Doença renal crônica (português brasileiro) ou doença renal crónica (português europeu) é a presença de alterações da estrutura ou funções dos rins, com ou sem alteração da filtração glomerular, por um período maior que 3 meses e com implicações na saúde do indivíduo.
Introdução
O que você precisa saber de cara
Doença renal rara, autossômica dominante, associada a mutações no gene APOE. Caracteriza-se por proteinúria, insuficiência renal progressiva e hipercelularidade mesangial, com depósitos de lipoproteínas nos glomérulos.
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
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 4 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 dominant.
APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids (PubMed:14754908, PubMed:1911868, PubMed:6860692). APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance (PubMed:14754908, PubMed:1911868, PubMed:1917954, PubMed:23620513, PubMed:2762297, PubMed:6860692, PubMed:9395455). Apolipoproteins are amphipathic mole
SecretedSecreted, extracellular spaceSecreted, extracellular space, extracellular matrixExtracellular vesicleEndosome, multivesicular body
Hyperlipoproteinemia 3
A disorder characterized by the accumulation of intermediate-density lipoprotein particles (IDL or broad-beta-lipoprotein) rich in cholesterol. Clinical features include xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause.
Variantes genéticas (ClinVar)
67 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 15 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
12 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 — Glomerulopatia por lipoproteínas
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.
Publicações mais relevantes
Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants.
Alport syndrome (AS) is the most common inherited glomerular disease among patients with chronic kidney disease. With exome sequencing now widely used in clinical practice, pathogenic variants in Alport-related genes (COL4A3/COL4A4/COL4A5) are increasingly identified in patients with diverse phenotypes, including proteinuria‑predominant disease and kidney failure of unknown etiology. Diagnostic complexity further increases when COL4A3/COL4A4/COL4A5 variants are co‑inherited with pathogenic variants associated with other genetic kidney disorders. We reported a 31‑year‑old male presenting with kidney failure, significant proteinuria, familial hematuria and hyperlipidemia. Whole‑exome sequencing (WES) identified two pathogenic variants: a hemizygous COL4A5 variant (c.2105G > A; p.Gly702Asp) and a heterozygous APOE Kyoto variant (c.127C > T; p.Arg43Cys). Given the potential dual diagnosis of AS and lipoprotein glomerulopathy (LPG), a kidney biopsy was performed. Histologic examination revealed uneven thickness of the glomerular basement membrane consistent with the diagnosis of AS, but no LPG-related lesions were observed, indicating incomplete penetrance of APOE Kyoto variant. Cascade family screening detected APOE Kyoto variant in the patient's father and elder sister, both of whom lacked proteinuria until follow-up period. This case highlights the complementary role of kidney biopsy alongside WES in AS with complex genetic mechanisms. It also illustrates the incomplete penetrance of APOE Kyoto, common among Chinese carriers.
Clinical characteristics and APOE variant spectrum in Chinese patients with lipoprotein glomerulopathy.
Fingerprints of lipoprotein glomerulopathy - An addition to the list of rare diseases in India.
Lipoprotein glomerulopathy is a rare familial disease due to mutations in the apolipoprotein E gene. The characteristic histological finding is deposition of lipoprotein thrombi in the glomerular capillaries. We present two cases, aged 35 years, male and female, respectively, both of whom presented with nephrotic syndrome. Renal biopsy revealed glomeruli which appeared enlarged in size, with many of the glomerular capillaries filled with amorphous thrombi-like material that were lamellated, and vacuolated at a few places. These thrombi appeared PAS weak positive, MT pale blue, silver negative, and Congo-Red negative. These capillary luminal contents stained reddish with Oil-red O confirming lipid contents. Glomerular tufts were negative for all antisera on direct immunoflorescence. A final opinion of lipoprotein glomerulopathy was given, following which patients were worked up for dyslipidemia and were managed with fibrates. Our first case underwent renal transplant in 2019 and has shown recurrence of lipoprotein glomerulopathy in his recent post-transplant biopsy done in December 2024.
Identification of a founder haplotype of APOE Kyoto variant in lipoprotein glomerulopathy.
Lipoprotein glomerulopathy (LPG) is a rare autosomal dominant inherited kidney disease with incomplete penetrance, characterized by nephrotic-range proteinuria, hypertriglyceridemia and progressive renal dysfunction with elevated serum apoE level. More than 15 APOE mutations have been associated with LPG, with APOE Kyoto (Arg43Cys) the leading mutation in about 200 patients. We previously observed clustering of "APOE Kyoto causing LPG" in a Han population in China. We now explore the haplotype of the APOE Kyoto heterozygotes and the distribution of LPG patients in China. A total of 115 APOE Kyoto heterozygotes were enrolled and identified by Sanger sequencing, and in this study, the haplotypes of Kyoto and counterpart alleles were investigated by TA cloning and Sanger sequencing. Overall, 114 out of 115 APOE Kyoto alleles shared an identical haplotype, likely from haplotype 1 in ε3. Among heterozygotes, the counterpart of APOE Kyoto allele showed haplotype diversity, and the difference in haplotype distribution of the counterpart allele was not observed between LPG patients and asymptomatic carriers. This study provides further evidence for the founder effect of APOE Kyoto may play a critical role in the progression of LPG.
Post-transplantat recurrence of lipoprotein glomerulopathy: report of 4 cases and literature review.
Lipoprotein glomerulopathy (LPG) is an ultrarare kidney disorder caused by pathogenic variants in the APOE gene. Although kidney biopsy presents typical findings, such as dilated capillary loops containing lipoprotein thrombi, definitive diagnosis requires molecular genetic analysis of APOE. There is no specific treatment for the disease, and, in the scenario of a disorder with glomerular lipoprotein deposition, it may recur after kidney transplantation. Herein we reported 4 cases of post-transplant recurrence of LPG in Brazilian patients, including 1 case of early relapse (in the first year following transplantation) and 3 cases of late relapse. Two of the patients had the APOE Kyoto variant, while 2 harbored the APOE Osaka/Kurashiki variant. As in previously described cases, the clinical response was heterogeneous despite the use of statins and antiproteinuric agents, with proteinuria remission or persistence and progression to different stages of chronic kidney disease. Such cases strongly support the molecular genetic investigation of cases suspected of LPG, even in a Latin American population. A confirmed diagnosis can raise the likelihood of disease recurrence in the kidney graft and provide valuable information for selecting a potential living kidney donor.
Publicações recentes
Clinical characteristics and APOE variant spectrum in Chinese patients with lipoprotein glomerulopathy.
Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants.
Fingerprints of lipoprotein glomerulopathy - An addition to the list of rare diseases in India.
A Novel Therapy of Finerenone and Dapagliflozin for Lipoprotein Glomerulopathy.
A case of lipoprotein glomerulopathy complicated with IgA nephropathy.
📚 EuropePMC146 artigos no totalmostrando 65
Clinical characteristics and APOE variant spectrum in Chinese patients with lipoprotein glomerulopathy.
Chinese medical journalDeciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants.
BMC nephrologyFingerprints of lipoprotein glomerulopathy - An addition to the list of rare diseases in India.
Indian journal of pathology & microbiologyA Novel Therapy of Finerenone and Dapagliflozin for Lipoprotein Glomerulopathy.
Kidney international reportsA case of lipoprotein glomerulopathy complicated with IgA nephropathy.
Clinical nephrologyIdentification of a founder haplotype of APOE Kyoto variant in lipoprotein glomerulopathy.
Clinical kidney journalPost-transplantat recurrence of lipoprotein glomerulopathy: report of 4 cases and literature review.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant SurgeonsNormolipidemic lipoprotein glomerulopathy with IgA nephropathy - ApoE Kyoto mutation: a case report.
Diagnostic pathologyA boy and his mother with lipoprotein glomerulopathy: Two case reports and literature review.
MedicineA case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C > A: p. (Ala170Asp).
Journal of clinical lipidologyImpact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.
Journal of atherosclerosis and thrombosisFenofibrate in Lipoprotein Glomerulopathy: A 20-Year Long Resolution.
International journal of surgical pathologyFirst patient diagnosed with lipoprotein glomerulopathy and Alport syndrome.
Nephrology (Carlton, Vic.)Lipoprotein glomerulopathy with a novel apolipoprotein E variant, APOE Kanto (Asp 151dup).
CEN case reportsLipoprotein glomerulopathy with markedly increased arterial stiffness successfully treated with a combination of fenofibrate and losartan: a case report.
BMC nephrologyClinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy.
Renal failureA case report of youth-onset lipoprotein glomerulopathy with APOE Chicago mutation.
BMC nephrologyLipoprotein glomerulopathy: a rare cause of steroid-resistant nephrotic syndrome in a child.
CEN case reportsLipoprotein Glomerulopathy With Complete Resolution With Fenofibrate: Report of First Case From Pakistan.
International journal of surgical pathologyWhole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria.
Clinica chimica acta; international journal of clinical chemistryGlomerular lipidosis as a feature of renal-limited macrophage activation syndrome in a transplanted kidney: a case report.
BMC nephrologyApolipoprotein E-associated Lipoprotein Glomerulo-tubulopathy.
Internal medicine (Tokyo, Japan)Lipoprotein glomerulopathy with membranoproliferative pattern in a patient with cholestatic liver disease-lesson for the clinical nephrologist.
Journal of nephrologyThe first case of lipoprotein glomerulopathy complicated with collagen type III glomerulopathy and literature review.
Journal of nephrologyLipoprotein Glomerulopathy, First Case Report from Canada.
International journal of nephrology and renovascular diseaseAn Updated Review and Meta Analysis of Lipoprotein Glomerulopathy.
Frontiers in medicineA novel apolipoprotein E mutation, ApoE Ganzhou (Arg43Cys), in a Chinese son and his father with lipoprotein glomerulopathy: two case reports.
Journal of medical case reportsLipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.
MedicineUnusual late presentation of lipoprotein glomerulopathy recurrence in a Chinese kidney transplant recipient.
Journal of clinical lipidologyLipoprotein Glomerulopathy-Like Lesions in Atherosclerotic Mice Defected With HDL Receptor SR-B1.
Frontiers in cardiovascular medicineCase Report: A Pediatric Case of Lipoprotein Glomerulopathy in China and Literature Review.
Frontiers in pediatricsLipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America.
Diagnostic pathologyA case of lipoprotein glomerulopathy in a Greek Caucasian male.
International urology and nephrologyCase Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome.
Frontiers in medicineAPOE gene variants in primary dyslipidemia.
AtherosclerosisApolipoprotein E and Atherosclerosis.
Current atherosclerosis reportsLipoprotein glomerulopathy induced by ApoE Kyoto mutation in ApoE-deficient mice.
Journal of translational medicineClinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations.
Molecular genetics & genomic medicine[Discovery of a Chinese Tibetan patient with lipoprotein glomerulopathy due to APOE Osaka/Kurashiki variant].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsApolipoprotein E-related glomerular disorders.
Kidney internationalLipoprotein Glomerulopathy in a Hispanic Female: A Case Report and Literature Review.
Canadian journal of kidney health and diseaseIntravascular cardiac lipoproteinosis: extrarenal manifestation of lipoprotein glomerulopathy.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyA novel apolipoprotein E mutation caused by a five amino acid deletion in a Chinese family with lipoprotein glomerulopathy: a case report.
Diagnostic pathologyUnusual Case of Lipoprotein Glomerulopathy First Diagnosed in a Protocol Kidney Allograft Biopsy.
Kidney international reportsA case of apolipoprotein E Toyonaka and homozygous apolipoprotein E2/2 showing non-immune membranous nephropathy-like glomerular lesions with foamy changes.
CEN case reportsA young Chinese man with nephrotic syndrome due to lipoprotein glomerulopathy.
Journal of clinical lipidologyA novel apolipoprotein E mutation (p.Arg150Cys) in a Chinese patient with lipoprotein glomerulopathy.
Chinese medical journalApolipoprotein E in lipoprotein metabolism, health and cardiovascular disease.
PathologyA case of nephrotic syndrome showing contemporary presence of apolipoprotein E2 homozygote glomerulopathy and membranous nephropathy-like findings modified by apolipoprotein E Toyonaka.
Clinical nephrology. Case studiesPathogenesis, histopathologic findings and treatment modalities of lipoprotein glomerulopathy: A review.
Jornal brasileiro de nefrologiaThermodynamic destabilization and aggregation propensity as the mechanism behind the association of apoE3 mutants and lipoprotein glomerulopathy.
Journal of lipid research[Clinicopathologic features of lipoprotein glomerulopathy: observation of 6 cases].
Zhonghua yi xue za zhiMembranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka (Ser197Cys) and a Homozygous Apolipoprotein E2/2.
Case reports in nephrology and dialysisThe Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy.
Journal of atherosclerosis and thrombosisA case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I.
CEN case reportsA Case of Lipoprotein Glomerulopathy with apoE Chicago and apoE (Glu3Lys) Treated with Fenofibrate.
Case reports in nephrology and dialysisApolipoprotein E - A Multifunctional Protein with Implications in Various Pathologies as a Result of Its Structural Features.
Computational and structural biotechnology journalFive-year follow-up of a case of lipoprotein glomerulopathy with APOE Kyoto mutation.
CEN case reportsAtgl deficiency induces podocyte apoptosis and leads to glomerular filtration barrier damage.
The FEBS journal[A case of diagnosing lipoprotein glomerulopathy in Russia].
Arkhiv patologiiSPONTANEOUS LIPOPROTEIN GLOMERULOPATHY-LIKE NEPHROPATHY IN A SQUIRREL (SCIURUS VULGARIS).
Journal of zoo and wildlife medicine : official publication of the American Association of Zoo VeterinariansMacrophage Infiltration into the Glomeruli in Lipoprotein Glomerulopathy.
Case reports in nephrology and dialysisHistiocytic and Nonhistiocytic Glomerular Lesions: Foam Cells and Their Mimickers.
American journal of kidney diseases : the official journal of the National Kidney FoundationUpdate on the molecular biology of dyslipidemias.
Clinica chimica acta; international journal of clinical chemistryLong-term outcome of kidney transplantation in a patient with coexisting lipoprotein glomerulopathy and fibrillary glomerulonephritis.
Clinical kidney journalAssociações
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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.
- Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants.
- Clinical characteristics and APOE variant spectrum in Chinese patients with lipoprotein glomerulopathy.
- Fingerprints of lipoprotein glomerulopathy - An addition to the list of rare diseases in India.
- Identification of a founder haplotype of APOE Kyoto variant in lipoprotein glomerulopathy.
- Post-transplantat recurrence of lipoprotein glomerulopathy: report of 4 cases and literature review.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons· 2025· PMID 40306438mais citado
- A Novel Therapy of Finerenone and Dapagliflozin for Lipoprotein Glomerulopathy.
- A case of lipoprotein glomerulopathy complicated with IgA nephropathy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:329481(Orphanet)
- OMIM OMIM:611771(OMIM)
- MONDO:0012725(MONDO)
- GARD:17504(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q11699959(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
