RESUMO
A 39-year-old woman with autosomal dominant polycystic kidney disease (ADPKD) presented with acromegaly and a pituitary macroadenoma. There was a family history of this renal disorder. She had undergone surgery for pituitary adenoma 6 years prior. Physical examination disclosed bitemporal hemianopsia and elevation of both basal growth hormone (GH) 106 ng/mL (normal 0-5) and insulin-like growth factor (IGF-1) 811 ng/mL (normal 48-255) blood levels. A magnetic resonance imaging scan disclosed a 3.0 cm sellar and suprasellar mass with both optic chiasm compression and left cavernous sinus invasion. Pathologic, cytogenetic, molecular and in silico analysis was undertaken. Histologic, immunohistochemical and ultrastructural studies of the lesion disclosed a sparsely granulated somatotroph adenoma. Standard chromosome analysis on the blood sample showed no abnormality. Sequence analysis of the coding regions of PKD1 and PKD2 employing DNA from both peripheral leukocytes and the tumor revealed the most common PKD1 mutation, 5014_5015delAG. Analysis of the entire SSTR5 gene disclosed the variant c.142C>A (p.L48M, rs4988483) in the heterozygous state in both blood and tumor, while no pathogenic mutations were noted in the MEN1, AIP, p27Kip1 and SSTR2 genes. To our knowledge, this is the fourth reported case of a GH-producing pituitary adenoma associated with ADPKD, but the first subjected to extensive morphological, ultrastructural, cytogenetic and molecular studies. The physical proximity of the PKD1 and SSTR5 genes on chromosome 16 suggests a causal relationship between ADPKD and somatotroph adenoma.
Assuntos
Acromegalia/complicações , Acromegalia/genética , Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações , Adenoma Hipofisário Secretor de Hormônio do Crescimento/genética , Neoplasias Hipofisárias/complicações , Rim Policístico Autossômico Dominante/complicações , Rim Policístico Autossômico Dominante/genética , Receptores de Somatostatina/genética , Canais de Cátion TRPP/genética , Acromegalia/patologia , Adenoma/complicações , Adenoma/genética , Adulto , Sequência de Bases , Feminino , Humanos , Hipófise/patologia , Neoplasias Hipofisárias/genética , Neoplasias Hipofisárias/patologia , Polimorfismo GenéticoRESUMO
Theoretical reflection concerning the human body within a scenario of social healthcare practices recognizes its nature through ontological dimensions for defining our finiteness and facticity in a world where nobody experiences their own birth or death but rather experiences such events through others. Considering health as an overall process called existence, being conscious of one's own body in terms of dynamic states of health and disease, is related to scenarios where the body has played a central role in the existential experience of the culture which it has built and in which it has been living, as well as in the relationship of knowledge with how power is exercised. Relationships between knowledge, power, resistance and the action of bodies are scenarios concerning social vulnerability regarding health. We wish to raise awareness concerning the relationship between bodies and social vulnerability regarding health as an emergent scenario for promoting discussion dealing with claiming the right to health and the chances of it being positively affected by public health policy from a trans-sector response and a community-based response proposed by Colombian society and culture.
Assuntos
Antropologia Médica , Corpo Humano , Filosofia , Humanos , Fatores SociológicosRESUMO
La reflexión teórica sobre el cuerpo en el escenario de las prácticas sociales en salud a partir de dimensiones ontológicas reconoce su naturaleza para definir nuestra finitud y facticidad en un mundo donde no experimenta su propio nacimiento y muerte, sino que lo experimentamos en los otros. Al considerar la salud como un proceso global llamado existencia, ser conscientes de nuestro propio cuerpo en términos de estados dinámicos de salud-enfermedad está relacionado con escenarios donde el cuerpo ha sido central como experiencia existencial de la cultura que ha construido y vivido, así como en la interrelación del conocimiento con el ejercicio del poder. Las relaciones entre saber, poder, resistencia, y la misma acción de los cuerpos son escenarios de vulnerabilidad social en salud. El escenario emergente que pretendemos hacer visible son las relaciones de los cuerpos con la vulnerabilidad social en salud, con el ánimo de promover el debate sobre el ejercicio del derecho a la salud y las posibilidades de afectarlo positivamente, tanto desde la respuesta transectorial de construcción de políticas públicas en salud como desde la respuesta comunitaria que la población colombiana puede proponer desde la sociedad y la cultura.
Theoretical reflection concerning the human body within a scenario of social healthcare practices recognizes its nature through ontological dimensions for defining our finiteness and facticity in a world where nobody experiences their own birth or death but rather experiences such events through others. Considering health as an overall process called existence, being conscious of one's own body in terms of dynamic states of health and disease, is related to scenarios where the body has played a central role in the existential experience of the culture which it has built and in which it has been living, as well as in the relationship of knowledge with how power is exercised. Relationships between knowledge, power, resistance and the action of bodies are scenarios concerning social vulnerability regarding health. We wish to raise awareness concerning the relationship between bodies and social vulnerability regarding health as an emergent scenario for promoting discussion dealing with claiming the right to health and the chances of it being positively affected by public health policy from a trans-sector response and a community-based response proposed by Colombian society and culture.