Raras
Buscar doenças, sintomas, genes...
Síndrome de hiperativação do complemento-trombose angiopática-enteropatia com perda de proteína
ORPHA:566175CID-10 · D84.1CID-11 · DA96.YOMIM 226300DOENÇA RARA

São condições que afetam o intestino, onde há perda de proteínas do sangue pelo sistema digestivo — como a albumina e as imunoglobulinas (que são anticorpos) — e, às vezes, de linfócitos (células de defesa). Em casos graves, isso pode levar à falta de gamaglobulinas (um tipo de anticorpo) ou de linfócitos. Essas doenças intestinais que causam perda de proteína estão ligadas a várias outras condições, incluindo a linfangiectasia intestinal, a doença de Whipple e tumores no intestino delgado.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

São condições que afetam o intestino, onde há perda de proteínas do sangue pelo sistema digestivo — como a albumina e as imunoglobulinas (que são anticorpos) — e, às vezes, de linfócitos (células de defesa). Em casos graves, isso pode levar à falta de gamaglobulinas (um tipo de anticorpo) ou de linfócitos. Essas doenças intestinais que causam perda de proteína estão ligadas a várias outras condições, incluindo a linfangiectasia intestinal, a doença de Whipple e tumores no intestino delgado.

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
Início
Childhood
+ infancy
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D84.1
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
8 sintomas
🩸
Sangue
3 sintomas
🫁
Pulmão
2 sintomas
📏
Crescimento
2 sintomas
🦴
Ossos e articulações
1 sintomas
🛡️
Imunológico
1 sintomas

+ 14 sintomas em outras categorias

Características mais comuns

100%prev.
Nível diminuído de anticorpos circulantes
Frequência: 11/11
100%prev.
Má absorção
Frequência: 11/11
91%prev.
Hipoalbuminemia
Frequência: 10/11
82%prev.
Edema
Frequência: 9/11
82%prev.
Anemia
Frequência: 9/11
73%prev.
Diarreia
Frequência: 8/11
31sintomas
Muito frequente (5)
Frequente (8)
Ocasional (7)
Sem dados (11)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 características clínicas mais associadas, ordenadas por frequência.

Nível diminuído de anticorpos circulantesDecreased circulating antibody level
Frequência: 11/11100%
Má absorçãoMalabsorption
Frequência: 11/11100%
HipoalbuminemiaHypoalbuminemia
Frequência: 10/1191%
Edema
Frequência: 9/1182%
Anemia
Frequência: 9/1182%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos163publicações
Pico201921 papers
Linha do tempo
20202015Hoje · 2026📈 2019Ano de pico
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.

CD55Complement decay-accelerating factorDisease-causing germline mutation(s) inTolerante
FUNÇÃO

This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation. Interaction of daf with cell-associated C4b and C3b polypeptides interferes with their ability to catalyze the conversion of C2 and factor B to enzymatically active C2a and Bb and thereby prevents the formation of C4b2a and C3bBb, the amplification convertases of the complement cascade (PubMed:7525274). Inhibits complem

LOCALIZAÇÃO

Cell membraneSecreted

VIAS BIOLÓGICAS (2)
Regulation of Complement cascadeNeutrophil degranulation
MECANISMO DE DOENÇA

Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy

An autosomal recessive disease characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease. Patients' T lymphocytes show increased complement activation causing surface deposition of complement and the generation of soluble C5a.

OUTRAS DOENÇAS (1)
protein-losing enteropathy
HGNC:2665UniProt:P08174

Variantes genéticas (ClinVar)

47 variantes patogênicas registradas no ClinVar.

🧬 CD55: NM_000574.5(CD55):c.123_286+132del ()
🧬 CD55: NM_000574.5(CD55):c.863dup (p.Thr289fs) ()
🧬 CD55: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 CD55: NM_000574.5(CD55):c.367dup (p.Thr123fs) ()
🧬 CD55: NM_000574.5(CD55):c.147_148delinsAT (p.Glu50Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 14 variantes classificadas pelo ClinVar.

10
2
2
Patogênica (71.4%)
VUS (14.3%)
Benigna (14.3%)
VARIANTES MAIS SIGNIFICATIVAS
CD55: NM_000574.5(CD55):c.367dup (p.Thr123fs) [Pathogenic]
CD55: NM_000574.5(CD55):c.98G>A (p.Trp33Ter) [Pathogenic]
CD55: NM_000574.5(CD55):c.148G>T (p.Glu50Ter) [Pathogenic/Likely pathogenic]
CD55: NM_000574.5(CD55):c.286+2T>G [Likely pathogenic]
CD55: NM_000574.5(CD55):c.287-1G>A [Pathogenic]

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 hiperativação do complemento-trombose angiopática-enteropatia com perda de proteína

🗺️

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

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
0 papers (10 anos)
#1

Hepatic vein angioplasty and stenting in a paediatric patient with Budd-Chiari syndrome secondary to CHAPLE syndrome: is endovascular therapy the answer?

BMJ case reports2026 Jan 07

CHAPLE syndrome is a recently described genetic disorder characterised by dysregulation of the complement pathway, with the acronym standing for 'CD55 deficiency with complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy'. Some patients develop thrombotic complications such as Budd-Chiari syndrome (BCS). Due to its rarity, management guidelines are lacking. We attempted endovascular angioplasty and stenting of the thrombosed right hepatic vein in a male child with BCS secondary to CHAPLE, diagnosed by symptoms and genetic testing. This case is potentially the first documented instance of CHAPLE syndrome associated with BCS in which endovascular therapy was used. The child was on enoxaparin post procedure, and although ascites and effusions initially improved, the stent occluded, necessitating repeat angioplasty and stenting 5 days later. Re-thrombosis occurred despite good intraoperative flow, leading to supportive care to manage symptoms. Our case shows limited benefits of endovascular therapy in such cases.

#2

Familial colorectal cancer: risk factors, screening strategies and personalized medicine.

Cancer genetics2026 Apr

Colorectal cancer (CRC) remains a leading cause of cancer-related mortality worldwide, with approximately 25-30 % of cases exhibiting a familial component driven by germline mutations in DNA mismatch repair genes (Lynch syndrome) or the APC gene (familial adenomatous polyposis). Despite advances in screening and early detection, significant challenges persist in identifying at-risk individuals, optimizing surveillance strategies and addressing disparities in access to genetic testing and preventive care. This narrative review synthesizes current evidence on the genetic underpinnings, modifiable risk factors and personalized screening approaches for familial CRC. We highlight the critical interplay between hereditary predisposition and environmental exposures including diet, obesity, smoking and gut microbiome alterations, which cumulatively influence disease penetrance and clinical outcomes. Emerging predictive models integrating family history, polygenic risk scores and proteomic biomarkers offer unprecedented opportunities for risk stratification, enabling tailored screening initiation and intervals that balance clinical efficacy with cost-effectiveness. Novel non-invasive biomarkers, such as circulating tumor DNA and stool RNA tests, demonstrate promising sensitivity and specificity, potentially enhancing patient adherence while complementing gold-standard colonoscopy. Furthermore, artificial intelligence-assisted endoscopy and comprehensive genetic panels are reshaping precision oncology by improving adenoma detection rates and guiding targeted therapies. Addressing social determinants of health and implementing structured genetic counseling remain essential to achieving equitable CRC prevention. By transitioning from age-based to individualized, risk-adapted screening paradigms, healthcare systems can significantly reduce CRC incidence and mortality, particularly among genetically predisposed populations.

#3

Reconsidering the LARS score: a cross-sectional descriptive study exploring complementary screening approaches for low anterior resection syndrome.

International journal of colorectal disease2026 Feb 28

The LARS score is a practical tool to screen for bowel dysfunction after rectal cancer surgery. However, clinical experience suggests that it may overlook relevant symptoms and/or overestimate impact in some patients. This study aimed to explore whether the International Consensus Definition of LARS complements the LARS score in identifying patients with bowel dysfunction. We conducted a cross-sectional study including patients treated for rectal cancer across two hospitals between January 2021 and December 2024. Demographic and clinical data were collected retrospectively. Functional outcomes were assessed during outpatient follow-up using both the LARS score and the International Consensus Definition criteria. Sixty-two patients were included. According to the LARS score, 39 (62.9%) had "no LARS", 10 (16.1%) "minor LARS" and 13 (21%) "major LARS". Using the International Consensus Definition, 24 (38.7%) met the criteria for LARS. Nine patients (14.5%) were classified differently by the two tools. Five patients classified as "no LARS" by the LARS score met the International Consensus Definition due to unpredictable bowel function and emptying difficulties with a reported impact on daily life. In contrast, four patients with "minor or major LARS" did not meet the International Consensus Definition criteria because no consequences were reported. In this exploratory cross-sectional cohort, the International Consensus Definition did not identify substantially more patients than the LARS score but provided complementary information by linking symptoms to their perceived consequences. Combining both tools may offer a more comprehensive appraisal of LARS until newer multidimensional instruments become available.

#4

Effectiveness comparisons of acupoint stimulation therapies for irritable bowel syndrome: A Bayesian network meta‑analysis.

Complementary therapies in medicine2026 May

Irritable bowel syndrome (IBS) is a chronic functional disorder that significantly impacts patient health, causing physical discomfort and diminished quality of life. We aimed to compare various acupoint stimulation modalities for treating IBS using network meta-analysis (NMA). We conducted a systematic search of five electronic databases (PubMed, Cochrane Central Register of Controlled Trials, Embase, Web of Science, and ClinicalTrials.gov) for randomized controlled trials (RCTs) on acupoint stimulation interventions for IBS published from inception to November 8, 2024, without language restrictions. Two authors independently performed data extraction and assessed the risk of bias. Outcomes included symptom severity and quality of life. Bayesian NMA was conducted using STATA 14.0 and Open BUGS 3.2.3. We identified 12 RCTs that included three different acupoint stimulation interventions (1839 participants)-namely, acupuncture, moxibustion, and placebo. Our NMA results showed that the three acupoint stimulation intervention therapies were effective in reducing symptom severity and improving the quality of life for patients with IBS. The most effective acupoint stimulation intervention was moxibustion, which significantly reduced symptom severity (mean difference [MD] = 101.50; 95 % credible interval [CrI]: 80.36, 122.30) and improved quality of life (MD = -19.75; 95 % CrI: -28.86, -10.75) compared to conventional medication in patients with IBS. Moreover, the adverse events of all interventions were acceptable. The NMA suggests that moxibustion was the most effective modality in alleviating symptom severity and improving quality of life in patients with IBS, followed by acupuncture.

#5

Differential and complementary effects of Baizhu and Fuling on spleen deficiency syndrome by regulating microbiota-gut-metabolite axis.

Phytomedicine : international journal of phytotherapy and phytopharmacology2026 Jan

Atractylodes macrocephala Koidz. (commonly known as Baizhu, BZ) and Poria cocos (Schwan.) Wolf. (referred to as Fuling, FL) are frequently employed in the treatment of spleen deficiency syndrome (SDS) owing to their spleen-tonifying and dampness-eliminating properties. The combination of the two herbs, referred to as the BZ-FL herb pair, exhibited complementary and enhancing effects. Nevertheless, the distinct and complementary mechanisms and effects of BZ and FL individually remain inadequately understood. This study aimed to investigate the differential and complementary effects and underlying mechanisms of BZ and FL on SDS. The chemical components in BZ, FL, and the BZ-FL herb pair were qualitatively and quantitatively analyed using UHPLC-Q Exactive HF-X and UPLC-MS technique. SDS model rats were established by a combination of dietary and fatigue-inducing methods and then treated with BZ, FL, and the BZ-FL herb pair. In order to elucidate the effects on gastrointestinal motility, immune function, and water metabolism, the concentrations of gastrointestinal hormones, low-density lipoprotein, high-density lipoprotein, total cholesterol, serum protein levels, and albumin were measured. Additionally, the levels of IL-2, IgA, IL-4, IgG, and IFN-γ in colon tissue were quantified utilizing enzyme-linked immunosorbent assay (ELISA) and biochemical assays. Pathological changes were examined using hematoxylin and eosin staining, while immunofluorescence was used to measure the levels of the intestinal barrier proteins and aquaporins (Aqps) in colonic tissues. The levels of Aqps and cAMP/PKA/CREB signaling pathway were detected in colon and kidney tissues using western blot analysis. Untargeted metabolomics was used to analyze the serum and feces metabolic profile. The 16S rRNA gene high-throughput sequencing was performed to detect the gut microbiota composition in fecal samples. The quantification of chemical components revealed that BZ significantly enhanced the dissolution of triterpene acids from FL. BZ, FL, and the BZ-FL herb pair effectively mitigated SDS by modulating gastrointestinal hormones, kidney and colon Aqps, and protein expression within the cAMP/PKA/CREB signaling pathway, while also enhancing intestinal barrier integrity. Serum metabolomics analysis demonstrated that BZ influenced bile acid biosynthesis, FL affected the citrate cycle and glycerophospholipid metabolism, and the BZ-FL herb pair impacted all these pathways. Gut microbiota analysis indicated that the efficacy of the BZ-FL herb pair in ameliorating SDS was associated with a preserved gut microbiome, characterized by the relative abundance of microbial taxa such as Escherichia-Shigella, Kurthia, and UCG-005. Fecal metabolomics analysis indicated that the BZ-FL herb pair synergistically enhances and complements each other by influencing metabolites in butanoate, arginine and proline, starch and sucrose, cysteine and methionine, purine, and propanoate metabolism. Moreover, correlation and comprehensive analyses identified a robust association among SDS phenotypes, serum metabolites, fecal metabolites, and microbial genera. In addition, the BZ-FL herb pair and BZ alone exhibited significantly greater regulatory effects on gastrointestinal function-related indicators compared to FL. This study presents initial evidence of the differential and complementary effects of BZ and FL, analyzing their chemical compositions and their influence on water-fluid metabolism and the microbiota-gut-metabolites axis in SDS. These findings reflect the rationality and scientific basis of the compatibility theory. The study identified potential mechanisms of the BZ-FL herb pair in treating SDS, providing a reference for future research and clinical applications.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 163

2026

Familial colorectal cancer: risk factors, screening strategies and personalized medicine.

Cancer genetics
2026

Reconsidering the LARS score: a cross-sectional descriptive study exploring complementary screening approaches for low anterior resection syndrome.

International journal of colorectal disease
2026

Effectiveness comparisons of acupoint stimulation therapies for irritable bowel syndrome: A Bayesian network meta‑analysis.

Complementary therapies in medicine
2026

Hepatic vein angioplasty and stenting in a paediatric patient with Budd-Chiari syndrome secondary to CHAPLE syndrome: is endovascular therapy the answer?

BMJ case reports
2026

Differential and complementary effects of Baizhu and Fuling on spleen deficiency syndrome by regulating microbiota-gut-metabolite axis.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

Treatment of pediatric abdominal pain: what is the evidence?

Expert review of gastroenterology &amp; hepatology
2025

Establishing and validating syndromic surveillance of gastrointestinal infections using routine emergency department data, Germany, 2019-2023.

Scientific reports
2025

An Unusual Gastrointestinal Presentation of Sjogren's Syndrome: A Case Report.

Clinical case reports
2025

Smartphone Application With Health Coaching Facilitates Multi-Symptom Improvement in IBS Patients: A Pilot Feasibility Trial.

Neurogastroenterology and motility
2025

Changji'an formula alleviates visceral hypersensitivity of a post-inflammatory IBS-D mouse model via NGF/TrkA signaling pathway.

BMC complementary medicine and therapies
2025

A rare co-existence of celiac disease and C3 glomerulopathy.

Nefrologia
2025

ILA mitigates HFD-induced metabolic dysfunction via lipid-immune crosstalk and gut microbiota modulation in zebrafish.

Fish &amp; shellfish immunology
2025

Direct letters to relatives at risk of hereditary cancer-a randomised trial on healthcare-assisted versus family-mediated risk disclosure.

European journal of human genetics : EJHG
2025

The road to Rome IV and beyond: Evolution, refinements and future considerations for the Rome criteria for functional gastrointestinal disorders.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology
2025

Polygenic Score Complements Family History and Lynch Syndrome Genes for Predicting Colorectal Cancer Risk.

JCO precision oncology
2025

Complement dysregulation at lymphatics.

The Journal of allergy and clinical immunology
2025

[Sessile serrated lesion with dysplasia and invasion].

Orvosi hetilap
2025

Comprehensive Proteomic Profiling of Exfoliation Glaucoma Via Mass Spectrometry Reveals SVEP1 as a Potential Biomarker.

Investigative ophthalmology &amp; visual science
2025

DIAGNOSIS AND TREATMENT OF SMALL INTESTINAL BACTERIAL OVERGROWTH: AN OFFICIAL POSITION PAPER FROM THE BRAZILIAN FEDERATION OF GASTROENTEROLOGY.

Arquivos de gastroenterologia
2025

Exploring manual therapy in the management of irritable bowel syndrome in adults: A scoping review.

Complementary therapies in medicine
2025

Peripheral GABAA receptors - Physiological relevance and therapeutic implications.

Pharmacology &amp; therapeutics
2024

'I Live With Lynch. Cancer Worry Ebbs Into the Background, Then Something Brings It to the Fore.' A Qualitative Interview Study Exploring How Lynch Syndrome Carriers Make Sense of Their Cancer Risks and Implications to Support Decision Making.

Psycho-oncology
2024

Urgency an important factor when assessing fecal incontinence.

Updates in surgery
2024

How fragile the positive results of Chinese herbal medicine randomized controlled trials on irritable bowel syndrome are?

BMC complementary medicine and therapies
2024

Interplay of yoga, physical activity, and probiotics in irritable bowel syndrome management: A double-blind randomized study.

Complementary therapies in clinical practice
2024

Protein-losing enteropathy as a new phenotype in atypical hemolytic uremic syndrome caused by CD46 gene mutation.

Pediatric nephrology (Berlin, Germany)
2024

Intestinal microflora promotes Th2-mediated immunity through NLRP3 in damp and heat environments.

Frontiers in immunology
2024

Effect of the dietary supplement PERMEAPROTECT+ TOLERANCE© on gut permeability in a human co-culture epithelial and immune cells model.

Heliyon
2024

Classic paroxysmal nocturnal haemoglobinuria presenting with intestinal malabsorption syndrome, acute abdomen and acute kidney injury.

BMJ case reports
2024

Hypnotherapy as a medical treatment: Evidence-based or pseudoscience?

Complementary therapies in clinical practice
2024

Intestinal microbiota programming of alveolar macrophages influences severity of respiratory viral infection.

Cell host &amp; microbe
2023

ATR inhibition induces synthetic lethality in mismatch repair-deficient cells and augments immunotherapy.

Genes &amp; development
2023

Acupuncture as an adjunctive therapy for gastric ulcer: A modified Delphi consensus study.

Complementary therapies in medicine
2023

Guardians of Immunity: Advances in Primary Immunodeficiency Disorders and Management.

Cureus
2023

Reduced intestinal lipid absorption improves glucose metabolism in aged G2-Terc knockout mice.

BMC biology
2023

Plant Polyphenols as Inhibitors of Hydrolases are Regulators of Digestion.

Complementary medicine research
2023

Where does capsule endoscopy fit in the diagnostic algorithm of small bowel intussusception?

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
2023

Analysis of gut microbiota in patients with Williams-Beuren Syndrome reveals dysbiosis linked to clinical manifestations.

Scientific reports
2023

Clinical efficacy of one-finger meditation massage on IBS-C based on the "gut-brain axis" theory: study protocol for a randomized controlled trial.

BMC complementary medicine and therapies
2023

Protein-losing enteropathy as the first presentation of systemic lupus erythematosus: A case report from Sudan.

Clinical case reports
2023

Antibody response in children with multisystem inflammatory syndrome related to COVID-19 (MIS-C) compared to children with uncomplicated COVID-19.

Frontiers in immunology
2023

Qixue Shuangbu decoction and acupuncture combined with Western medicine in acute severe stroke patients.

World journal of clinical cases
2023

Description of novel capsule biosynthesis loci of Campylobacter jejuni clinical isolates from South and South-East Asia.

PloS one
2023

Disease activity in patients with immune-mediated inflammatory diseases after SARS-CoV-2 vaccinations.

Journal of autoimmunity
2023

A case of systemic lupus erythematosus presenting with intestinal lymphangiectasia-associated protein-losing enteropathy accompanying hyperinflammation.

International journal of rheumatic diseases
2022

Obesity Contributes to Inflammation in Patients with IBS via Complement Component 3 and C-Reactive Protein.

Nutrients
2022

Preoperative Biologics Exposure Predisposes Ulcerative Colitis Patients to a Distinct Delayed Postoperative Ileus Syndrome After Colectomy.

Medical science monitor : international medical journal of experimental and clinical research
2022

Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report.

Journal of ovarian research
2023

Effects of Modified Baizhu Shaoyao San on Postoperative Diarrhea in Colorectal Cancer Patients: A Single-Blind, Randomized Controlled Trial.

Complementary medicine research
2022

The immune response as a therapeutic target in non-alcoholic fatty liver disease.

Frontiers in immunology
2022

Functional gastrointestinal disorders in children: Effectivity, safety, and tolerability of the herbal preparation STW-5 (Iberogast®) in general practice.

Complementary therapies in medicine
2022

Intestinal Injury in Ugandan Children Hospitalized With Malaria.

The Journal of infectious diseases
2022

Biomarkers of Metabolomics in Inflammatory Bowel Disease and Damp-Heat Syndrome: A Preliminary Study.

Evidence-based complementary and alternative medicine : eCAM
2022

Assessing the post-treatment therapeutic effect of tongxie in irritable bowel syndrome: A randomized controlled trial.

Complementary therapies in medicine
2022

Genomewide CRISPR knockout screen identified PLAC8 as an essential factor for SADS-CoVs infection.

Proceedings of the National Academy of Sciences of the United States of America
2023

CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a-) variant.

Human genetics
2022

Autologous gastrointestinal reconstruction surgery for short bowel syndrome: the cornerstone for intestinal rehabilitation.

Current opinion in organ transplantation
2022

Huangqi-Honghua Combination Prevents Cerebral Infarction with Qi Deficiency and Blood Stasis Syndrome in Rats by the Autophagy Pathway.

Evidence-based complementary and alternative medicine : eCAM
2022

Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants.

Familial cancer
2022

Moxibustion for diarrhea-predominant irritable bowel syndrome: A systematic review and meta-analysis of randomized controlled trials.

Complementary therapies in clinical practice
2022

Ex vivo and in vivo suppression of SARS-CoV-2 with combinatorial AAV/RNAi expression vectors.

Molecular therapy : the journal of the American Society of Gene Therapy
2022

An enriched environment reduces chronic stress-induced visceral pain through modulating microglial activity in the central nucleus of the amygdala.

American journal of physiology. Gastrointestinal and liver physiology
2021

DDX3X and DDX3Y are redundant in protein synthesis.

RNA (New York, N.Y.)
2022

Complement and the prothrombotic state.

Blood
2021

Effects of yoga in inflammatory bowel diseases and on frequent IBD-associated extraintestinal symptoms like fatigue and depression.

Complementary therapies in clinical practice
2021

Antihyperuricemic Effect of Dendropanax morbifera Leaf Extract in Rodent Models.

Evidence-based complementary and alternative medicine : eCAM
2021

Atypical HUS and Crohn's disease-interference of intestinal disease activity with complement-blocking treatment.

Pediatric nephrology (Berlin, Germany)
2021

Combined Gemcitabine and Immune-Checkpoint Inhibition Conquers Anti-PD-L1 Resistance in Low-Immunogenic Mismatch Repair-Deficient Tumors.

International journal of molecular sciences
2021

Dietary Practices of Women with Endometriosis: A Cross-Sectional Survey.

Journal of alternative and complementary medicine (New York, N.Y.)
2022

Intestinal Abnormalities in Patients With SARS-CoV-2 Infection: Histopathologic Changes Reflect Mechanisms of Disease.

The American journal of surgical pathology
2021

Distinct clinical and genetic mutation characteristics in sporadic and Lynch syndrome-associated endometrial cancer in a Chinese population.

Cancer epidemiology
2021

Amygdala microglia modify neuronal plasticity via complement C1q/C3-CR3 signaling and contribute to visceral pain in a rat model.

American journal of physiology. Gastrointestinal and liver physiology
2021

The effect of pro/synbiotics on postoperative infections in colorectal cancer patients: A systematic review and meta-analysis.

Complementary therapies in clinical practice
2021

Written expressive disclosure in adults with irritable bowel syndrome: A randomized controlled trial.

Complementary therapies in clinical practice
2021

Multi-compartment metabolomics and metagenomics reveal major hepatic and intestinal disturbances in cancer cachectic mice.

Journal of cachexia, sarcopenia and muscle
2021

Systematic review, meta-analysis with subgroup analysis of hypnotherapy for irritable bowel syndrome, effect of intervention characteristics.

Complementary therapies in medicine
2021

Efficacy of a curcumin extract (Curcugen™) on gastrointestinal symptoms and intestinal microbiota in adults with self-reported digestive complaints: a randomised, double-blind, placebo-controlled study.

BMC complementary medicine and therapies
2020

Practitioners' experiences of using Gut Directed Hypnosis for irritable bowel syndrome: Perceived impact upon client wellbeing: A qualitative study.

Complementary therapies in medicine
2020

The Gut Barrier, Intestinal Microbiota, and Liver Disease: Molecular Mechanisms and Strategies to Manage.

International journal of molecular sciences
2021

Alternative Treatment Approaches to Small Intestinal Bacterial Overgrowth: A Systematic Review.

Journal of alternative and complementary medicine (New York, N.Y.)
2020

Patterns of Mycobacterium avium-intracellulare complex infection in duodenal endoscopic biopsies in HIV/AIDS patients.

Annals of diagnostic pathology
2020

A systematic review of Tuina for irritable bowel syndrome: Recommendations for future trials.

Complementary therapies in medicine
2020

Ginger relieves intestinal hypersensitivity of diarrhea predominant irritable bowel syndrome by inhibiting proinflammatory reaction.

BMC complementary medicine and therapies
2020

Unique genomic and neoepitope landscapes across tumors: a study across time, tissues, and space within a single lynch syndrome patient.

Scientific reports
2021

Now Trending: Using Google Trends to Complement Traditional Epidemiological Methods Used for IBS Research.

Digestive diseases and sciences
2021

Neonatal thrombotic microangiopathy secondary to factor I variant with Hirschsprung disease.

Journal of nephrology
2021

Utilizing Google Trends to Assess Worldwide Interest in Irritable Bowel Syndrome and Commonly Associated Treatments.

Digestive diseases and sciences
2020

Mind-body treatments of irritable bowel syndrome symptoms: An updated meta-analysis.

Behaviour research and therapy
2020

Vitamin D3 Supplementation in Diarrhea-Predominant Irritable Bowel Syndrome Patients: The Effects on Symptoms Improvement, Serum Corticotropin-Releasing Hormone, and Interleukin-6 - A Randomized Clinical Trial.

Complementary medicine research
2020

Effects of curcuminoids on inflammatory status in patients with non-alcoholic fatty liver disease: A randomized controlled trial.

Complementary therapies in medicine
2020

Translational Advances in Pediatric Nutrition and Gastroenterology: New Insights from Pig Models.

Annual review of animal biosciences
2020

Western herbal medicines in the treatment of irritable bowel syndrome: A systematic review and meta-analysis.

Complementary therapies in medicine
2020

Endocannabinoid system in irritable bowel syndrome and cannabis as a therapy.

Complementary therapies in medicine
2020

Insights into the pathogenesis of catastrophic antiphospholipid syndrome. A case report of relapsing catastrophic antiphospholipid syndrome and review of the literature on ischemic colitis.

Clinical rheumatology
2019

Vitamin D in inflammatory bowel disease: From biology to clinical implications.

Complementary therapies in medicine
2019

Tong-Xie-Yao-Fang improves intestinal permeability in diarrhoea-predominant irritable bowel syndrome rats by inhibiting the NF-κB and notch signalling pathways.

BMC complementary and alternative medicine
2020

Eculizumab treatment of thrombotic microangiopathy in a patient with ulcerative colitis.

Clinical journal of gastroenterology
2019

Intestinal proteomic analysis of a novel non-human primate model of experimental colitis reveals signatures of mitochondrial and metabolic dysfunction.

Mucosal immunology
2019

Intestinal Permeability and IgA Provoke Immune Vasculitis Linked to Cardiovascular Inflammation.

Immunity
2019

An Unusual Case of Clostridium Difficile Colitis and Hemolytic Uremic Syndrome in a Teenager.

South Dakota medicine : the journal of the South Dakota State Medical Association
2019

Efficacy and safety of Achillea wilhelmsii C. Koch capsules on symptom severity and quality of life in patients with irritable bowel syndrome: a randomized, placebo-controlled clinical trial.

Journal of complementary &amp; integrative medicine
2019

Effects of probiotic supplementation on post-infectious irritable bowel syndrome in rodent model.

BMC complementary and alternative medicine
2019

Atypical hemolytic uremic syndrome in a patient with protein-losing enteropathy.

The Journal of international medical research
2019

How do people with refractory irritable bowel syndrome perceive hypnotherapy?: Qualitative study.

Complementary therapies in medicine
2019

Assessment of the effect of sachet formulation of almond (Amygdalus dulcis L.) on diarrhea prominent irritable bowel syndrome (IBS-D) symptoms: A clinical trial.

Complementary therapies in medicine
2019

The Intervention Effect of Traditional Chinese Medicine on the Intestinal Flora and Its Metabolites in Glycolipid Metabolic Disorders.

Evidence-based complementary and alternative medicine : eCAM
2019

An open-label randomized pragmatic non-inferiority pilot trial to compare the effectiveness of Dysentery compound with individualized homeopathic medicines in irritable bowel syndrome.

Journal of complementary &amp; integrative medicine
2019

Haemolytic uraemic syndrome associated with non shiga toxin-producing Escherichia coli bacteraemia: a case report.

BMC nephrology
2019

Probiotics, prebiotics, and low FODMAP diet for irritable bowel syndrome - What is the current evidence?

Complementary therapies in medicine
2019

The impact of peppermint oil on the irritable bowel syndrome: a meta-analysis of the pooled clinical data.

BMC complementary and alternative medicine
2018

Dietary geraniol ameliorates intestinal dysbiosis and relieves symptoms in irritable bowel syndrome patients: a pilot study.

BMC complementary and alternative medicine
2019

CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease.

Immunological reviews
2018

Hemolytic uremic syndrome: differential diagnosis with the onset of inflammatory bowel diseases.

Acta bio-medica : Atenei Parmensis
2018

An integrative review of dietetic and naturopathic approaches to functional bowel disorders.

Complementary therapies in medicine
2019

Severe necrotizing myositis associated with long term anti-neoplastic efficacy following nivolumab plus ipilimumab combination therapy.

Clinical rheumatology
2018

Evaluation of the effect of Lactobacillus reuteri V3401 on biomarkers of inflammation, cardiovascular risk and liver steatosis in obese adults with metabolic syndrome: a randomized clinical trial (PROSIR).

BMC complementary and alternative medicine
2019

New insight into antiphospholipid syndrome: antibodies to β2glycoprotein I-domain 5 fail to induce thrombi in rats.

Haematologica
2019

Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency.

Journal of pediatric gastroenterology and nutrition
2018

Are personalized tongxie formula based on diagnostic analyses more effective in reducing IBS symptoms?-A randomized controlled trial.

Complementary therapies in medicine
2019

Naturopathic Approaches to Irritable Bowel Syndrome-A Delphi Study.

Journal of alternative and complementary medicine (New York, N.Y.)
2018

Reduced Symptoms of Post-Traumatic Stress Disorder and Irritable Bowel Syndrome Following Mindfulness-Based Stress Reduction Among Veterans.

Journal of alternative and complementary medicine (New York, N.Y.)
2018

Pharmacogenetic analyses of 2183 patients with advanced colorectal cancer; potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy.

European journal of cancer (Oxford, England : 1990)
2018

Donor-Specific Antibodies in Pediatric Intestinal and Multivisceral Transplantation: The Role of Liver and Human Leukocyte Antigen Mismatching.

Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society
2018

[Twenty-year follow-up study of antiglycolipid antibodies and electrophysiological findings in a 36-year-old patient with an axonal variant of Guillain-Barré syndrome].

Rinsho shinkeigaku = Clinical neurology
2019

Ulcerative Colitis and Atypical Hemolytic-Uremic Syndrome: An Unusual But Potentially Life-threatening Complication.

Inflammatory bowel diseases
2018

A methodological framework for the evaluation of syndromic surveillance systems: a case study of England.

BMC public health
2018

Protease signaling through protease activated receptor 1 mediate nerve activation by mucosal supernatants from irritable bowel syndrome but not from ulcerative colitis patients.

PloS one
2018

Plasma metabolic profiling on postoperative colorectal cancer patients with different traditional Chinese medicine syndromes.

Complementary therapies in medicine
2017

Echocardiography in functional midgut neuroendocrine tumors: When and how often.

Reviews in endocrine &amp; metabolic disorders
2018

AAPT Diagnostic Criteria for Chronic Abdominal, Pelvic, and Urogenital Pain: Irritable Bowel Syndrome.

The journal of pain
2017

Severe intestinal dysbiosis is prevalent in primary Sjögren's syndrome and is associated with systemic disease activity.

Arthritis research &amp; therapy
2017

[Hemolytic and uremic syndrome and related thrombotic microangiopathies: Treatment and prognosis].

La Revue de medecine interne
2018

Case Study of Homeopathic Bowel Nosode Remedies for Dysbiotic Japanese Patients.

Journal of alternative and complementary medicine (New York, N.Y.)
2017

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

The New England journal of medicine
2017

Successful Treatment of Acute Radiation Proctitis with Aloe Vera: A Preliminary Randomized Controlled Clinical Trial.

Journal of alternative and complementary medicine (New York, N.Y.)
2017

[Homöopathisch-phytotherapeutische Behandlung des Reizdarmsyndroms mit Magen-Darm-Entoxin N®: Eine Anwendungsbeobachtung].

Complementary medicine research
2017

AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS).

Archives of gynecology and obstetrics
2017

Eculizumab in secondary atypical haemolytic uraemic syndrome.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2017

Managing irritable bowel syndrome: The impact of micro-physiotherapy.

Journal of complementary &amp; integrative medicine
2017

Prenatal diagnosis and outcome of fetal gastrointestinal obstruction.

Journal of pediatric surgery
2017

Diagnostic Utility of Complement Immunohistochemical Studies in Post-Stem Cell Transplant Intestinal Thrombotic Microangiopathy: Case Report.

Journal of pediatric hematology/oncology
2016

36th International Symposium on Intensive Care and Emergency Medicine : Brussels, Belgium. 15-18 March 2016.

Critical care (London, England)
2016

Moxibustion treatment for diarrhea-predominant irritable bowel syndrome: study protocol for a randomized controlled trial.

BMC complementary and alternative medicine
2016

Refractory Depression, Fatigue, Irritable Bowel Syndrome, and Chronic Pain: A Functional Medicine Case Report.

The Permanente journal
2016

A Systematic Review on Sasang Constitutional Type-Associated Susceptibility to Disorders in Korea.

Journal of alternative and complementary medicine (New York, N.Y.)
2017

Management of short bowel syndrome in postoperative very low birth weight infants.

Seminars in fetal &amp; neonatal medicine
2016

Progress in Our Understanding of the Gut Microbiome: Implications for the Clinician.

Current gastroenterology reports
2016

Complement component 6 deficiency increases susceptibility to dextran sulfate sodium-induced murine colitis.

Immunobiology
2016

Extrarenal Manifestations in Shigatoxin-associated Haemolytic Uremic Syndrome.

Klinische Padiatrie
2016

Efficacy and safety of Ayurvedic herbs in diarrhoea-predominant irritable bowel syndrome: A randomised controlled crossover trial.

Complementary therapies in medicine
2016

RNA-seq analysis of early enteromyxosis in turbot (Scophthalmus maximus): new insights into parasite invasion and immune evasion strategies.

International journal for parasitology
2016

The Mexican consensus on irritable bowel syndrome.

Revista de gastroenterologia de Mexico
2016

Activation of Myenteric Glia during Acute Inflammation In Vitro and In Vivo.

PloS one
2015

A Hispanic female patient with heartburn: A rare presentation of Paroxysmal Nocturnal Hemoglobinuria.

Boletin de la Asociacion Medica de Puerto Rico
2015

Self-Medication of Somatic and Psychiatric Conditions Using Botanical Marijuana.

Journal of psychoactive drugs
2015

"Ninjinto" (Ginseng Decoction), a Traditional Japanese Herbal Medicine, Improves Gastrointestinal Symptoms and Immune Competence in Patients with Chronic Intestinal Failure.

Evidence-based complementary and alternative medicine : eCAM
2015

Electro-acupuncture decreases 5-HT, CGRP and increases NPY in the brain-gut axis in two rat models of Diarrhea-predominant irritable bowel syndrome(D-IBS).

BMC complementary and alternative medicine
2015

Cardiac and skeletal muscles show molecularly distinct responses to cancer cachexia.

Physiological genomics
2015

Pharmacological Studies of Artichoke Leaf Extract and Their Health Benefits.

Plant foods for human nutrition (Dordrecht, Netherlands)
2017

Teduglutide-Stimulated Intestinal Adaptation Is Complemented and Synergistically Enhanced by Partial Enteral Nutrition in a Neonatal Piglet Model of Short Bowel Syndrome.

JPEN. Journal of parenteral and enteral nutrition
2015

Experiences of healing therapy in patients with irritable bowel syndrome and inflammatory bowel disease.

BMC complementary and alternative medicine
2015

Gastroenterology issues in schizophrenia: why the gut matters.

Current psychiatry reports
2015

The networks of human gut microbe-metabolite associations are different between health and irritable bowel syndrome.

The ISME journal

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Hepatic vein angioplasty and stenting in a paediatric patient with Budd-Chiari syndrome secondary to CHAPLE syndrome: is endovascular therapy the answer?
    BMJ case reports· 2026· PMID 41500711mais citado
  2. Familial colorectal cancer: risk factors, screening strategies and personalized medicine.
    Cancer genetics· 2026· PMID 41771225mais citado
  3. Reconsidering the LARS score: a cross-sectional descriptive study exploring complementary screening approaches for low anterior resection syndrome.
    International journal of colorectal disease· 2026· PMID 41762235mais citado
  4. Effectiveness comparisons of acupoint stimulation therapies for irritable bowel syndrome: A Bayesian network meta&#x2011;analysis.
    Complementary therapies in medicine· 2026· PMID 41707883mais citado
  5. Differential and complementary effects of Baizhu and Fuling on spleen deficiency syndrome by regulating microbiota-gut-metabolite axis.
    Phytomedicine : international journal of phytotherapy and phytopharmacology· 2026· PMID 41435605mais citado
  6. Mast cell mediators in hereditary angioedema.
    Orphanet J Rare Dis· 2026· PMID 41832580recente
  7. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    Int J Mol Sci· 2026· PMID 41828453recente
  8. Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
    Orphanet J Rare Dis· 2026· PMID 41827036recente
  9. The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
    Orphanet J Rare Dis· 2026· PMID 41821052recente
  10. Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
    Orphanet J Rare Dis· 2026· PMID 41821046recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:566175(Orphanet)
  2. OMIM OMIM:226300(OMIM)
  3. MONDO:0009174(MONDO)
  4. GARD:15003(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55647681(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 hiperativação do complemento-trombose angiopática-enteropatia com perda de proteína

ORPHA:566175 · MONDO:0009174
Prevalência
<1 / 1 000 000
Herança
Autosomal recessive
CID-10
D84.1 · Defeitos no sistema complemento
CID-11
Início
Childhood, Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4538570
Repurposing
6 candidatos
dextrancyclooxygenase inhibitor|platelet aggregation inhibitor
indobufenadrenergic receptor antagonist
nicergolinevitamin K antagonist
+3 outros
Wikidata
Evidência
🥉 Relato de caso
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