RESUMO
Granulomatous fungal infections are common worldwide, and they can result in mediastinal lymphadenopathy. However, infectious pulmonary artery masses are rare and have only been associated with tuberculosis or mucormycosis. Here, we present a case of histoplasmosis resulting in a pulmonary artery mass, which was treated with debulking and reconstruction of pulmonary vasculature.
Assuntos
Doença Granulomatosa Crônica/diagnóstico , Histoplasmose/diagnóstico , Artéria Pulmonar , Dor no Peito/etiologia , Diagnóstico Diferencial , Feminino , Doença Granulomatosa Crônica/patologia , Doença Granulomatosa Crônica/cirurgia , Histoplasmose/patologia , Histoplasmose/cirurgia , Humanos , Infarto/diagnóstico , Infarto/patologia , Infarto/cirurgia , Inflamação/diagnóstico , Inflamação/patologia , Inflamação/cirurgia , Pulmão/irrigação sanguínea , Pulmão/diagnóstico por imagem , Pulmão/patologia , Pessoa de Meia-Idade , Artéria Pulmonar/patologia , Artéria Pulmonar/cirurgia , Tomografia Computadorizada por Raios XRESUMO
We present a case report of a boy diagnosed with both chronic granulomatous disease (CGD) and familial celiac disease (CD) who underwent cord blood transplantation from a partially matched sibling donor. The presentation of CD resembled Crohn-like enteropathy, which is a canonical manifestation of CGD. Nearly 1 year post-hematopoietic stem cell transplantation (HSCT), a gluten-containing diet was reintroduced, and no reappearance of clinical, serologic, or histologic markers of CD was observed. The relatively high incidence of rare genetic diseases in pediatric patients suggests the need for additional caution in the interpretation of symptoms mimicking already known hallmarks of more common conditions. In addition, the presented data confirm the previous rare observations that allogeneic HSCT leads to durable induction of gluten tolerance in patients with CD, which can warrant its use in patients with refractory subtypes of CD.
Assuntos
Doença Celíaca/complicações , Transplante de Células-Tronco de Sangue do Cordão Umbilical/métodos , Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/cirurgia , Doença Celíaca/genética , Criança , Pré-Escolar , Doença Granulomatosa Crônica/genética , Humanos , Lactente , Masculino , Irmãos , Transplante HomólogoRESUMO
BACKGROUND The objective of this study was the analysis of transplant outcomes and survival in children treated with allogeneic hematopoietic cell transplantation (alloHCT) for non-malignant disorders, with a focus on risk factor analysis of transplant-related mortality (TRM). MATERIAL AND METHODS The treatment outcome was analyzed retrospectively in 10 consecutive years in 4 pediatric transplant centers in Poland. To compare the outcomes, patient data were analyzed according to the diagnosis, age at transplant, donor type, stem cell source, conditioning regimens, transplanted CD34+ cells dose, and pediatric TRM score. RESULTS From 183 analyzed patients, 27 (14.8%) died, all of them due to transplant-related complications. TRM occurred more frequently in matched unrelated donor (MUD) transplant recipients vs. matched sibling donor (MSD) transplant recipients (p=0.02); in peripheral blood (PB) recipients vs. bone marrow (BM) recipients (p=0.004); and in patients receiving >5×106/kg CD34+ cells (p<0.0001). OS differed significantly according to underlying disease comparing to other diagnoses. Lower survival was found in patients transplanted from MUD (p=0.02). OS was higher in patients receiving BM (p=0.001) and in those receiving ≤5×106/kg CD34+ cells (p<0.001). Multivariate analysis showed lower probability of TRM in BM recipients (p=0.04). The probability of TRM was higher in SCID patients (p=0.02) and in patients receiving >5×106/kg CD34+ cells (p=0.0001). CONCLUSIONS Underlying disease, stem cell source, and CD34+ dose higher than 5×106/kg were the most important risk factors for TRM, and they all affected OS.
Assuntos
Anemia Aplástica/cirurgia , Síndrome Congênita de Insuficiência da Medula Óssea/cirurgia , Doença Enxerto-Hospedeiro/mortalidade , Doença Granulomatosa Crônica/cirurgia , Transplante de Células-Tronco Hematopoéticas/mortalidade , Doenças da Imunodeficiência Primária/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Doença Enxerto-Hospedeiro/etiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida , Condicionamento Pré-Transplante , Resultado do TratamentoAssuntos
Doença Granulomatosa Crônica/cirurgia , Transplante de Células-Tronco Hematopoéticas/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Doença Granulomatosa Crônica/mortalidade , Transplante de Células-Tronco Hematopoéticas/mortalidade , Humanos , Lactente , Masculino , Resultado do TratamentoRESUMO
Chronic granulomatous disease is a primary immunodeficiency caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This causes impaired microbial killing, which leads to severe life-threatening bacterial and fungal infections. Currently, allogenic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for chronic granulomatous disease, although gene therapy may provide a new therapeutic option for the treatment of patients with CGD. Haploidentical HSCT provides a potentially curative treatment option for patients who lack a suitably HLA-matched donor, but only a few cases have been reported in the literature. Herein, we report a boy with X-linked chronic granulomatous disease treated successfully by haploidentical HSCT with post-transplant cyclophosphamide using a treosulfan-based conditioning regimen
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Assuntos
Humanos , Masculino , Criança , Doença Granulomatosa Crônica/cirurgia , Transplante de Células-Tronco Hematopoéticas/métodos , Ciclofosfamida/uso terapêutico , Ácido Micofenólico/uso terapêutico , Tacrolimo/uso terapêutico , Condicionamento Pré-Transplante/métodos , Doença Enxerto-Hospedeiro/prevenção & controleRESUMO
Lomentospora prolificans is a filamentous fungus and an emerging pathogen in immunocompromised patients. It is encountered most commonly in Australia, Spain, and USA. We described the first case of Lomentospora prolificans fungemia in South America. The patient was a hematopoietic stem cell transplantation (HSCT) recipient who developed the infection 37 days after stem cells infusion. In addition, we performed a literature review of invasive lomentosporiosis in HSCT patients.
Assuntos
Fungemia/microbiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Hospedeiro Imunocomprometido , Scedosporium/patogenicidade , Condicionamento Pré-Transplante/efeitos adversos , Adolescente , Antifúngicos/uso terapêutico , Transplante de Células-Tronco de Sangue do Cordão Umbilical/efeitos adversos , Transplante de Células-Tronco de Sangue do Cordão Umbilical/métodos , DNA Fúngico/isolamento & purificação , Fungemia/diagnóstico por imagem , Fungemia/tratamento farmacológico , Fungemia/imunologia , Doença Granulomatosa Crônica/cirurgia , Transplante de Células-Tronco Hematopoéticas/métodos , Humanos , Masculino , Radiografia , Scedosporium/genética , Scedosporium/isolamento & purificação , América do Sul , Condicionamento Pré-Transplante/métodosRESUMO
Chronic granulomatous disease is a primary immunodeficiency caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This causes impaired microbial killing, which leads to severe life-threatening bacterial and fungal infections. Currently, allogenic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for chronic granulomatous disease, although gene therapy may provide a new therapeutic option for the treatment of patients with CGD. Haploidentical HSCT provides a potentially curative treatment option for patients who lack a suitably HLA-matched donor, but only a few cases have been reported in the literature. Herein, we report a boy with X-linked chronic granulomatous disease treated successfully by haploidentical HSCT with post-transplant cyclophosphamide using a treosulfan-based conditioning regimen.
Assuntos
Doença Granulomatosa Crônica/cirurgia , Transplante de Células-Tronco Hematopoéticas/métodos , Transplante Haploidêntico/métodos , Criança , Ciclofosfamida/uso terapêutico , Doença Enxerto-Hospedeiro/prevenção & controle , Humanos , Imunossupressores/uso terapêutico , Masculino , Ácido Micofenólico/uso terapêutico , Tacrolimo/uso terapêutico , Condicionamento Pré-Transplante/métodosAssuntos
Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/cirurgia , Excisão de Linfonodo , Linfadenite/etiologia , Linfadenite/cirurgia , Esvaziamento Cervical , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pescoço , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemRESUMO
Mucormycosis is uncommon in patients with chronic granulomatous disease (CGD). We report a 7-year-old boy with X-linked CGD and absent oxidative burst who developed fatal Lichtheimia ramosa infection with fungal thrombosis of the kidneys, spleen and other organs after hematopoietic stem cell transplantation. Lichtheimia infection is rarely reported in patients with CGD and could be related to iatrogenic immunosuppression.
Assuntos
Doença Granulomatosa Crônica/cirurgia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Mucorales/isolamento & purificação , Mucormicose/etiologia , Evolução Fatal , Doença Granulomatosa Crônica/microbiologia , Humanos , Lactente , Masculino , Trombose Venosa/microbiologiaAssuntos
Disfunção Cognitiva , Doença Granulomatosa Crônica/diagnóstico , Mastite/diagnóstico , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Doença Granulomatosa Crônica/diagnóstico por imagem , Doença Granulomatosa Crônica/cirurgia , Humanos , Mastite/diagnóstico por imagem , Mastite/cirurgia , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Chronic granulomatous disease (CGD) is a genetic disorder in which phagocyte dysfunction leads to recurrent infection. Persistent pulmonary infections sometimes require thoracic surgical intervention. We reviewed our 25-year experience to identify outcomes and prognostic factors associated with thoracic surgery in these patients. METHODS: A retrospective single-institution review of all patients with CGD from 1990 through 2015 was performed. Univariate analysis identified prognostic variables to include in a Cox model. Overall survival was estimated by the Kaplan-Meier method. RESULTS: We identified 258 patients who had 2221 admissions (both scheduled and emergent). During the period examined, 51 thoracic operations were performed in 13.6 % (35/258) of patients and 2.3 % (35/2221) of overall admissions. Patients undergoing surgery did not have statistically significant differences in disease genotype compared to those that did not require surgery. Pathogens were identified from 67 % (34/51) of specimens. Complications occurred in 27 % (14/51), including 10 % (5/51) with wound and 12 % (6/51) with pulmonary infections. Mortality at 30 and 90 days was 0 and 6 % (3/51), respectively. Overall survival probabilities were 75 and 62 % at 5- and 10-year follow-up (median potential follow-up: 16.5 years), respectively. Undergoing thoracic surgery was associated with an increased hazard ratio for death of 3.71 (p < 0.0001). Both chest wall resection and EBL > 500 mL were negative prognostic factors (p < 0.05). CONCLUSIONS: A minority of CGD patients required thoracic surgery for infections refractory to antibiotic or antifungal therapy. Patients who had these operations had significant morbidity and relatively poor long-term survival, particularly in the cases of chest wall resection or significant blood loss.
Assuntos
Doença Granulomatosa Crônica/cirurgia , Procedimentos Cirúrgicos Torácicos , Biomarcadores , Criança , Pré-Escolar , Comorbidade , Gerenciamento Clínico , Feminino , Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/diagnóstico , Doença Granulomatosa Crônica/mortalidade , Humanos , Lactente , Masculino , Mutação , NADPH Oxidase 2/genética , Estudos Retrospectivos , Procedimentos Cirúrgicos Torácicos/métodos , Resultado do TratamentoRESUMO
BACKGROUND: Chronic granulomatous disease (CGD) is a rare inherited disorder in which phagocytes are unable to eradicate pathogens because of a deficit of nicotinamide adenine dinucleotide phosphate oxidase. Among CGD patients, â¼ 30% to 50% develop severe gastrointestinal tract symptoms. Although characteristic histologic findings of CGD-associated colitis have been reported, information on endoscopic features remained vague. METHODS: A total of 8 male patients with CGD (ages 2-23 years) from 2 Japanese institutions underwent colonoscopy for the evaluation of their fever, diarrhea, bloody stool, and abdominal pain. The endoscopic and histologic findings were retrospectively reviewed. RESULTS: The endoscopic findings of CGD-associated colitis appeared varied. Notably, brownish dots over a yellowish edematous mucosa were observed in 3 of the 8 patients. Prominent pigment-laden macrophages were noted histologically on the mucosa. CONCLUSIONS: Although nonspecific endoscopic findings of CGD-associated colitis have been reported before, our observation of brownish dots spread across a yellowish edematous mucosa, termed "leopard sign," could be a unique feature of this condition.
Assuntos
Colo/patologia , Doença de Crohn/patologia , Doença Granulomatosa Crônica/patologia , Mucosa Intestinal/patologia , Pigmentação , Dor Abdominal/etiologia , Dor Abdominal/patologia , Adolescente , Criança , Pré-Escolar , Colonoscopia , Doença de Crohn/complicações , Doença de Crohn/cirurgia , Diarreia/etiologia , Diarreia/patologia , Hemorragia Gastrointestinal/etiologia , Hemorragia Gastrointestinal/patologia , Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/cirurgia , Humanos , Macrófagos/patologia , Masculino , Estudos Retrospectivos , Adulto JovemRESUMO
PURPOSE: The aim of this study was to compare the outcomes of vitrectomy in granulomatous uveitis and nongranulomatous uveitis insufficiently managed by immunosuppressive therapy. METHODS: Thirty-eight eyes with granulomatous uveitis and 17 eyes with nongranulomatous uveitis that underwent vitrectomy for ocular complications between July 2006 and August 2012 were reviewed retrospectively. Visual acuity and ocular inflammation scores before and 6 months after surgery were compared. Patients treated with vitrectomy alone and those in whom vitrectomy was combined with phacoemulsification were analyzed separately. RESULTS: The mean visual acuity improved significantly both in granulomatous and nongranulomatous uveitis. In granulomatous uveitis, the mean inflammation scores decreased significantly both in the anterior segment and in the posterior segment. In nongranulomatous uveitis, the mean inflammation score in the posterior segment decreased significantly, although it did not change in the anterior segment. CONCLUSION: Vitrectomy was effective for treating ocular complications both in granulomatous uveitis and nongranulomatous uveitis, with favorable outcomes of improved visual acuity and decreased uveitis activity.
Assuntos
Doença Granulomatosa Crônica/cirurgia , Uveíte/cirurgia , Vitrectomia/métodos , Adulto , Idoso , Artrite/fisiopatologia , Artrite/cirurgia , Síndrome de Behçet/fisiopatologia , Síndrome de Behçet/cirurgia , Feminino , Doença Granulomatosa Crônica/fisiopatologia , Humanos , Iridociclite/fisiopatologia , Iridociclite/cirurgia , Masculino , Microcirurgia/métodos , Pessoa de Meia-Idade , Facoemulsificação , Estudos Retrospectivos , Sarcoidose/fisiopatologia , Sarcoidose/cirurgia , Resultado do Tratamento , Uveíte/fisiopatologia , Acuidade Visual/fisiologiaRESUMO
Chronic granulomatous disease (CGD) is a genetic disease caused by structural mutations in the enzyme NADPH oxidase that results in severe immunodeficiency. End-stage renal disease occurs in this patient population and is attributed to various factors, including infections, amyloidosis, and nephrotoxic anti-infective agents. In this report, we present our experience in transplantation for a patient with CGD complicated by isolated hepatic tuberculosis abscess. The course of the case demonstrates the absolute requirements for a multidisciplinary and compulsive approach before, during, and after transplantation. This case report also highlights the unexpectedly benign effects of immunosuppressive therapy in this patient population.
Assuntos
Doença Granulomatosa Crônica/complicações , Falência Renal Crônica/cirurgia , Transplante de Rim , Abscesso Hepático/patologia , Adulto , Anti-Infecciosos/efeitos adversos , Doença Granulomatosa Crônica/patologia , Doença Granulomatosa Crônica/cirurgia , Humanos , Imunossupressores/efeitos adversos , Falência Renal Crônica/etiologia , Falência Renal Crônica/patologia , Abscesso Hepático/etiologia , Abscesso Hepático/cirurgia , MasculinoRESUMO
AIM: The authors review their experience in the endoscopic endonasal transsphenoidal treatment of 5 patients, finally diagnosed as primary hypophysitis but initially assumed to be pituitary adenomas. MATERIAL AND METHODS: A retrospective study was undertaken to review 5 cases of primary non-necrotizing granulomatous hypophysitis (1.61%) through 310 endoscopic transsphenoidally operated cases with the diagnosis of pituitary adenoma between 2009 and 2013. All 5 cases were female without any background of autoimmunity or recent pregnancy. The initial presumptive diagnosis was pituitary adenoma for all patients. The endocrinological diagnoses of the patients were suspected Cushing's Disease, anterior pituitary deficiency with hyponatremia, hyperprolactinemia, and acromegaly. One of the patients had normal hormonal levels. All patients had macroadenomas including one invasive adenoma with skull base involvement. One of the patients (20%) had visual field defects. All patients underwent endoscopic endonasal transsphenoidal surgery (EETS). RESULTS: All patients had improvement of hormonal levels postoperatively except the one with anterior pituitary deficiency who required long term hormone replacement after the surgery. Mean follow-up duration was 14.8 months. CONCLUSION: Primary granulomatous hypophysitis without any known etiological factors is very rare in the literature. It can mimic pituitary adenomas in radiological and endocrinological aspects. EETS is an effective and safe treatment especially for visual and compression symptoms.
Assuntos
Doença Granulomatosa Crônica/diagnóstico , Doenças da Hipófise/diagnóstico , Acromegalia/etiologia , Adulto , Diagnóstico Diferencial , Endoscopia , Feminino , Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/cirurgia , Humanos , Pessoa de Meia-Idade , Hipersecreção Hipofisária de ACTH/complicações , Doenças da Hipófise/complicações , Doenças da Hipófise/cirurgia , Estudos RetrospectivosRESUMO
We describe the successful hematopoietic stem cell transplant of a 22-year-old patient with chronic granulomatous disease at our center. Our case was a relatively old male patient compared with other patients having the diagnosis of chronic granulomatous disease who underwent hematopoietic stem cell transplant. The patient was diagnosed as chronic granulomatous disease at the age of 1 year when he developed repeated bacterial infections since 2 months of age and laboratory test revealed 0% of normal control value on nitroblue tetrazolium test. In December 2011, at 22 years of age, he underwent an allogeneic hematopoietic stem cell transplant from human leukocyte antigen fully matched sibling. Conditioning regimen was busulfan 16 mg/kg and cyclophosphamide 120 mg/kg. He received methotrexate and cyclosporine as prophylaxis for graft-versus-host disease. Engraftment was achieved at day 13. At the time of this writing, the patient is alive and well with no serious complication and without any evidence of graft-versus-host disease or rejection 12 months after stem cell transplant.
Assuntos
Doença Granulomatosa Crônica/cirurgia , Transplante de Células-Tronco Hematopoéticas , Sobrevivência de Enxerto , Doença Enxerto-Hospedeiro/imunologia , Doença Enxerto-Hospedeiro/prevenção & controle , Doença Granulomatosa Crônica/diagnóstico , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Imunossupressores/uso terapêutico , Irã (Geográfico) , Doadores Vivos , Masculino , Fatores de Risco , Fatores de Tempo , Condicionamento Pré-Transplante/métodos , Transplante Homólogo , Resultado do Tratamento , Adulto JovemRESUMO
PURPOSE: To evaluate the clinical and immunopathologic features of 2 patients with bilateral dacryoadenitis associated with regional enteritis. DESIGN: Retrospective, clinicopathologic study. METHODS: Clinical records, photographs, and imaging studies were reviewed and microscopic sections of lacrimal gland biopsy samples were critically re-evaluated. The microscopic slides were stained with hematoxylin and eosin, special stains for organisms, and a range of immunohistochemical biomarkers, including CD3, CD4, CD5, CD8, CD20, CD68, CD138, CD1a, and immunoglobulins Ig G, IgG4, and IgA. RESULTS: Both patients were young women with a well-established diagnosis of regional enteritis. Histopathologic examination of biopsy samples disclosed moderate intraparenchymal fibrosis and lymphoplasmacytic infiltrates without lymphoid follicles. Small to medium intraparenchymal, noncaseating granulomas lacking multinucleated giant cells and, in 1 patient, CD68-positive and CD1a-negative palisading granulomas in widened interlobular fibrous septa were detected. Vasculitis and IgG4 plasma cells were not observed. Additional immunohistochemical studies revealed that CD8 T lymphocytes (suppressor or cytotoxic subset) predominated over CD4-positive T lymphocytes (helper cells) surrounding the necrobiotic foci and were intermixed with the CD68-positive histiocytes in the absence of CD20 B lymphocytes. Special stains for organisms demonstrated negative results. CONCLUSIONS: Dacryoadenitis is the rarest form of ocular adnexal involvement in regional enteritis, which affects the orbit far more frequently than ulcerative colitis. It is a granulomatous process with the possibility of palisading necrobiotic foci. In contrast, ulcerative colitis causes an interstitial lymphocytic and nongranulomatous myositis. Sarcoidosis, Wegener granulomatosis, and pseudorheumatoid nodules must be ruled out. Treatment options entail a wide variety of agents with selection based on empirical considerations and tailored to the patient's symptoms.
Assuntos
Doença de Crohn/complicações , Dacriocistite/etiologia , Doença Granulomatosa Crônica/etiologia , Adulto , Anti-Inflamatórios não Esteroides/uso terapêutico , Antígenos CD/metabolismo , Biomarcadores/metabolismo , Linfócitos T CD8-Positivos/imunologia , Doença de Crohn/diagnóstico , Dacriocistite/diagnóstico , Dacriocistite/tratamento farmacológico , Dacriocistite/cirurgia , Feminino , Doença Granulomatosa Crônica/diagnóstico , Doença Granulomatosa Crônica/cirurgia , Humanos , Técnicas Imunoenzimáticas , Imageamento por Ressonância Magnética , Estudos Retrospectivos , Sulfassalazina/uso terapêutico , Linfócitos T Citotóxicos/imunologia , Linfócitos T Auxiliares-Indutores/imunologiaRESUMO
PURPOSE: The objective of this study is to evaluate the impact of changes to the mucous in the middle ear on the outcome of the reconstruction of the ossicular chain exemplified by a type 2 tympanoplasty. MATERIAL/METHODS: A prospective analysis was carried out with regard to patients operated on at the Otolaryngology Department at Collegium Medicum, Jagiellonian University, between 2007 and 2011 due to conditions of the middle ear. The patients who had undergone surgical treatment for the first time because of chronic otitis media were taken into account. The operations involving a type 2 tympanoplasty were earmarked for further analysis. The effectiveness of treatment was measured by the change of the Air-Bone Gap (AGP). RESULTS: The analysis covered 47 patients, whose own modeled incuses were placed on normal stapes. The patients were divided into two groups (with and without cholesteatoma). A statistically significant hearing improvement was observed in the patients with cholesteatoma. In the group without cholesteatoma and with a prevalence of granulomatous lesions, no statistically significant hearing improvement was observed 6 and 12 months following the ear surgery. CONCLUSIONS: In the patients with cholesteatoma and a minor damage to the ossicular chain, a significant hearing improvement is observed after ossiculoplasty. An occurrence of granulomatous lesions is an unfavorable predictor. The Air-Bone Gap measured before the surgery often does not the actual advancement of the pathological process, and hearing improvement after the surgery cannot be prognosticated on the basis of that amount alone.
Assuntos
Colesteatoma/cirurgia , Doença Granulomatosa Crônica/cirurgia , Otite Média/cirurgia , Timpanoplastia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Doença Crônica , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Adulto JovemRESUMO
Chronic granulomatous disease (CGD) is a rare genetic disease, which is caused by defects in the NADPH oxidase complex (gp91(phox), p22(phox), p40(phox), p47(phox), and p67(phox)) of phagocytes. This defect results in impaired production of superoxide anions and other reactive oxygen species (ROS), which are necessary for killing bacterial and fungal microorganisms and leads to recurrent, life-threatening bacterial and fungal infections and granulomatous inflammation. The dihydrorhodamine (DHR) flow cytometry assay is a useful diagnostic tool for CGD that can detect absent or reduced NADPH oxidase activity in stimulated phagocytes. We report a patient with X-linked CGD carrying a novel mutation of the CYBB gene whose chimerism status following hematopoietic stem cell transplantation (HSCT) has been rapidly determined using the DHR assay. The level of DHR activity correlates well with short tandem repeat PCR analysis. Considering the advantages of this simple, rapid, and cost-effective procedure, serial measurement of DHR assay would facilitate the rapid determination of a patient's engraftment status, as a supplementary monitoring tool of chimerism status following HSCT.
Assuntos
Quimerismo , Doença Granulomatosa Crônica/diagnóstico , Doença Granulomatosa Crônica/enzimologia , Transplante de Células-Tronco Hematopoéticas , Glicoproteínas de Membrana/genética , NADPH Oxidases/genética , Sequência de Bases , Análise Mutacional de DNA , Citometria de Fluxo , Doença Granulomatosa Crônica/genética , Doença Granulomatosa Crônica/cirurgia , Homozigoto , Humanos , Recém-Nascido , Masculino , Glicoproteínas de Membrana/química , Mutação , NADPH Oxidase 2 , NADPH Oxidases/química , Reação em Cadeia da Polimerase , Rodaminas/química , Rodaminas/metabolismoRESUMO
Chronic granulomatous disease (CGD) is a primary immunodeficiency managed conservatively or with hematopoietic stem cell transplant. Studies have shown people with CGD and those transplanted for primary immunodeficiencies have lower than average cognitive ability. In this study, IQ in children with CGD and those transplanted for it was within the normal range.