report and Review of the Literature.

Clinical neuropharmacology
2026

Renal artery stenosis in heart failure: the overlooked cardiorenal culprit?

European journal of heart failure
2026

Pulmonary Artery Denervation for Refractory Sjögren's Syndrome-Associated Pulmonary Arterial Hypertension: A Case Report of Combined Hemodynamic and Renal Recovery.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2026

Heart failure associated with renal artery stenosis and Pickering syndrome: the critical role of endovascular revascularization: a case series and meta-analysis.

Clinical hypertension
2026

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report.

SAGE open medical case reports
2026

Peripheral arterial lesions detected by vascular ultrasound and their association with aortic events in heritable thoracic aortic diseases.

International journal of cardiology. Heart &amp; vasculature
2026

Current Trends and Future Perspectives of Bradycardia, Renal Failure, Atrioventricular Nodal Blockade, Shock, and Hyperkalemia (BRASH) Syndrome: A Narrative Review.

Cureus
2026

Abdominal Compartment Syndrome Following Massive Transfusion in Upper Gastrointestinal Bleeding: A Case Report.

Cureus
2026

A Case of Posterior Reversible Encephalopathy Syndrome With Single-Agent Weekly Paclitaxel.

Cureus
2026

Cardiac Complications in Systemic Lupus Erythematosus: A Systematic Review of Diagnostic and Prognostic Gaps.

Cureus
2026

Successful prosthetic graft replacement for middle aortic syndrome in a 9-year-old child.

Cardiology in the young
2026

Decoding lung-kidney interactions in sepsis: an integrated view of molecular mechanisms, pathophysiology, and therapeutic interventions.

Frontiers in immunology
2026

[Screening for albuminuria to assess cardiovascular risk].

Revue medicale suisse
2026

Daratumumab for Treatment of Refractory Podocytopathy: A Case Report.

Kidney medicine
2026

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Clinical nephrology. Case studies
2026

Dual carrier status for HUPRA (hyperuricemia, pulmonary hypertension, renal failure, and alkalosis) syndrome and Wilson disease in a young dialysis patient: clinical and genetic counseling implications.

Clinical transplantation and research
2026

Renal Venous Hypertension and Kidney Dysfunction: Implications for Clinical Practice.

Cardiology in review
2026

Posterior Reversible Encephalopathy Syndrome Caused by Renovascular Hypertension in a Solitary Functioning Kidney: Successful Treatment With Renal Artery Stenting.

Cureus
2026

Sex differences in potassium regulation: evidence, molecular mechanisms and clinical implications.

Biology of sex differences
2026

A rare case of ectopic cushing's syndrome caused by renal neuroendocrine tumor.

Journal of diabetes and metabolic disorders
2026

[When kidney disease is genetic: clues for the primary care physician].

Revue medicale suisse
2026

Current Appraisal and Gaps in Knowledge in Cardio-Kidney Metabolic Syndrome Definition.

International journal of molecular sciences
2026

Exceptional Response to a Single Dose of Pembrolizumab as Salvage Therapy for Metastatic Adrenocortical Carcinoma.

JCEM case reports
2026

Acute Neurological and Respiratory Complications Induced by Wasp Stings: A Case Report.

The American journal of case reports
2026

Renal Denervation Improves Hepatic Steatosis in Hypertensive Patients With Metabolic Syndrome.

Hypertension (Dallas, Tex. : 1979)
2026

Bradycardia, Renal Dysfunction, Atrioventricular Node Blockade, Shock, and Hyperkalemia (BRASH) Syndrome: Clinical Features, Outcomes, and Therapeutic Implications.

Cureus
2025

Urinary dopamine, sodium handling, and blood pressure in a bi-ethnic South African population: the SABPA study.

Cardiovascular journal of Africa
2026

Posterior reversible encephalopathy syndrome (PRES): A narrative review of pathophysiology, clinical insights, and advances in management.

International journal of emergency medicine
2026

Outcomes and predictors of kidney failure in elderly patients with biopsy-proven IgA nephropathy.

Renal failure
2026

Terlipressin in paediatric hepatorenal syndrome-acute kidney injury (HRS-AKI).

Pediatric nephrology (Berlin, Germany)
2026

A Silent Obstruction: Ureteropelvic Junction Syndrome Presenting As Resistant Hypertension in an Adult.

Cureus
2026

Herbal medicine use and renal dysfunction among persons living with HIV on Tenofovir-based ART in Kampala, Uganda.

PloS one
2026

Sonographic Hallmarks of Nutcracker Syndrome.

Ultrasound quarterly
2026

Neutrophil Gelatinase-Associated Lipocalin Drives Cardiac Remodeling in Rats With Chronic Kidney Disease.

Hypertension (Dallas, Tex. : 1979)
2026

A Case of Posterior Reversible Encephalopathy Syndrome Complicating a Thoracic Spinal Subdural Hematoma.

Cureus
2026

Testicular vein syndrome: hydronephrosis secondary to ureteral compression-a case report.

Journal of medical case reports
2026

An unusual trilogy: a case of comorbid aHUS, Fabry disease, and hypertrophic cardiomyopathy.

Frontiers in medicine
2026

Severe Hypokalemia After Corticosteroid Use: A Case of Steroid-Induced Potassium Depletion.

Cureus
2026

Clinicopathologic Features and Prognostic Factors in Biopsy-Confirmed Renal Involvement in Primary Sjőgren's Syndrome.

Kidney360
2026

Early eculizumab treatment improves renal outcomes in pediatric lupus nephritis with thrombotic microangiopathy.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2026

One-Year Follow-Up of Red Yeast Rice-Associated Renal Dysfunction: A Report of Two Cases.

Cureus
2025

Association between metabolic dysfunction-associated fatty liver disease and cardiovascular autonomic neuropathy in type 2 diabetes.

Frontiers in endocrinology
2026

Genetic Syndromes and Multimorbidity in Adults with Congenital Heart Disease and Heart Failure: Insights from the PATHFINDER-CHD Registry.

Journal of clinical medicine
2026

C3 mutation-associated atypical hemolytic uremic syndrome with severe renal dysfunction and hypertensive emergency successfully treated with ravulizumab and sacubitril/valsartan: a case report.

BMC nephrology
2026

FSTIV score is essential for clinical management and predicts outcome of idiopathic membranous nephropathy.

BMC nephrology
2025

C3 molecular structural and histopathological analyses in a pediatric case of atypical hemolytic uremic syndrome with life-threatening gastrointestinal bleeding-a case report.

Frontiers in pediatrics
2026

Causal demonstration of adiposity-induced adipose-specific signaling derangements in the pathogenesis of the clinical features of the cardiovascular-kidney metabolic syndrome.

Cardiovascular diabetology
2026

Hypertensive Havoc: When Malignant Hypertension Mimics Thrombotic Thrombocytopenic Purpura.

Cureus
2026

Blood pressure variability and frailty: mechanisms, evidence, and clinical implications.

International urology and nephrology
2026

Dialysis disequilibrium syndrome: An overview of the current neurosurgical state.

Surgical neurology international
2026

Glomerular Transcriptome Analysis Reveals Endothelial Disturbances in Patients With Idiopathic Nephrotic Syndrome.

Kidney medicine
2026

Resistant Hypertension: Integration of Novel Agents and Interventional Approaches in Clinical Practice.

Reviews in cardiovascular medicine
2026

Why is the European Unifying Recommendation for Treating Syndrome of Inappropriate Antidiuretic Hormone (SIADH) and Cerebral Renal Salt Wasting Not Commonly Recommended in the US.

Cureus
2026

Case Report: Neuroretinitis versus hypertensive retinopathy secondary to Alport syndrome.

Frontiers in neurology
2026

Targeting GLP1 receptor for reducing global cardiovascular risk.

Journal of translational medicine
2026

The impact of acute coronary syndrome on long-term survival in cancer patients.

Cardio-oncology (London, England)
2026

The hidden burden of kidney damage in chylomicronemia syndromes.

Atherosclerosis
2026

ST-segment elevation myocardial infarction as the first clue to membranous nephropathy: A case report.

Medicine
2026

Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.

Orphanet journal of rare diseases
2026

Severe Arterial Thrombosis Revealing Underlying Nephrotic Syndrome.

Cureus
2026

Intestinal obstruction associated with middle aortic syndrome: A case report.

The Journal of international medical research
2026

Clinical manifestations of primary aldosteronism and cardiometabolic risk.

Vitamins and hormones
2026

Acute kidney injury requiring temporary hemodialysis due to HELLP syndrome: a case report.

CEN case reports
2026

Endovascular Management of Renal Arteriovenous Fistula Associated with Nutcracker Syndrome.

EJVES vascular forum
2026

Persistent Hypercalcemia: Diagnostic Complexity With Multiglandular Hyperparathyroidism, Renal Cell Carcinoma, and Hereditary Tumor Features.

Cureus
2026

Always Consider a Repeat Kidney Biopsy: Acute Interstitial Nephritis Soon After Membranous Nephropathy.

Case reports in nephrology
2026

Cellular Interactions and Immunometabolic Mechanisms in Heart Failure With Preserved Ejection Fraction: From Molecular Mechanisms to Clinical Evidence.

Circulation. Heart failure
2026

Acute kidney injury is a major mediator of intra-abdominal pressure-related mortality in critically ill patients: a longitudinal analysis.

Journal of anesthesia, analgesia and critical care
2026

Histopathological evaluation in post-mortem renal biopsies of patients with COVID-19 and comorbidities: a case-control study.

Sao Paulo medical journal = Revista paulista de medicina
2025

A Review of the Long-Term Cardiovascular Consequences of Hypertensive Disorders of Pregnancy.

Cureus
2026

Cutting Balloon Angioplasty for Resistant Pediatric Renal Artery Stenosis: A Single Institutional Experience.

Journal of vascular and interventional radiology : JVIR
2025

Atypical Presentation of a Preeclamptic Patient With Severe Features and Auditory Hallucinations.

Cureus
2025

Cardiovascular-kidney-metabolic syndrome in Indonesia: a commentary on the need for integrated management and policy action.

Frontiers in public health
2026

Successful term pregnancy after renal transplant in end-stage renal disease with complement factor H-related mutation: A case report.

World journal of transplantation
2025

Population developmental hazard of over-the-counter NSAIDs.

Folia medica Cracoviensia
2026

Long-Term Kidney Outcomes After SARS-CoV-2 Infection in Children Aged 0-12 Years: A Systematic Review.

Children (Basel, Switzerland)
2026

SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights.

International journal of molecular sciences
2026

Comparison of the Clinical Course, Management and Outcomes of Acute Pancreatitis in Aged and Young Patients.

Biomedicines
2026

Systemic Arterial Stiffness in Reversible Cerebral Vasoconstriction Syndrome: A Prospective Case-Control Study.

European journal of neurology
2026

[Comparison of outcomes between emergency surgery and conservative treatment for acute type A aortic intramural hematoma].

Zhonghua yi xue za zhi
2025

Sequential Bilateral Central Retinal Vein Occlusion With Differential Long-Term Outcomes Following Cardiac Surgery.

Cureus
2026

JAG1 of all trades, master of CKD? The role of JAG1 in autosomal dominant tubulointerstitial kidney disease.

Kidney international
2026

Vascular Non-Inflammatory Molecule-1 Aggravates Acute Kidney Injury Induced Acute Lung Injury Via Promoting Neutrophil Extracellular Traps Formation.

Inflammation
2026

Frailty in Focus: A Scoping Review of Frailty Instruments from the Kidney Disease Aging Research Collaborative.

Clinical journal of the American Society of Nephrology : CJASN
2026

Tubulointerstitial nephritis with uveitis (TINU) syndrome following COVID-19 vaccination in an elderly patient: a case report.

CEN case reports
2025

Severe Maternal Morbidity and Long-Term Kidney Outcomes among Pregnant Women Receiving Maintenance Dialysis.

Journal of the American Society of Nephrology : JASN
2025

Modulation of the Apolipoprotein M/S1PR4 Pathway Reduces Podocyte Lipid Overload in Alport Syndrome via Distinct Autophagy and Efflux Mechanisms.

Journal of the American Society of Nephrology : JASN
2026

Impact of metabolic syndrome and its components on the tumor aggressiveness of renal cell carcinoma.

Medicine
2025

The Hepato-Cardio-Renal Axis in Cirrhosis: Hemodynamic and Mechanistic Insights, Diagnostic Biomarkers, and Expanding Therapeutic Horizons.

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Neural Upregulation of SGLT2-MAP17-PDZK1 Complex in Kidneys of Rats With Heart Failure.

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SGLT2 inhibitors are associated with improved long-term survival in Takotsubo syndrome: insights from large-scale real-world data.

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GDF-15 as an integrative cardiometabolic biomarker.

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Epidemiology of Macrovascular and Microvascular Complications Among Patients With Diabetes Mellitus in Primary Care in Bahrain.

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Extracorporeal membrane oxygenation for pulmonary arterial hypertension complicating pregnancy: case series and literature review.

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Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.

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The 2025 KDIGO guideline on the management of nephrotic syndrome in children: a comment of the European Renal Association Immunonephrology Working Group.

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Twenty years of pediatric vascular surgery consultations and interventions at a tertiary academic center.

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Multiorgan involvement and residual effects in transurethral resection of prostate syndrome: A case report and literature review.

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Explainable machine learning framework using visceral adiposity index to predict cardiorenal syndrome: a survey-weighted NHANES study with SHAP interpretation.

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Incidental Finding of Secondary Focal Segmental Glomerulosclerosis in Renal Allograft due to Renal Artery Stenosis.

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Diagnostic Challenges in Atypical Hemolytic Uremic Syndrome: A Case of Artificial Mitral Valve Dysfunction as a Possible Trigger for Severe Thrombotic Microangiopathy.

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Secondary causes and renal outcomes in apparently resistant hypertension: a retrospective cohort study.

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2026

Osmotic Nephropathy Induced by L-Proline Stabilized Sucrose-free Intravenous Immunoglobulins: A Case Report.

Kidney medicine
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Complicated Pregnancy in a Patient with Distal Renal Tubular Acidosis, Systemic Lupus Erythematosus, and Antiphospholipid Syndrome: A Rare Case and Management Strategies.

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Petting Zoo Perils: Escherichia coli O157:h7 Associated Hemolytic Uremic Syndrome Secondary to Animal Exposure.

Hemodialysis international. International Symposium on Home Hemodialysis
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Posterior reversible encephalopathy syndrome following blood transfusion and GnRH agonist.

Practical neurology
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Why are SGLT2 inhibitors effective in HFpEF? Implications for interstitial fluid retention and cardio-renal interaction.

Hypertension research : official journal of the Japanese Society of Hypertension
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Silent progression: cardiac amyloidosis unmasking IgG lambda myeloma in an elderly patient.

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology
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A rare case of apparent mineralocorticoid excess induced by chronic liquorice ingestion.

Endocrinology, diabetes &amp; metabolism case reports
2026

Tandem Extracorporeal Blood Purification/Support Therapies in Critically Ill Children: A Literature Review.

Critical care medicine
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Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report.

Case reports in nephrology and dialysis
2025

Hypokalemic metabolic alkalosis as a clinical clue to ectopic ACTH syndrome: two cases of neuroendocrine carcinoma.

Endocrine regulations
2026

Association of cardiovascular-kidney-metabolic syndrome stages with mortality: A nationwide, population-based, prospective cohort study.

Chinese medical journal
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Paradoxical Hyperkalemia in Bartter Syndrome: A Case Report of Severe Resistant Hyperkalemia Requiring Hemodialysis.

Case reports in nephrology
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Complement factor H-point mutation promotes the development of preeclampsia-like phenotype with multiparity in mice.

Placenta
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Factors associated with venous and arterial thrombosis in patients with Systemic Lupus Erythematosus: A systematic review and meta-analysis.

Thrombosis research
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Beyond CKD-Associated Pruritus: Paraneoplastic Itch Revealing CLL/SLL in ESRD: A Case Report.

The American journal of case reports
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Emerging methods for subtype differentiation in primary aldosteronism.

Journal of internal medicine
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Reverse-Wire TEVAR for Subacute Type B Aortic Dissection with Severe True-Lumen Collapse: A Case Report.

Life (Basel, Switzerland)
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SGLT2 Inhibitors and Liver Cirrhosis: Hype or Hope?

Life (Basel, Switzerland)
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International journal of molecular sciences
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Temporary Portocaval Shunts During Liver Transplantation: A Narrative Review of Technical Solutions and Post-Transplant Outcomes.

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First-Line Treatment with Tivozanib for Metastatic Renal Cell Carcinoma in Real-World Settings Across Germany: Results of the Prospective, Non-Interventional, Post-Approval Study T-Rex.

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Chemerin as a Mediator of Hypertension and Cardiometabolic Diseases (A Comprehensive Review).

Current hypertension reports
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Exploring the association between pulse wave velocity and CKD progression: a longitudinal study in Mashhad, Iran.

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Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.

Kidney international
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Pendrin is upregulated by corticosterone and participates in its pressor response.

American journal of physiology. Renal physiology
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Cureus
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Integrated mechanisms linking sodium-potassium imbalance to salt-sensitive hypertension.

Physiological reports
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Human coronavirus HKU1 (HCoV-HKU1)-associated acute respiratory distress syndrome: A case report.

Respiratory medicine case reports
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Primary aldosteronism: adrenalectomy could save more lives.

Frontiers in endocrinology
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Anti-PLA2R Antibody-Positive Membranous Nephropathy Superimposed by Pleural Tuberculosis a Year Later: Mere Association or Actual Cause?

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
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[The Characteristics of Course of Pregnancy and Perinatal Outcomes in Women with Gestation Diabetes Mellitus (The Results of Ten-Years Research)].

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Pathogenic Role of mTOR Signaling in Cardiometabolic Disease: Implications for Heart, Liver, and Kidney Dysfunction.

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Cardiology in review
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Frontiers in immunology
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Development of a risk factor nomogram prediction model for patients with acute coronary syndrome complicated by hypertension using LASSO regression analysis.

BMC cardiovascular disorders
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Risk factors for persistent decline in eGFR of Japanese patients with diabetes: Analysis using a large-scale diabetes registry J-DREAMS.

Journal of diabetes investigation
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Ravulizumab in treatment-naïve patients with atypical hemolytic uremic syndrome: a real-world case series.

Drug target insights
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Unveiling the Diagnostic and Prognostic Value of Inflammatory Cytokines in Preeclampsia: A Review of Ιnterleukins IL-15, IL-16, IL-17 and IL-35.

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BMC pregnancy and childbirth
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Posterior Reversible Encephalopathy Syndrome With Spinal Cord Involvement: A Case Report and Literature Review.

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NELL1-Associated Membranous Nephropathy in a Patient with Papillary Thyroid Carcinoma: A Case Report and Literature Review.

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Bridging Cardiorenal and Hepatic Disease: The Emerging Role of SGLT2 Inhibitors in Cirrhosis.

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Anaesthesiology intensive therapy
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Association between metabolic syndrome and chronic kidney disease in the Brazilian population, a cross-sectional analysis.

Scientific reports
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Ultrasound-Guided Jugular Vein Access for Inferior Petrosal Sinus Sampling: A Safe and Feasible Technique.

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Unmasking Secondary Hypertension: Renal Artery Stenosis Concealing the Diagnosis of Primary Hyperaldosteronism.

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Doenças relacionadas

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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.

  1. Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
    Frontiers in pediatrics· 2026· PMID 41878457mais citado
  2. High-grade follicular B-cell lymphoma-associated C3 rapidly progressive glomerulonephritis: a rare association.
    BMJ case reports· 2026· PMID 41839518mais citado
  3. Melatonin as a Redox Modulator in Developmental Programming: Implications for Cardiovascular-Kidney-Metabolic Risk.
    International journal of molecular sciences· 2026· PMID 41828607mais citado
  4. Management of pediatric patients with moyamoya arteriopathy and middle aortic syndrome: a retrospective single-institution case series.
    Journal of neurosurgery. Pediatrics· 2026· PMID 41825070mais citado
  5. The REDD1-NF-&#x3ba;B-miRNAs-eNOS/SIRT1 axis mediates obesity-induced endothelial cell senescence and hypertension.
    Nature communications· 2026· PMID 41820389mais citado
  6. Intestinal obstruction associated with middle aortic syndrome: A case report.
    J Int Med Res· 2026· PMID 41639963recente
  7. Long-term outcomes after the mesenteric artery growth improves circulation (MAGIC) procedure for midaortic syndrome.
    Surgery· 2026· PMID 41151493recente
  8. Association of Osteopontin and selective glomerular hypofiltration syndrome with hospitalization for kidney failure in acute heart failure patients.
    BMC Nephrol· 2025· PMID 41053620recente
  9. Identification of cystatin C as a new marker of glomerular filtration rate, and of shrunken pore syndrome - a new kidney disorder defining selective glomerular hypofiltration syndromes - calls for expansion of the international KDIGO guidelines.
    Scand J Clin Lab Invest· 2025· PMID 40888652recente
  10. Systemic effect of different physiological parameter associated with mirror syndrome.
    J Obstet Gynaecol Res· 2025· PMID 40887865recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:363694(Orphanet)
  2. OMIM OMIM:613845(OMIM)
  3. MONDO:0013458(MONDO)
  4. GARD:17569(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q30314091(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

Compêndio · Raras BR

Síndrome de hiperuricemia – hipertensão pulmonar – falência renal – alcalose

ORPHA:363694 · MONDO:0013458
Prevalência
<1 / 1 000 000
Casos
4 casos conhecidos
Herança
Autosomal recessive
CID-10
E88.8 · Outros distúrbios especificados do metabolismo
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C3151209
Repurposing
144 candidatos
acebutololadrenergic receptor antagonist
alaceprilangiotensin converting enzyme inhibitor
aliskiren-hemifumaraterenin inhibitor
+17 outros
Wikidata
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