RESUMO
We report the case of a 14 year-old teenager who has SC hemoglobinosis and presented with a tumor syndrome with a retro-peritoneal mass, a supraclavicular lymph node and a mid-renal lesion. The microscopic examination revealed an undifferentiated tumor proliferation infiltrating the lymph node parenchyma. This tumor proliferation was INI1/SMARCB1-deficient, and expressed cytokeratins. Given the fact that the histopathological data showed an undifferentiated INI1-deficient carcinoma and that the patient has a kidney lesion and a sickle cell trait, the final diagnosis was lymph node metastasis of SMARCB1-deficient renal medullary carcinoma (OMS 2022).
Assuntos
Neoplasias Renais , Metástase Linfática , Proteína SMARCB1 , Humanos , Adolescente , Neoplasias Renais/patologia , Neoplasias Renais/genética , Proteína SMARCB1/deficiência , Proteína SMARCB1/genética , Masculino , Carcinoma Medular/patologia , Carcinoma Medular/genética , Traço Falciforme/complicações , Clavícula/patologiaRESUMO
Progressive iron accumulation and renal impairment are prominent in both patients and mouse models of sickle cell disease (SCD). Endothelin A receptor (ETA) antagonism prevents this iron accumulation phenotype and reduces renal iron deposition in the proximal tubules of SCD mice. To better understand the mechanisms of iron metabolism in the kidney and the role of the ETA receptor in iron chelation and transport, we studied renal iron handling in a nonsickle cell iron overload model, heme oxygenase-1 (Hmox-1-/-) knockout mice. We found that Hmox-1-/- mice had elevated plasma endothelin-1 (ET-1), cortical ET-1 mRNA expression, and renal iron content compared with Hmox-1+/+ controls. The ETA receptor antagonist, ambrisentan, attenuated renal iron deposition, without any changes to anemia status in Hmox-1-/- mice. This was accompanied by reduced urinary iron excretion. Finally, ambrisentan had an important iron recycling effect by increasing the expression of the cellular iron exporter, ferroportin-1 (FPN-1), and circulating total iron levels in Hmox-1-/- mice. These findings suggest that the ET-1/ETA signaling pathway contributes to renal iron trafficking in a murine model of iron overload.
Assuntos
Anemia Falciforme , Sobrecarga de Ferro , Anemia Falciforme/complicações , Anemia Falciforme/metabolismo , Animais , Antagonistas do Receptor de Endotelina A/farmacologia , Antagonistas do Receptor de Endotelina A/uso terapêutico , Antagonistas dos Receptores de Endotelina , Endotelina-1/metabolismo , Heme Oxigenase-1/genética , Heme Oxigenase-1/metabolismo , Ferro/metabolismo , Sobrecarga de Ferro/complicações , Sobrecarga de Ferro/metabolismo , Rim/metabolismo , Camundongos , Camundongos Knockout , Receptor de Endotelina A/genética , Receptor de Endotelina A/metabolismoRESUMO
The populations infected with malaria have developed genetic defense mechanisms in order to protect themselves against the most serious complications of this disease. Those mechanisms have been associated from the perspective of co-adaptive process with some genetic diseases widely present in humans as sickle-cell disease, sickle cell trait and glucose-6-phosphate dehydrogenase deficiency (G6PD). Biochemically, polymorphic mutations at the erythrocyte level have been widely studied, however there is no clear statement of the mechanisms used for resistance against the causative agent of malaria. The purpose of this review is to introduce the molecular and biochemical basis of defense mechanisms associated with two of those adaptations: sickle-cell trait and Glucose-6-phosphate Dehydrogenase Deficiency (G6PD). The first one is a hemoglobinopathy while the second one is the most frequent enzymopathy present in humans.
Assuntos
Eritrócitos/parasitologia , Deficiência de Glucosefosfato Desidrogenase/genética , Malária/epidemiologia , Traço Falciforme/genética , Adaptação Fisiológica/genética , Colômbia/epidemiologia , Humanos , Malária/genética , Mutação , Polimorfismo Genético , PrevalênciaRESUMO
As crises de dor crônica ou aguda, de diferente intensidade e recorrência imprevisível, são um dos sintomas mais frequentes na Anemia Falciforme (AF) e tendem a afetar a qualidade de vida dos portadores da doença. Este estudo procurou descrever e comparar a percepção do episódio doloroso da AF entre crianças e seus cuidadores. Participaram 27 pares de cuidador-criança, sendo 11 pares formados por crianças atendidas no Ambulatório de Pediatria do Hospital Universitário Cassiano Antônio de Moraes de Vitória/ES e 16 pares compostos por crianças que frequentavam o Hemocentro de Cuiabá/MT. Os resultados revelaram diferença na percepção de cuidador e criança sobre a caracterização da dor no que se refere ao tipo e à intensidade. As crises de dor interferem, sobretudo, nas atividades do cotidiano. A estratégia de enfrentamento mais utilizada por ambos os grupos centrou-se em pensamentos que envolveram os aspectos negativos da experiência indesejada, o que indica a necessidade de intervenção psicológica com esta população...
The crises of chronic or acute pain, of varying intensity and unpredictable recurrence are one of the most common symptoms in sickle cell disease and tend to affect the quality of life of people with this disease. This study examined the impact of pain on daily life and the coping strategies of caregivers and children with sickle cell anemia. The participants were 27 pairs of caregiver-child, being formed by 11 pairs of children treated at the Pediatric Clinic of the Hospital Universitario Cassiano Antonio de Moraes Vitória / ES and sixteen pairs composed of children who attended the Blood Center of Cuiabá / MT. The results revealed differences in perception of the caregiver and child characterization of pain regarding type and intensity. The pain crises interfere, mainly in daily activities. The most frequently used coping strategy focused on thoughts that involve the negative aspects of the unwanted experience...
Las crisis de dolor agudo o crónico de diferente intensidad y recurrencia impredecible son uno de los síntomas más comunes de la enfermedad de células falciformes y tienden a afectar a la calidad de vida de quienes la padecen. Este estudio trata de describir y comparar la percepción del doloroso episodio de anemia falciforme entre los niños y sus cuidadores. Entre los participantes había 27 pares de cuidador-niño, estando formados por 11 hijos parejas tratadas en la Clínica Pediátrica del Hospital Universitario Cassiano Antonio de Moraes Vitória/ES y 16 pares integrados por niños que asisten al Hemocentro de Cuiabá/MT. Los resultados revelaron diferencias en la percepción del niño y cuidador de la caracterización del dolor en cuanto al tipo e intensidad. Las crisis de dolor interfieren especialmente en las actividades cotidianas. La estrategia de afrontamiento más utilizada por ambos grupos se centró en pensamientos que incumban a los aspectos negativos de la experiencia no deseada, lo que indica la necesidad de intervención psicológica con esta población...
Les épisodes de douleur aiguë ou chronique, d'une intensité différente et récurrence imprévisible sont un des symptômes plus fréquents dans la maladie d'anémie falciforme et ont tendance à affecter la qualité de vie des personnes atteintes de la maladie. Cet étude a examiné l'impact de la douleur quotidienne et stratégies d'adaptation des soignants et des enfants atteints d'anémie falciforme. Ont participé de cet étude 27 paires de soignant-enfant, parmi eux, 11 couples ont étés formés par des enfants assistés à la clinique pédiatrique de l'Hôpital Universitaire Cassiano Antônio de Moraes de Vitória/ES, et 16 paires ont étés composés d'enfants qui ont fréquenté le Hemocentro de Cuiabá/MT. Les résultats ont révélé les différences dans la perception du soignant et des l'enfant sur la caractérisation de la douleur en ce qui concerne le type et l'intensité. Les épisodes de douleur interfèrent, en particulier, dans l'activités de la vie quotidienne. L'stratégie d'adaptation la plus utilisée a été axé sur les pensées qui comportent des aspects négatifs de l'expérience non souhaité...