ABSTRACT
BACKGROUND: The Fontan procedure is considered one of the most remarkable achievements in paediatric cardiology and cardiac surgery. Its final anatomical objective is a venous return through the superior and inferior vena cava. The complications inherent to this procedure and subsequent failure are its limitations. OBJECTIVE: To describe the clinical and haemodynamic characteristics of patients with Fontan failure and define the risk factors associated with it, with its short- and long-term outcomes during a 21-year observation period. METHODS: This is a retrospective follow-up study in which 15 patients diagnosed with Fontan failure in the single-ventricle programme of a high-complexity hospital in Medellín, Colombia, between 2001 and 2022 were included. RESULTS: One hundred and eight patients were identified in whom the Fontan procedure was performed, and 17 met the failure criteria. 82.4% were men, with a median age of 4.3 years. Ebstein's anomaly was the most common diagnosis, 29.4%. All patients underwent Fontan with an extracardiac tube following the procedure. According to the type of failure, 58.8% of patients presented protein-losing enteropathy and 17.6% plastic bronchitis. During follow-up, 5.9% of patients died. CONCLUSION: Fontan surgery in our centre is an option for patients with univentricular physiology. The correct selection of the patient is essential to mitigate failure risks.
Subject(s)
Fontan Procedure , Heart Defects, Congenital , Protein-Losing Enteropathies , Child , Male , Humans , Child, Preschool , Female , Fontan Procedure/adverse effects , Fontan Procedure/methods , Colombia/epidemiology , Follow-Up Studies , Retrospective Studies , Heart Defects, Congenital/surgery , Heart Defects, Congenital/complications , Risk Factors , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Protein-Losing Enteropathies/etiologySubject(s)
Choroidal Effusions , Lymphangiectasis, Intestinal , Protein-Losing Enteropathies , Retinal Detachment , Humans , Protein-Losing Enteropathies/complications , Protein-Losing Enteropathies/diagnosis , Retinal Detachment/diagnosis , Retinal Detachment/etiology , Lymphangiectasis, Intestinal/complications , Lymphangiectasis, Intestinal/diagnosisABSTRACT
Abstract Background: Fontan circulation can be associated with significant morbidity, especially Protein-Losing Enteropathy (PLE). Echocardiographic parameters can provide valuable diagnostic information about a patient's risk of developing PLE after Fontan surgery. Objectives: To describe echocardiographic/ultrasonographic parameters associated with PLE in patients after Fontan surgery through a systematic review with meta-analysis. Methods: A literature search was performed in electronic databases to identify relevant studies about echocardiographic parameters and PLE prediction in children after Fontan surgery. The search terms used were: "echocardiography", "ultrasonography", "Fontan," and "protein-losing enteropathy". A p < 0.05 was considered statistically significant. Results: A total of 653 abstracts were obtained from electronic databases and bibliographic references. From these, six articles met criteria to be included in the qualitative analysis and three in the quantitative (meta-analysis). The resistance index in the superior mesenteric artery was described in three studies, and the quantitative analysis showed statistical significance (p < 0.001). Other echocardiographic and ultrasonographic parameters were also described, albeit in single studies not allowing a meta-analysis. Conclusion: This systematic review with meta-analysis identified echocardiographic and ultrasonographic parameters related to PLE in patients with Fontan physiology. Vascular ultrasonography seems to play a prominent role in this aspect, but additional studies are needed to increase the degree of evidence.
Subject(s)
Humans , Male , Female , Protein-Losing Enteropathies/diagnostic imaging , Fontan Procedure/methods , Echocardiography/methods , Ultrasonography/methods , Fontan Procedure/adverse effectsABSTRACT
OBJECTIVE: To evaluate growth in a population of patients with Fontan circulation. STUDY DESIGN: We performed a cross-sectional evaluation of patients followed in our multidisciplinary Fontan clinic from January 2011 through August 2015. We reviewed the historical data, anthropometry, clinical, and laboratory studies and performed bivariate and multivariate analysis of factors associated with height z score. RESULTS: Patients (n = 210) were included in the study at median age 11.07 years (8.3, 14.73 years) (43% female); 138 (65%) had a dominant right systemic ventricle and 92 (44%) hypoplastic left heart syndrome. Median age at completion of Fontan circulation was 31 months (7.6, 135.8 months). Median height z score was -0.58 (-1.75, 0.26). Twenty-five (12%) had current or past history of protein-losing enteropathy (PLE). Median height z score for those with current or past history of PLE was -2.1 (-2.46, 1.24). Multivariate analysis revealed positive associations between height z score and body mass index z score, time since Fontan, mid-parental height, dominant systemic ventricle type, and serum alkaline phosphatase. Height correlated negatively with known genetic syndrome, PLE, use of stimulant or oral steroid medication. CONCLUSIONS: Children with Fontan circulation have mild deficits in height, with greater deficits in those with PLE. Height z score improves with time postsurgery. Improving weight, leading to improved body mass index, may be a modifiable factor that improves growth in those who are underweight. Biochemical markers may be helpful screening tests for high-risk groups in whom to intensify interventions.
Subject(s)
Fontan Procedure/adverse effects , Growth and Development , Protein-Losing Enteropathies/etiology , Adolescent , Body Height , Body Weight , Child , Cross-Sectional Studies , Female , Heart Ventricles/abnormalities , Heart Ventricles/surgery , Humans , Male , Retrospective StudiesABSTRACT
The association between Sjögren's syndrome (SS) and protein-losing enteropathy (PLE) was scarcly reported. To analyze the clinical, therapeutic, and outcome characteristics of patients with SS and PLE and also to delineate the potential mechanisms and pathways connecting the gut to SS targeted organ's pathology. Systematic screening was conducted using PubMed/MEDLINE, LILACS, SciELO, Web of Science, and Cochrane, dating 1980 to 2020. SS and PLE were the key words. Eighteen patients with SS and PLE were summarized. The patient's ages ranged between 20 and 88 years, and only 4 were males. Primary SS was observed in most cases. Anti-Ro was detected in 100% of the cases while anti-La was reported in 64% of them. The clinical manifestations were protein loss, edema of the lower limbs, pleural effusion, ascites, facial edema, anasarca, diarrhea, and weight loss. Among these clinical manifestations, edema of the lower limbs was the most severe. Albumin concentration was 0.9-3.4 g/dL which increased to 2.8-4.3 g/dL after treatment. Small bowel biopsy was performed in all of the cases. Concerning the therapy, all the patients received systemic glucocorticoids. All of them improved. The period of onset of improvement ranged from 3 weeks to 36 months (an average of 3 months). The early diagnosis and appropriate therapy of PLE in patients with anti-Ro positive SS and who present edema, anasarca, or hypoalbuminemia is vital for a beneficial outcome. An excellent clinical improvement in all the cases was observed when treated early enough by cortico-therapy, thus preventing patient's deterioration, complications, and reducing morbidity and potential mortality.
Subject(s)
Protein-Losing Enteropathies , Sjogren's Syndrome , Adult , Aged , Aged, 80 and over , Biopsy , Female , Glucocorticoids , Humans , Male , Middle Aged , Protein-Losing Enteropathies/complications , Protein-Losing Enteropathies/diagnosis , Protein-Losing Enteropathies/therapy , Sjogren's Syndrome/complications , Sjogren's Syndrome/drug therapy , Young AdultABSTRACT
Resumen La tríada de Herbst es una manifestación inusual de la enfermedad por reflujo gastroesofágico y de otras patologías esofágicas. Se caracteriza por la presencia de anemia, acropaquias (hipocratismo digital) y enteropatía perdedora de proteínas. Al ser una condición anecdótica, la información disponible deriva de los reportes de caso. La fisiopatología aún no es clara. Se reporta el caso de una escolar, en quien se revierten los síntomas una vez se realiza el manejo quirúrgico.
Abstract The Herbst triad is a rare manifestation of gastroesophageal reflux disease and other esophageal pathologies. It is characterized by the presence of anemia, digital clubbing, and protein-losing enteropathy. Since evidence on this condition is anecdotal, the available information is mostly derived from case reports and its physiopathology remains unclear. The following is the case of a schoolchild, whose symptoms were reversed once she underwent surgery.
Subject(s)
Humans , Female , Child , Gastroesophageal Reflux , Pathology , Protein-Losing Enteropathies , Signs and Symptoms , AnemiaABSTRACT
Nonsteroidal anti-inflammatory drug (NSAID)-induced enteropathy is considered a serious and increasing clinical problem without available treatment. Glycomacropeptide (GMP) is a 64-amino acid peptide derived from milk κ-casein with numerous biological activities. The aim of this study was to investigate the protective effect of GMP on NSAID enteropathy in rats. Enteropathy was induced by seven days oral indomethacin administration. Rats were orally GMP treated from seven days previous and during the establishment of the enteropathy model. Changes in metabolism, hematological and biochemical blood alterations, intestinal inflammation and oxidative damage were analyzed. Integrity barrier markers, macroscopic intestinal damage and survival rate were also evaluated. GMP treatment prevented anorexia and weight loss in animals. Furthermore, prophylaxis with GMP ameliorated the decline in hemoglobin, hematocrit, albumin and total protein levels. The treatment had no therapeutic efficacy on the decrease of occludin and mucin (MUC)-2 expression in intestinal tissue. However, GMP markedly decreased neutrophil infiltration, and CXCL1, interleukin-1ß and inducible nitric oxide synthase expression. Nitric oxide production and lipid hydroperoxide level in the small intestine were also diminished. These beneficial effects were mirrored by preventing ulcer development and increasing animal survival. These results suggest that GMP may protect against NSAID enteropathy through anti-inflammatory and antioxidant properties.
Subject(s)
Caseins/chemistry , Inflammation/drug therapy , Oxidative Stress/drug effects , Peptide Fragments/chemistry , Protein-Losing Enteropathies/drug therapy , Animals , Caseins/pharmacology , Chemokine CXCL1/genetics , Disease Models, Animal , Gene Expression Regulation/drug effects , Humans , Indomethacin/toxicity , Inflammation/chemically induced , Inflammation/complications , Inflammation/pathology , Interleukin-1beta/genetics , Intestinal Mucosa , Milk Proteins/chemistry , Milk Proteins/pharmacology , Mucin-2/genetics , Nitric Oxide Synthase Type II/genetics , Peptide Fragments/pharmacology , Protein-Losing Enteropathies/chemically induced , Protein-Losing Enteropathies/complications , Protein-Losing Enteropathies/genetics , RatsABSTRACT
Resumen La enfermedad de Ménétrier, también conocida como gastritis hipertrófica gigante o gastropatía hipertrófica hipoproteinémica, es una entidad poco frecuente, caracterizada por una gastroenteropatía perdedora de proteínas, hipoclorhidria y engrosamiento de los pliegues mucosos del fondo y el cuerpo gástrico; es causante de un grupo clásico de síntomas que incluyen náuseas, vómitos, dolor abdominal y edema periférico; se asocia con un mayor riesgo de cáncer gástrico, sin embargo, su fisiopatología aún no está del todo esclarecida y su diagnóstico, clínico y endoscópico, puede llegar a ser difícil de establecer, por lo que se describe un caso clínico y se presenta una revisión sucinta de la literatura.
Abstract Menetrier disease (also known as giant hypertrophic gastritis or hypoproteinemic hypertrophic gastropathy) is a rare entity characterized by protein losing enteropathy, hypochlorhydria and thickening of the mucosal folds of the fundus and the gastric corpus. Its constellation of classic symptoms includes nausea, vomiting, abdominal pain and peripheral edema, and it is associated with increased risk of gastric cancer. Nevertheless, its pathophysiology is not yet fully understood and clinical and endoscopic diagnosis can be difficult to establish. This article describes a clinical case and provides a brief review of the literature.
Subject(s)
Humans , Male , Adult , Gastritis, Hypertrophic , Protein-Losing Enteropathies , Vomiting , Abdominal Pain , NauseaABSTRACT
La enfermedad de Ménétrier es una gastroenteropatía perdedora de proteínas. Definida como una entidad rara y de causa desconocida, la mayoría de los casos reportados la han asociado a infecciones virales. En los pacientes pediátricos, presenta un comienzo agudo con un curso benigno y autolimitado. Se caracteriza por tener pliegues gástricos engrosados que, generalmente, involucran el cuerpo y el fundus gástrico, asociados a hipoalbuminemia, debido a la pérdida de proteína sérica a través de la mucosa. A continuación, se exponen dos casos clínicos de síndrome de Ménétrier infantil asociado a infección por citomegalovirus.
Ménétrier's disease is a protein losing gastroenteropathy. Defined as a rare entity with an unknown cause, most of the reported cases have been associated with viral infections. In pediatric patients, it is characterized by an acute onset with a benign and self-limiting course. It is characterized by thickened gastric folds that generally involve the body and the gastric fundus, associated with hypoalbuminemia due to the loss of serum protein through the mucosa. The following are two clinical cases of infant Ménétrier syndrome associated with cytomegalovirus infection.
Subject(s)
Humans , Male , Infant , Child, Preschool , Protein-Losing Enteropathies , Stomach Diseases , Cytomegalovirus , Gastritis, HypertrophicABSTRACT
OBJECTIVES: To examine the phenotypes and perform next-generation sequencing in children with early-onset protein-losing enteropathy. STUDY DESIGN: We performed a retrospective review of 27 children with early-onset protein-losing enteropathy. Patients were characterized on clinical, immunologic, and systemic involvements. Targeted gene panel sequencing and whole-exome sequencing were performed in 9 patients. RESULTS: In 27 patients (55.6% male), median age of disease onset was 173 days, and 59.3% had onset of disease before 1 year of age. Initial gastrointestinal symptoms included diarrhea (74.1%), vomiting (33.3%), and abdominal distention (48.1%). All patients had hypoalbuminemia, with an average serum albumin concentration of 20.2 ± 5.4 g/L. Hypogammaglobulinemia was identified in 72% of the patients. Upper endoscopy showed typical presentation of intestinal lymphangiectasia (n = 13). Patients frequently received intravenous albumin and immunoglobulin infusions as well as parenteral nutrition. Next-generation sequencing in 9 patients with available DNA showed 1 patient had compound heterozygous CCBE1 mutations and 2 had novel homozygous DGAT1 mutations. Monogenic diseases were identified in 3 of 9 patients who underwent genetic sequencing. Three subjects (11.1%) died, of whom 2 had homozygous DGAT1 mutations. No significant correlation was found between age of symptom onset, serum albumin, serum IgG, lymphocyte count, CD4+ cells, and mortality. CONCLUSIONS: Monogenic diseases may be observed in children with early-onset protein-losing enteropathy, and genetic evaluation with next-generation sequencing should be considered.
Subject(s)
Asian People/genetics , Calcium-Binding Proteins/genetics , Diacylglycerol O-Acyltransferase/genetics , Mutation/genetics , Protein-Losing Enteropathies/ethnology , Protein-Losing Enteropathies/genetics , Tumor Suppressor Proteins/genetics , Child , Child, Preschool , China , Cohort Studies , Female , Genotype , High-Throughput Nucleotide Sequencing , Humans , Infant , Male , Phenotype , Protein-Losing Enteropathies/diagnosis , Retrospective StudiesABSTRACT
A criptococose é uma doença oportunista que ocorre com maior frequência em pacientes imunossuprimidos, ocasionando piora clínica e imunológica importante. Porém, é raro quando a doença ocorre em pacientes imunocompetentes. Relatamos aqui um caso de paciente previamente hígido que evoluiu com enteropatia perdedora de proteína, hipogamaglobulinemia secundária causada por criptococose disseminada.
Cryptococcosis is an opportunistic disease that occurs more frequently in immunosuppressed patients, causing important clinical and immunological deterioration. However, the disease rarely occurs in immunocompetent patients. We report a case of a previously healthy patient who progressed with protein-losing enteropathy, secondary hypogammaglobulinemia caused by disseminated cryptococcosis.
Subject(s)
Humans , Male , Middle Aged , Protein-Losing Enteropathies , Cryptococcosis , Diagnosis, Differential , Patients , Opportunistic Infections , Proteins , Agammaglobulinemia , Allergy and ImmunologySubject(s)
Common Variable Immunodeficiency/diagnosis , Lymphangiectasis, Intestinal/diagnosis , Lymphedema/diagnosis , Bacterial Infections/etiology , Child , Diagnostic Errors , Edema/etiology , Female , Humans , Lymphangiectasis, Intestinal/complications , Lymphangiectasis, Intestinal/diet therapy , Lymphangiectasis, Intestinal/pathology , Lymphedema/complications , Lymphedema/diet therapy , Lymphedema/pathology , Protein-Losing Enteropathies/etiology , Single Photon Emission Computed Tomography Computed TomographyABSTRACT
RESUMO A doença celíaca (DC) é uma forma crônica de enteropatia de mecanismo imunológico que afeta o intestino delgado de crianças e adultos geneticamente predispostos, precipitada pela ingestão de alimentos contendo glúten. Também é conhecida como espru celíaco, enteropatia sensível ao glúten ou espru não tropical. A doença pode se manifestar na forma Clássica, Não Classica e assintomática. Para o diagnostico é imprescindível a realização de endoscopia digestiva alta com biópsia de intestino delgado, considerado o padrão-ouro. Os marcadores sorológicos são úteis para identificar os indivíduos que deverão ser submetidos à biópsia de intestino delgado e também são úteis para acompanhamento do paciente celíaco. Os principais testes sorológicos para a detecção da intolerância ao glúten são o anticorpo antigliadina, o anticorpo antiendomísio e o anticorpo antitransglutaminase (TTG). O tratamento da DC consiste na introdução de dieta isenta de glúten de forma permanente, devendo-se, portanto, excluir da dieta os seguintes cereais e seus derivados: trigo, centeio, cevada, malte, aveia. Neste trabalho relatamos o caso de um paciente com diagnóstico tardio de DC, que iniciou o quadro com enteropatia perdedora de proteína, com quadro infeccioso vigente, PCR aumentado, leucocitose, plaquetose e hipoalbuminemia. Realizada EDA com biópsia que juntamente com anti endomisio IgA positivo resultaram no diagnóstico de DC. Paciente manteve-se com leucocitose e plaquetose. O objetivo deste relato é apresentar uma paciente com diagnóstico de DC e revisar aspectos clínicos e terapêuticos atuais da doença. Palavras-chave: Doença Celíaca; Enteropatia Perdedora de Proteína ; Plaquetose; Leucocitose.
Subject(s)
Humans , Male , Female , Protein-Losing Enteropathies , Thrombocytosis , Celiac Disease , LeukocytosisSubject(s)
Anti-Infective Agents/blood , Chylothorax/pathology , Coinfection/pathology , HIV Infections/complications , Leishmaniasis/pathology , Mycobacterium Infections, Nontuberculous/pathology , Protein-Losing Enteropathies/pathology , Chylothorax/diagnosis , Coinfection/diagnosis , Humans , Leishmaniasis/diagnosis , Lymphoscintigraphy , Male , Middle Aged , Mycobacterium Infections, Nontuberculous/diagnosis , Plasma/chemistry , Protein-Losing Enteropathies/diagnosis , Radiography, Abdominal , Radiography, Thoracic , South America , Tomography, X-Ray ComputedABSTRACT
Amyloidosis of the gastrointestinal tract is usually a systemic disease. Localized gastrointestinal amyloidosis without evidence of extraintestinal involvement or an associated plasma cell dyscrasia is uncommon and does not usually cause death. We report a case of a patient with localized gastrointestinal amyloidosis who presented with protein-losing enteropathy and a fatal upper gastrointestinal bleed.
Subject(s)
Amyloidosis/complications , Gastrointestinal Diseases/complications , Gastrointestinal Hemorrhage/etiology , Protein-Losing Enteropathies/etiology , Aged , Amyloidosis/therapy , Blood Transfusion , Fatal Outcome , Gastrointestinal Diseases/therapy , Gastrointestinal Hemorrhage/therapy , Humans , Magnetic Resonance Imaging , Male , Protein-Losing Enteropathies/therapyABSTRACT
A síndrome de desregulação imune, poliendocrinopatia e enteropatia ligada ao X (IPEX) é uma síndrome de imunodeficiência primária rara, de herança recessiva, que afeta lactentes do sexo masculino. A doença cursa com enteropatia perdedora de proteínas, dermatite eczematosa e poliendocrinopatias, podendo ser fatal naqueles sem tratamento apropriado. O objetivo deste relato é descrever um caso de IPEX, enfatizando a importância da história familiar para o diagnóstico precoce. O caso descreve um lactente com tipo grave da síndrome, com apresentação clínica precoce e história familiar característica, com episódios de morte prematura em doze homens pertencentes à linhagem materna. O diagnóstico por mapeamento genético demostrando mutação no gene FOXP3 foi obtido após o óbito do paciente, decorrente de choque séptico. O transplante de células-tronco hematopoiéticas é o melhor tratamento disponível, e na sua ausência, a síndrome IPEX pode ser fatal nos primeiros dois anos de vida. Assim, assegurar um diagnóstico precoce é fundamental.
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare recessive primary immunodeficiency syndrome that affects male infants. The disease course is characterized by protein-losing enteropathy, eczematous dermatitis, and polyendocrinopathies, and may be fatal if not appropriately treated. The aim of this report was to describe a case of IPEX, emphasizing the importance of family history for early diagnosis. The case describes an infant with a severe manifestation of the syndrome, with early clinical presentation and characteristic family history, with episodes of premature death affecting 12 men belonging to the mother's lineage. Diagnosis was established by genetic mapping after the patient's death due to septic shock; a mutation in the FOXP3 gene was found. Hematopoietic stem cell transplantation is the best treatment available; in its absence, the IPEX syndrome can be fatal in the first 2 years of life. Therefore, ensuring early diagnosis is critical.
Subject(s)
Humans , Male , Infant , Polyendocrinopathies, Autoimmune , Genetic Diseases, X-Linked , Early Diagnosis , Primary Immunodeficiency Diseases/mortality , Patients , Protein-Losing Enteropathies , Chromosome Mapping , Mortality, Premature , MutationABSTRACT
lntrodução: a estrongiloidíase tem grande importância médica devido à capacidade de o Strongyloides stercoralis completar seu ciclo de vida no homem e gerar a síndrome de hiperinfecção principalmente em imunocomprometidos. Devido à dificuldade em estruturar a resposta Th2, os pacientes infectados com o Vírus Linfotrópico de Células T Humanas Tipo 1 (HTLV-1) têm maior tendência a apresentar infecção maciça. A leishmaniose visceral, doença relevante em países em desenvolvimento, causa alterações imunológicas semelhantes, porém há poucos relatos de suscetibilidade específica ao Strongyloides stercoralis nos infectados por Leishmania sp. O presente trabalho tem objetivo de relatar um caso de coinfecção HTLV e calazar, que apresentou-se como pancreatite aguda e enteropatia perdedora de proteínas secundárias à estrongiloidíase maciça. Relato de caso: trata-se de um paciente de 34 anos com história de leishmaniose prévia que deu entrada no nosso Serviço com pancreatite aguda idiopática leve, além de história de diarreia crônica há um ano com anasarca e hipoalbuminemia associadas. Apresentou endoscopia digestiva alta com atrofia duodenal importante, tendo sido identificados Strongyloides stercoralis em biópsia, além de sorologia para HTLV positiva. Apresentou translocação bacteriana com sepse grave de foco abdominal, após início do tratamento com ivermectina, tendo posteriormente evoluído com melhora clínica importante e remissão dos sintomas. Fez investigação com punção de medula óssea, em que foram identificadas as formas amastigotas da leishmania. Discussão e conclusão: a presença de HLTV é um fator de risco para a síndrome de hiperinfecção por Strongyloides stercoralis, tendo predisposto o paciente às manifestações graves e raras descritas. A identificação de leishmania na medula óssea, entretanto, é um fator de risco ainda pouco conhecido para estrongiloidíase disseminada, porém com plausibilidade biológica por afetar o sistema imunológico do hospedeiro.(AU)
Introduction: strongyloidiasis has great medical importance because of the ability of the Strongyloides stercoralis to complete its life cycle in man and cause hyperinfection syndrome especially in immunocompromised hosts. Because of the difficulty in triggering The response, Human T-cell lymphotropic virus type 1 (HTLV-1) infected patients has susceptibility for massive infection. Visceral leishmaniasis, a relevant disease in developing countries, causes similar immunological changes, but there are few reports of specific susceptibility to Strongyloides stercoralis on infected by Leishmania sp. This study aimed to report a case of HTLV and kala azar coinfection, presenting as acute pancreatitis and protein losing enteropathy secondary to massive strongyloidiasis. Case report: a 34-year-old patient previously treated for leishmaniasis has presented at our service with idiopathic acute pancreatitis and chronic diarrhea for one year with anasarca and hypoalbuminemia. Upper endoscopy revealed duodenal atrophy in which biopsy identified Strongyloides stercoralis, and HLTV serology was positive. He presented with bacterial translocation and severe sepsis after first dose of ivermectin, but has clinical improvement and remission of symptoms afterwards. Bone marrow aspiration identified amastigote forms of Leishmania. Discussion and Conclusion: the presence of HLTV is a risk factor for Strongyloides stercoralis hyperinfection, and predisposed this patient to the serious and rare events described. The identification of Leishmania in bone marrow, however, is an poorly known risk factor for disseminated strongyloidiasis, but with biological plausibility because it affects the immune system of the host.(AU)
Subject(s)
Humans , Male , Adult , Pancreatitis , Protein-Losing Enteropathies , Strongyloidiasis , Human T-lymphotropic virus 1 , Leishmaniasis, Visceral , Pancreatitis, Acute NecrotizingABSTRACT
BACKGROUND: Congenital cardiac anomalies are associated with immunologic perturbations. Surgical thymectomy, thoracic duct manipulation, and protein- losing enteropathy (PLE), a condition related to stressed Fontan hemodynamics, presumably contribute to low peripheral absolute lymphocyte counts (ALCs) and quantitative immunoglobulins. Clinical significance of lymphopenia and hypogammaglobulinemia in single-ventricle survivors requires additional study. OBJECTIVE: Although immunologic laboratory anomalies are common in this population, we hypothesize that clinically significant immunodeficiency requiring intervention is rarely required. METHODS: A retrospective chart review of the immunologic parameters of patients enrolled in the Single Ventricle Survivorship Program (SVSP) at the Children's Hospital of Philadelphia was performed. RESULTS: The age range of the 178 SVSP patients was 3 to 26 years, with a median of 10.8 years. Most of the SVSP patients had some degree of lymphopenia. In the non-PLE group, the range of ALCs varied from 530 to 5322 cells/µL, with 17 patients without PLE maintaining an ALC of less than 1000 cells/µL. Among those with PLE, the median ALC and the IgG level were lower (672 cells/µL and 200 mg/dL, respectively) than in those without (1610 cells/µL and 868 mg/dL, respectively). Despite lymphopenia in the majority, few were severely clinically affected: 24% had delayed clearance of cutaneous viral infections, 63% had atopy, and 1 died of EBV-associated Hodgkin lymphoma. Immunoglobulin replacement was clinically indicated for 3 patients, 1 of whom had common variable immunodeficiency. Four patients with normal splenic function were treated with daily antibiotic prophylaxis. CONCLUSIONS: Patients with repaired single-ventricle physiology often demonstrate T-cell lymphopenia and hypogammaglobulinemia. A significant portion of patients without PLE also have lymphopenia. The most common clinical manifestation was delayed clearance of cutaneous viral infections, but significant systemic opportunistic infections were not seen despite laboratory abnormalities and lack of antimicrobial prophylaxis.
Subject(s)
Agammaglobulinemia/etiology , Fontan Procedure/adverse effects , Heart Defects, Congenital/surgery , Lymphopenia/etiology , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Protein-Losing Enteropathies/etiology , Risk Factors , Survivors , Young AdultABSTRACT
Congenital intestinal lymphangiectasis (LIP) is a protein-losing enteropathy that appears sporadically in children. It begins with edema due to hypoproteinemia and hypoalbuminemia, and in some cases with ascites, immunodeficience and hypocalcemic tetania. The purpose of this report is to present two patients with LIP which appeared during the first year of life. The diagnosis was certificated by upper gastrointestinal videoendoscopy and histological findings. Both patients were treated with a new formula containing mean chain triglycerides with an adequate response, not obtained before with a common semielemental formula.