É uma síndrome rara que afeta o cérebro, faz o coração ficar maior que o normal e causa problemas nos túbulos dos rins. É uma doença das mitocôndrias (as 'usinas de energia' das células) causada por um defeito na produção da coenzima Q10. A doença se manifesta com uma grande variedade de sinais e sintomas, que podem incluir: acúmulo excessivo de ácido láctico no sangue de recém-nascidos (acidose láctica), atraso global no desenvolvimento (físico e mental), alterações no tônus muscular (os músculos podem estar muito tensos ou muito 'moles'), convulsões, diminuição dos movimentos espontâneos (aqueles feitos sem esforço), aumento das paredes dos ventrículos (câmaras do coração), batimentos cardíacos lentos, mau funcionamento dos túbulos dos rins com grande eliminação de ácido láctico na urina, um defeito grave na parte da 'máquina' de energia das células chamada cadeia respiratória (nos complexos II e III, quando testados juntos) e falta de coenzima Q10 nos músculos do corpo. Na ressonância magnética, pode-se observar atrofia (diminuição de tamanho) no cérebro e no cerebelo (outra parte do cérebro). E, no ultrassom, foram notados vários cistos (pequenas bolsas de líquido) no plexo coroide (uma estrutura dentro do cérebro) e alterações simétricas que aparecem mais claras nos gânglios da base (outra região cerebral).
Introdução
O que você precisa saber de cara
É uma síndrome rara que afeta o cérebro, faz o coração ficar maior que o normal e causa problemas nos túbulos dos rins. É uma doença das mitocôndrias (as 'usinas de energia' das células) causada por um defeito na produção da coenzima Q10. A doença se manifesta com uma grande variedade de sinais e sintomas, que podem incluir: acúmulo excessivo de ácido láctico no sangue de recém-nascidos (acidose láctica), atraso global no desenvolvimento (físico e mental), alterações no tônus muscular (os músculos podem estar muito tensos ou muito 'moles'), convulsões, diminuição dos movimentos espontâneos (aqueles feitos sem esforço), aumento das paredes dos ventrículos (câmaras do coração), batimentos cardíacos lentos, mau funcionamento dos túbulos dos rins com grande eliminação de ácido láctico na urina, um defeito grave na parte da 'máquina' de energia das células chamada cadeia respiratória (nos complexos II e III, quando testados juntos) e falta de coenzima Q10 nos músculos do corpo. Na ressonância magnética, pode-se observar atrofia (diminuição de tamanho) no cérebro e no cerebelo (outra parte do cérebro). E, no ultrassom, foram notados vários cistos (pequenas bolsas de líquido) no plexo coroide (uma estrutura dentro do cérebro) e alterações simétricas que aparecem mais claras nos gânglios da base (outra região cerebral).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Catalyzes the hydroxylation of the 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone at the C6 position and participates in the biosynthesis of ubiquinone (Probable). Catalyzes the reaction through a substrate-mediated reduction pathway, whereby NADH shuttles electrons to 5-methoxy-2-methyl-3-(all-trans-decaprenyl)benzoquinone, which then transfers the electrons to the two Fe(3+) centers (PubMed:23445365). The binding of 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone (DMQn) mediat
Mitochondrion inner membraneMitochondrionNucleusChromosome
Coenzyme Q10 deficiency, primary, 8
An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment.
Membrane-associated protein that warps the membrane surface to access and bind aromatic isoprenes with high specificity, including ubiquinone (CoQ) isoprene intermediates and presents them directly to COQ7, therefore facilitating the COQ7-mediated hydroxylase step (PubMed:25339443, PubMed:30661980, PubMed:38425362). Participates in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:25339443, PubMed:30661
Mitochondrion
Coenzyme Q10 deficiency, primary, 5
A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.
Variantes genéticas (ClinVar)
120 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 58 variantes classificadas pelo ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
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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 — Síndrome de encefalopatia-miocardiopatia hipertrófica-doença tubular renal
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The Journal of pharmacology and experimental therapeuticsCase Report: A rare case of complex Behçet's disease complicated with acute tubular necrosis and IgA nephropathy, coexists with myelodysplastic syndrome, trisomy 8 and intestinal involvement.
Frontiers in immunologyThe challenges of managing distal renal tubular acidosis in pregnant patients with primary Sjögren's disease.
BMJ case reportsNovel CNNM2 variant causing hypomagnesemia and early-onset calcium pyrophosphate deposition disease: A case report.
Joint bone spineMultidisciplinary Management and Individualized Care in Pregnancy with Fanconi-Bickel Syndrome: A Case Report and Review of the Literature.
International medical case reports journalPotential of Orally Administered Quercetin, Hesperidin, and p-Coumaric Acid in Suppressing Intra-/Extracellular Advanced Glycation End-Product-Induced Cytotoxicity in Proximal Tubular Epithelial Cells.
International journal of molecular sciencesHEC95468, a novel soluble guanylate cyclase stimulator, shows protection in the Dahl model of cardiorenal disorder.
European journal of pharmacologyNovel Scalar-on-matrix Regression for Unbalanced Feature Matrices.
Statistics in biosciencesUrine-to-blood urea nitrogen ratio predicts proteinuria remission in nephrotic syndrome.
Clinical and experimental nephrologyUnderlying metabolic syndrome exacerbates Vibrio vulnificus-induced acute kidney injury via systemic Th17/Treg dysregulation.
American journal of physiology. Renal physiologyConcordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight.
Endocrinology, diabetes & metabolism case reportsAcute kidney injury and nephrotic syndrome caused by a "magic pill".
Clinical nephrology. Case studiesCitrate and calcium kidney stones.
Clinical kidney journalCurrent epidemiological overview of glomerulonephritis in Latin America: a systematic literature review.
Journal of nephrologyKidney Tubule Secretion Can Discriminate the Cause of Acute Kidney Injury in Cirrhosis.
Clinical journal of the American Society of Nephrology : CJASNA Novel Mutation of Fanconi-Bickel Syndrome: A Case Report.
The Journal of the Association of Physicians of IndiaTubular ACSM3 deficiency impairs medium-chain fatty acid metabolism and aggravates kidney fibrosis.
Proceedings of the National Academy of Sciences of the United States of AmericaMultiple Myeloma With Renal Pathological Findings of Both Light Chain-Only Variant of Proliferative Glomerulonephritis With Monoclonal Immunoglobulin Deposits (PGNMID-LC) and Light Chain Deposition Disease (LCDD).
CureusAcute Drug-Induced Tubulointerstitial Nephritis: Current Perspectives on Diagnosis and Treatment.
Advances in kidney disease and healthNovel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.
Nephrology (Carlton, Vic.)LRP5: A Multifaceted Co-Receptor in Development, Disease, and Therapeutic Target.
CellsReal-World Use of Terlipressin in Cirrhosis and Acute Kidney Injury: Frequent Use Beyond Hepatorenal Syndrome.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationCRISPR and gene editing for kidney diseases: where are we?
Clinical kidney journalCopeptin in the diagnosis and management of renal tubular disorders.
Pediatric nephrology (Berlin, Germany)Evaluation of Serum Levels of Kidney Injury Molecule-1 (KIM-1) and Neutrophil Gelatinase-Associated Lipocalin (NGAL) as Potential Biomarkers of Renal Tubular Damage in Brucellosis Patients.
International journal of general medicineReduced TIGIT+CD56+NK cells associate with disease progression and impaired immune regulation in primary Sjögren's syndrome.
Clinical rheumatologyFatigue, Polyuria, and Hidden Uveitis: A Case of Tubulointerstitial Nephritis and Uveitis Syndrome Diagnosed in Primary Care.
CureusSilencing RPL11 attenuates acute kidney injury by suppressing tubular apoptosis and macrophage-driven inflammation.
Frontiers in immunologyHypokalemic Periodic Paralysis in a Patient With Primary Sjögren's Syndrome and Distal Renal Tubular Acidosis: A Case Report.
Clinical medicine insights. Case reportsPseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights.
Frontiers in geneticsAcute Kidney Injury in Patients with Liver Cirrhosis: From Past to Present Definition and Diagnosis.
Life (Basel, Switzerland)Bilateral, multicystic fumarate hydratase-deficient renal cell carcinoma in patient with hereditary leiomyomatosis & renal cell carcinoma syndrome: A case report and review of the literature.
Diagnostic pathologyUse of urinary NGAL in steroid-resistant vs. steroid-sensitive nephrotic syndrome: a systematic review and meta-analysis.
BMC nephrologyMitochondrial dysfunction and metabolic reprogramming in acute kidney injury: mechanisms, therapeutic advances, and clinical challenges.
Frontiers in physiologyFGF4 alleviates renal injury caused by ischemia-reperfusion(I/R) by inhibiting ferroptosis and pyroptosis.
PeptidesAnalysis of pathological spectrum characteristics in elderly patients with nephrotic syndrome: a comparative study with non-elderly patients.
Renal failureHereditary distal renal tubular acidosis with chronic granulomatous disease: a rare coincidence.
CEN case reportsModelling Lowe syndrome and Dent-2 disease using zebrafish.
Frontiers in cell and developmental biologyChronic ACTH Infusion Alters the Diurnal Rhythm of Sodium Excretion, Inducing Nondipping Blood Pressure and Salt-Sensitivity in Male Mice.
Hypertension (Dallas, Tex. : 1979)Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.
GeneticsRenal Vein Blood Flow Patterns Identify Patients at Risk for Early Kidney Allograft Loss Due to Cardiac Postrenal Vein Congestion.
Journal of clinical medicineKeratin 20 Suppresses Exosomal Secretion of Peroxiredoxin 2 and Ferroptosis in Acute Kidney Injury.
Journal of the American Society of Nephrology : JASNDNAJC6 in acute kidney injury: A novel target for protecting renal tubular epithelial cells through PGC-1α-mediated mitochondrial homeostasis.
Experimental cell researchRenal Involvement in Primary Sjögren's Syndrome: A Multi-centric Study From North India.
CureusA case of adult-onset Bartter syndrome with transient paraplegia.
Oxford medical case reportsSjogren's Syndrome in the Mask of Hypokalemia: A Case Report.
JNMA; journal of the Nepal Medical AssociationKidney melanosis associated with a novel HSP-1 Hermansky-Pudlak oculocutaneous albinism mutation: a case report.
BMC nephrologyCraniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.
BMJ case reportsA rare concurrence of monoclonal gammopathies in an older adult with tubulointerstitial nephritis and uveitis syndrome.
BMC geriatricsSystemic immune-inflammatory biomarkers assist in differentiating clinical features of different etiologies of acute kidney injury: results from eICU Collaborative Research Database.
Renal failureThe effect of carvacrol on kidney injury caused by isopreterenol-induced myocardial infarction.
BMC nephrologyInjured tubule derived CCN1 exacerbates renal congestion-mediated acute kidney injury and fibrosis.
Scientific reportsHesperetin attenuates ischemia/reperfusion-induced acute kidney injury by regulating ferroptosis in mice.
Renal failureAberrant activation of IL-6/JAK/STAT3/FOSL1 signaling induces renal abnormalities in a Xenopus model of Joubert syndrome-related disorders.
The Journal of biological chemistryRenal tubular acidosis: Varied aetiologies and clinical presentations: Three case reports.
World journal of nephrologyAn Atypical Case of Sjögren's Syndrome: A Surprise Diagnosis.
CureusHemoglobin-associated CALR in proximal tubule cells can be used as a biomarker for idiopathic membranous nephropathy.
Frontiers in medicineNew and Emerging Biomarkers in Chronic Kidney Disease.
BiomedicinesTranscriptomic Redox Dysregulation in a Rat Model of Metabolic Syndrome-Associated Kidney Injury.
Antioxidants (Basel, Switzerland)Acute kidney injury through a metabolic lens: pathological reprogramming mechanisms and clinical translation potential.
Frontiers in physiologyCardiac LIM Protein, Kidney Fibrosis, and Vascular Change after Acute Cardiorenal Syndrome.
Journal of the American Society of Nephrology : JASNIdentifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.
Clinical geneticsZhen-wu-tang alleviates nephrotic syndrome by upregulating 5-HTR1B to activate AMPK/PGC-1α-mediated mitochondrial biogenesis.
Journal of ethnopharmacologySuccinate links TCA cycle dysfunction to inflammation by activating HIF-1α signaling in acute kidney injury.
International immunopharmacologyEfficacy of Nrf2 activation in a proteinuric Alport syndrome mouse model.
Life science allianceNeutrophil Gelatinase-Associated Lipocalin (NGAL) as a Biomarker of Acute Kidney Injury (AKI) in Dogs with Congestive Heart Failure (CHF) Due to Myxomatous Mitral Valve Disease (MMVD).
Animals : an open access journal from MDPILatent renal tubular dysfunction in patients with epilepsy treated with valproic acid.
Epilepsy researchNephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman.
Journal of medical casesRenal replacement therapy in liver transplant-ineligible patients.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation SocietyThe Diagnosis and Management of Hepatorenal Syndrome: A Comprehensive Update for the Intensivist.
Journal of intensive care medicineMito-tempo ameliorates tubular injury of diabetic nephropathy via inhibiting mt-dsRNA release and PKR/eIF2α pathway activation.
Free radical biology & medicineThe enzyme SMPDL3b in podocytes decouples proteinuria from chronic kidney disease progression in experimental Alport Syndrome.
Kidney internationalTRPC6-targeted dexamethasone nanobubbles with ultrasound-guided theranostics for adriamycin-induced nephropathy.
Journal of nanobiotechnologyValacyclovir-induced neurotoxicity and nephrotoxicity in an elderly patient with a history of nephrectomy: a case report.
BMC nephrologyA cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.
Orphanet journal of rare diseasesGitelman syndrome with hypercalcemia and normomagnesemia: A case report.
MedicineCrescentic Glomerulonephritis Possibly Caused by COVID-19 Infection.
Journal of clinical medicinePhenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
GenesFrom prenatal detection to postnatal evaluation: a retrospective observational ultrasound study of patent urachus with allantoic cyst.
BMC pregnancy and childbirthHypertensive Emergency and Atypical Hemolytic Uremic Syndrome Associated with Cocaine Use: A Diagnostic and Therapeutic Challenge.
Diseases (Basel, Switzerland)Cockayne syndrome mice reflect human kidney disease and are defective in de novo NAD biosynthesis.
Cell death and differentiationLong-term outcomes in nephropathic cystinosis: a review.
Pediatric nephrology (Berlin, Germany)Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.
Pediatric nephrology (Berlin, Germany)Multicentric B-cell lymphoma, phaeochromocytoma and amyloid-rich thyroid carcinoma in a common warthog (Phacochoerus africanus): a case of multiple endocrine neoplasia type 2?
Journal of comparative pathologyIntegral kidney function assessment in pediatric patients with glycogen storage diseases.
Frontiers in pediatricsTargeting Stat3 with conditional knockout or PROTAC technology alleviates renal injury by Limiting pyroptosis.
EBioMedicineClerodendranthus spicatus-Cordyceps cicadae regulates mitophagy and protects renal tubular epithelial cells from hyperuricemic nephropathy.
Journal of ethnopharmacologyAssociações
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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.
- Tubular Damage Biomarkers Are a Useful Tool for Identifying Early Renal Injury in Long COVID.
- Refractory Rickets: Evaluation and Management.
- Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction.
- Diabetic Kidney Disease: From Pathophysiology to Treatment Perspectives.
- Clinical diagnosis and biomarkers of acute kidney injury in liver cirrhosis: a systematic review.
- Increased Urinary Albumin Excretion But Less Damaged Renal Tubular Structures in Mice with Genetically Decreased Elmo1 Post Ischemia/Reperfusion Injury.
- Integration of histopathology and molecular tools in shrimp health surveillance: A case study from Colombia.
- Kidney pathology findings in pediatric patients with kidney injury and inflammatory bowel disease: a case series.
- Renal Venous Hypertension and Kidney Dysfunction: Implications for Clinical Practice.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:319678(Orphanet)
- OMIM OMIM:614654(OMIM)
- MONDO:0013840(MONDO)
- GARD:17470(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q60195093(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
