RESUMO
INTRODUÇÃO Cardiomiopatia (CMP) induzida por estresse, como a cardiomiopatia de Takotsubo, pode ter características clínicas semelhantes à isquemia miocárdica, como elevação de troponinas, alterações no Eletrocardiograma (ECG), mas sem obstrução coronariana ou lesões isquêmicas. Semelhante, a CMP induzida por Feocromocitoma possui sintomas também semelhantes a CMP hipertrófica, hipertensão e edema pulmonar devido a fatores cardiogênicos ou não cardiogênicos. Ambas supracitadas podem ter associação com excesso de catecolaminas, mas raramente estão associadas. RELATO DO CASO Paciente masculino, 46 anos, diabético, com história de estresse por situações familiares importantes, recentemente. Chega no serviço de emergência, com queixas de dispnéia, náuseas e êmese, iniciados há 1 dia, associado a retenção urinária e parestesia em mãos e paraparesia de membros inferiores. Refere também tratamento com Amoxicilina + Clavulanato há um mês por Colecistite Aguda. Na chegada, paciente se encontrava taquicárdico, taquipneico e saturando 98% em uso de óculos nasal a 2l/min, além de acidose metabólica. Realizou-se uma tomografia computadorizada de abdome, que evidenciou uma massa em Adrenal, sugestivo de Feocromocitoma, bem como metanefrinas urinárias e catecolaminas positivas. Ainda na emergência, evoluiu com insuficiência respiratória aguda por edema agudo de pulmão, necessitando de manejo com Nitroglicerina e 03 ampolas de Furosemida e uso de máscara não reinalante a 10l/min. Foi encaminhado para Unidade de Terapia Intensiva, onde foi realizado um ECG com alterações primárias da repolarização, seguido de alterações nos valores de Troponina e alterações no Ecocardiograma (ECO) de acinesia apical, hipocinesia de todos os segmentos médios e contratilidade preservada em segmentos basais. Cateterismo cardíaco com achados semelhantes ao ECO e presença de balonamento na ventriculografia, além de ausência de lesões obstrutivas em coronárias. CONCLUSÃO A excepcionalidade desse caso diz respeito ao quadro de síndrome coronariana aguda com dois motivos plausíveis e evidenciados na condução do caso, sendo eles: CMP de Takotsubo e a induzida por Feocromocitoma. Fica evidente, pela evolução do quadro, a gravidade do mesmo e a importância de considerar diagnósticos diferenciais, inclusive os menos comuns.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Feocromocitoma , Cardiomiopatia de Takotsubo , Edema Pulmonar , Insuficiência Respiratória , Cateterismo Cardíaco , Catecolaminas , Colecistite Aguda , Dispneia , EletrocardiografiaRESUMO
Pheochromocytoma is a tumor derived from neural crest cells able to produce sympathomimetic substances and, hence, a particular clinical picture. It is responsible for less than 1% of high blood pressure cases, with an estimated incidence between 0.4 and 0.6 cases per 100,000 people each year, and an average survival of seven years. Pheochromocytoma is a solid tumor with a high genetic component, as heritability can reach 40%. Once diagnosed, its treatment and prognosis are partly conditioned by the associated pathogenic variants that can be documented, especially those related to RET, SDHx, VHL, and NF1 genes. We present the case of a young woman with abdominal pain and high blood pressure, who was found to have a pheochromocytoma. Genetic testing detected a rare and recently discovered pathogenic variant: the SDHA:c.1A>C (p.Met1Leu). The patient responded adequately to the surgical treatment and continued the follow-up without documented recurrences. The diagnostic approach for pheochromocytoma patients must start with a clinical suspicion, followed by metabolite measurement in blood and urine, and finally, imaging. Currently, technology development allows precision medicine applicability. In this case of pheochromocytoma, recent developments in precision medicine resulted in the detection of associated genetic components involving the patient and her family. Adequate screening of the index patient is required for documenting pathogenic variants and better characterizing the disease.
El feocromocitoma es un tumor derivado de las células de la cresta neural con la capacidad de producir sustancias simpaticomiméticas y, por ende, un cuadro clínico particular. Causa menos del 1 % de los casos de hipertensión arterial sistémica y su incidencia se estima entre 0,4 y 0,6 casos por 100.000 personas cada año, con una supervivencia media de siete años. De todos los tumores sólidos, el feocromocitoma tiene un mayor componente genético, que puede heredarse hasta en el 40 % de los casos. Una vez diagnosticada la enfermedad, se debe definir el tratamiento y el pronóstico, en parte condicionados por las variantes genéticas asociadas, en especial RET, SDHx, VHL y NF1. Se presenta el caso de una mujer joven con dolor abdominal e hipertensión arterial sistémica, a quien se le diagnosticó feocromocitoma. Al secuenciar el exoma, se identificó una variante patogénica extremadamente rara y de reciente descubrimiento: SDHA: c.1A>C (p.Met1Leu). La paciente respondió adecuadamente al tratamiento quirúrgico y continuó en seguimiento sin recurrencias. El abordaje diagnóstico de los pacientes con feocromocitoma comienza con la sospecha clínica, seguida de la medición de determinados metabolitos en sangre y orina, y, finalmente, los estudios de imagenología. Los desarrollos tecnológicos actuales permiten la aplicación de la medicina de precisión en este campo. En este caso de feocromocitoma, se identificó un componente genético importante que no solo afecta al paciente, sino también, a sus familiares. La tamización adecuada del caso índice permite identificar mutaciones y caracterizar mejor la enfermedad.
Assuntos
Neoplasias das Glândulas Suprarrenais , Hipertensão , Feocromocitoma , Humanos , Feocromocitoma/complicações , Feocromocitoma/genética , Feocromocitoma/diagnóstico , Feminino , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/diagnóstico , Hipertensão/etiologia , Hipertensão/complicações , Colômbia , Paraganglioma/genética , Paraganglioma/complicações , Paraganglioma/diagnóstico , AdultoRESUMO
Pheochromocytomas and paragangliomas (PPGL) are neuroendocrine tumors characterized by the excessive production of catecholamines. This study aims to describe the clinical characteristics of PPGL cases in Argentina over recent decades. A multicenter retrospective cross-sectional analysis was carried out using a database comprising both pediatric and adult patients with confirmed PPGL diagnoses based on pathological reports. A cohort of 486 patients with PPGL was recruited. Women represent 58.4% of the patients, with a mean age of 38.3 years old at the time of diagnosis and 15.2% of the patients were under the age of 18. Hypertension, as well as classic signs and symptoms, were present in 80.9% of the patients. The adrenal incidentaloma, as a mode of presentation, increased in the last two decades rising from 3.9% (1953-2000) to 21.8% (2001-2022), p<0.001. Most tumors were located within the adrenal glands, accounting 83.0% of the cases, with bilateral occurrences noted in 20.0%. The median tumor size was 4.8cm. Local recurrence and metastases were observed in 10.9% and 12.2%. Out of 412 patients, 87.0% exhibited urinary excretion elevation of catecholamines and/or their metabolites. Furthermore, 148 patients, representing 30.4% of the study population, displayed a distinct genetic profile indicative of hereditary syndromes. The distribution of hereditary syndromes revealed that MEN2, VHL, and PGL4 constituted the most prevalent syndromes. This population-based study, spanning seven decades, offers valuable insights into the demographic and clinical characteristics of PPGL patients in Argentina.
Assuntos
Neoplasias das Glândulas Suprarrenais , Bases de Dados Factuais , Paraganglioma , Feocromocitoma , Humanos , Feocromocitoma/patologia , Feocromocitoma/epidemiologia , Argentina , Neoplasias das Glândulas Suprarrenais/epidemiologia , Neoplasias das Glândulas Suprarrenais/patologia , Feminino , Masculino , Estudos Retrospectivos , Adulto , Paraganglioma/patologia , Estudos Transversais , Pessoa de Meia-Idade , Adolescente , Adulto Jovem , Criança , Idoso , Recidiva Local de Neoplasia/epidemiologia , Pré-Escolar , Hipertensão/epidemiologiaRESUMO
El feocromocitoma y el paraganglioma son tumores neuroendocrinos secretores de catecolaminas. Los feocromocitomas se originan en la médula suprarrenal, mientras que los paragangliomas son extraadrenales. Se describe una serie de casos de niños con diagnóstico anatomopatológico de feocromocitoma o paraganglioma que consultaron en un hospital pediátrico de alta complejidad de Argentina. Se incluyeron 21 pacientes, 14 varones, con una mediana de edad de 11,4 años; 8 casos con feocromocitoma y 13 casos con paraganglioma. Se presentaron con hipertensión arterial 14/21. La mayoría de los paragangliomas tuvieron localización paraaórtica (9/13). Debido a que representan una causa potencialmente curable de hipertensión arterial, la sospecha clínica es muy importante. El diagnóstico temprano y la instauración de un tratamiento antihipertensivo adecuado, que permita afrontar la cirugía con normotensión arterial, aseguran la curación en la mayoría de los casos si la resección tumoral es completa.
Pheochromocytomas and paragangliomas are neuroendocrine tumors producing catecholamines. Pheochromocytomas occur in the adrenal medulla, while paragangliomas are those that occur outside the adrenal gland. Here we describe a case series of children with a pathological diagnosis of pheochromocytoma or paraganglioma who consulted at a tertiary care children's hospital in Argentina. A total of 21 patients (14 males) were included; their median age was 11.4 years; 8 children had pheochromocytoma and 13, paraganglioma. Arterial hypertension was observed in 14/21. Most paragangliomas were para-aortic (9/13). Since they are a potentially curable cause of hypertension, clinical suspicion is very important. An early diagnosis and the initiation of an adequate antihypertensive treatment, which allows the patient to undergo surgery with normal blood pressure, ensure a cure in most cases if tumor resection is complete.
Assuntos
Humanos , Criança , Paraganglioma/complicações , Paraganglioma/diagnóstico , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Hipertensão/diagnóstico , Argentina , HospitaisRESUMO
Pheochromocytomas and paragangliomas are neuroendocrine tumors producing catecholamines. Pheochromocytomas occur in the adrenal medulla, while paragangliomas are those that occur outside the adrenal gland. Here we describe a case series of children with a pathological diagnosis of pheochromocytoma or paraganglioma who consulted at a tertiary care children's hospital in Argentina. A total of 21 patients (14 males) were included; their median age was 11.4 years; 8 children had pheochromocytoma and 13, paraganglioma. Arterial hypertension was observed in 14/21. Most paragangliomas were para-aortic (9/13). Since they are a potentially curable cause of hypertension, clinical suspicion is very important. An early diagnosis and the initiation of an adequate antihypertensive treatment, which allows the patient to undergo surgery with normal blood pressure, ensure a cure in most cases if tumor resection is complete.
El feocromocitoma y el paraganglioma son tumores neuroendocrinos secretores de catecolaminas. Los feocromocitomas se originan en la médula suprarrenal, mientras que los paragangliomas son extraadrenales. Se describe una serie de casos de niños con diagnóstico anatomopatológico de feocromocitoma o paraganglioma que consultaron en un hospital pediátrico de alta complejidad de Argentina. Se incluyeron 21 pacientes, 14 varones, con una mediana de edad de 11,4 años; 8 casos con feocromocitoma y 13 casos con paraganglioma. Se presentaron con hipertensión arterial 14/21. La mayoría de los paragangliomas tuvieron localización paraaórtica (9/13). Debido a que representan una causa potencialmente curable de hipertensión arterial, la sospecha clínica es muy importante. El diagnóstico temprano y la instauración de un tratamiento antihipertensivo adecuado, que permita afrontar la cirugía con normotensión arterial, aseguran la curación en la mayoría de los casos si la resección tumoral es completa.
Assuntos
Neoplasias das Glândulas Suprarrenais , Hipertensão , Paraganglioma , Feocromocitoma , Humanos , Masculino , Criança , Feocromocitoma/diagnóstico , Feocromocitoma/complicações , Argentina , Paraganglioma/diagnóstico , Paraganglioma/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Hipertensão/diagnóstico , HospitaisRESUMO
Pheochromocytomas/paragangliomas (PPGL) are rare, metastatic, and potentially fatal neuroendocrine tumors, often neglected because they present symptoms similar to other prevailing clinical conditions such panic syndrome, thyrotoxicosis, anxiety, hypoglycemia, etc., delaying diagnosis and treatment. The rate of diagnosis of PPGL has been increasing with the improvement in the measurement of catecholamine metabolites and the expanding availability of imaging procedures. Its essential genetic nature has been extensively investigated, comprising more than 20 genes currently related to PPGL and more new genes will probably be revealed. This overview will shed some light on the clinical, laboratory, topographical, genetic diagnosis, and management of PPGL.
Assuntos
Neoplasias das Glândulas Suprarrenais , Paraganglioma , Feocromocitoma , Humanos , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Feocromocitoma/terapia , Paraganglioma/diagnóstico , Paraganglioma/genética , Paraganglioma/terapia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/terapiaRESUMO
Functional pheochromocytomas secrete catecholamines and have been associated with cardiovascular lesions in dogs. This study aimed to describe the postmortem pathological findings in the cardiovascular system of dogs with pheochromocytoma and to evaluate the expression of cardiac troponin C in these dogs using immunohistochemical analysis. Twelve cases were identified, with a mean age of 10.6 years. The heart of all dogs was enlarged and with concentric hypertrophy of the left ventricular myocardium. Histological analysis showed cardiomyocyte necrosis and degeneration in the myocardium, with frequent bands of contraction, fibrosis, inflammation, and thickening of the medium-caliber arteries in the myocardium. There was a marked decrease or absence of immunolabeling in necrotic cardiomyocytes. We conclude that IHC for troponin C can be a useful tool for detecting myocardial necrosis in dogs with pheochromocytomas, including early cases of necrosis with only incipient cardiac changes where overt histologic abnormalities are not immediately apparent in the cardiomyocytes.
Assuntos
Neoplasias das Glândulas Suprarrenais , Doenças do Cão , Necrose , Feocromocitoma , Cães , Animais , Feocromocitoma/veterinária , Feocromocitoma/complicações , Feocromocitoma/metabolismo , Troponina C/metabolismo , Miocárdio/metabolismo , Miocárdio/patologia , Neoplasias das Glândulas Suprarrenais/veterinária , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/metabolismo , Necrose/complicações , Necrose/metabolismo , Necrose/patologia , Necrose/veterinária , Doenças do Cão/patologiaRESUMO
CONTEXT: Limited information is available concerning the genetic spectrum of pheochromocytoma and paraganglioma (PPGL) patients in South America. Germline SDHB large deletions are very rare worldwide, but most of the individuals harboring the SDHB exon 1 deletion originated from the Iberian Peninsula. OBJECTIVE: Our aim was to investigate the spectrum of SDHB genetic defects in a large cohort of Brazilian patients with PPGLs. METHODS: Genetic investigation of 155 index PPGL patients was performed by Sanger DNA sequencing, multiplex ligation-dependent probe amplification, and/or target next-generation sequencing panel. Common ancestrality was investigated by microsatellite genotyping with haplotype reconstruction, and analysis of deletion breakpoint. RESULTS: Among 155 index patients, heterozygous germline SDHB pathogenic or likely pathogenic variants were identified in 22 cases (14.2%). The heterozygous SDHB exon 1 complete deletion was the most frequent genetic defect in SDHB, identified in 8 out of 22 (36%) of patients. Haplotype analysis of 5 SDHB flanking microsatellite markers demonstrated a significant difference in haplotype frequencies in a case-control permutation test (P = 0.03). More precisely, 3 closer/informative microsatellites were shared by 6 out of 8 apparently unrelated cases (75%) (SDHB-GATA29A05-D1S2826-D1S2644 | SDHB-186-130-213), which was observed in only 1 chromosome (1/42) without SDHB exon 1 deletion (X2 = 29.43; P < 0.001). Moreover, all cases with SDHB exon 1 deletion had the same gene breakpoint pattern of a 15 678 bp deletion previously described in the Iberian Peninsula, indicating a common origin. CONCLUSION: The germline heterozygous SDHB exon 1 deletion was the most frequent genetic defect in the Brazilian PPGL cohort. Our findings demonstrated a founder effect for the SDHB exon 1 deletion in Brazilian patients with paragangliomas.
Assuntos
Neoplasias das Glândulas Suprarrenais , Paraganglioma , Feocromocitoma , Humanos , Succinato Desidrogenase/genética , Efeito Fundador , Brasil/epidemiologia , Paraganglioma/genética , Paraganglioma/patologia , Feocromocitoma/genética , Éxons/genética , Neoplasias das Glândulas Suprarrenais/genética , Mutação em Linhagem GerminativaRESUMO
Pheochromocytoma is a rare form of secondary hypertension characterized by excessive production of catecholamines typically due to a benign tumor in the adrenal medulla. Among the potential cardiac repercussions of pheochromocytoma and paraganglioma, previous studies described echocardiographic abnormalities such as dynamic left ventricular outflow tract obstruction (i), cardiomyopathy (ii, iii, iv), reversible dilatation of the left ventricle (v) and left ventricular functional changes (vi) in patients with pheochromocytoma.
Assuntos
Neoplasias das Glândulas Suprarrenais , Paraganglioma , Feocromocitoma , Humanos , Catecolaminas , Feocromocitoma/complicações , Feocromocitoma/diagnóstico por imagem , Feocromocitoma/patologia , Paraganglioma/complicações , Paraganglioma/diagnóstico por imagem , Coração , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/patologiaRESUMO
Aproximadamente 1% dos casos de hipertensão infantil grave é causado por Feocromocitoma. Estes tumores são provenientes das células cromafins da medula adrenal e secretores de catecolaminas. Quando situados em região extra-adrenal são chamados de paragangliomas e quando em região adrenal (maioria dos casos) são chamados de feocromocitoma. Os sintomas mais comuns são sudorese e palpitação. Exames laboratoriais como a dosagem de metanefrinas e normetanefrinas urinárias são usados para diagnóstico e devem ser associados a exames de imagem como a Tomografia computadorizada e Ressonância magnética nuclear, este último o padrão ouro. O tratamento curativo é a ressecção tumoral sendo importante o acompanhamento devido aosriscos de recidiva. Nos casos de neoplasia maligna deve-se realizar tratamento quimioterápico. Testes genéticos são indicados devido à relação com doenças hereditárias. O trabalho descreve um relato de caso que aborda o manejo anestésico em criança do sexo masculino, 2 anos de idade, portador de hipertensão arterial sistêmica de difícil controle desde os 12 meses de vida, submetido à suprarrenalectomia aberta à direita sob anestesia geral balanceada e bloqueio de neuroeixo
Approximately 1% of cases of severe childhood hypertension are caused by Pheochromocytoma. These tumors arise from the chromaffin cells of the adrenal medulla and secrete catecholamines. When located in the extra-adrenal region, they are called paragangliomas; and when in the adrenal region (most cases), they are called pheochromocytomas. The most common symptoms are sweating and palpitation. Laboratory tests such as urinary metanephrines and normetanephrines are used for diagnosis and should be associated with imagingtests such as computed tomography and nuclear magnetic resonance, the latterbeing the gold standard. The curative treatment is tumor resection, and follow-up is important due to the risk of recurrence. In cases of malignant neoplasia, chemotherapy treatment should be performed. Genetic tests are indicated due to the relationship with hereditary diseases. The work describes a case report approaching anesthetic management in a 2 year-old male child with difficult to control systemic arterial hypertension since 12 months of age who underwent right-sided open suprarenalectomy under balanced general anesthesia and neuroaxis block