Assuntos
Hipertensão Portal , Humanos , Gravidez , Feminino , Hipertensão Portal/diagnóstico , Hipertensão Portal/complicações , Hipertensão Portal/etiologia , Adulto , Policitemia/diagnóstico , Policitemia/etiologia , Policitemia/complicações , Complicações Hematológicas na Gravidez/diagnóstico , Complicações Cardiovasculares na Gravidez/diagnóstico , Trombocitemia Essencial/complicações , Trombocitemia Essencial/diagnósticoRESUMO
BACKGROUND: Pulmonary arteriovenous malformations are a relatively uncommon medical condition, affecting roughly 1 in every 2500 individuals. Of those suffering from pulmonary arteriovenous malformations, 80% have an underlying genetic condition: hereditary hemorrhagic telangiectasia. CASE PRESENTATION: We present the case of a 20-year-old Pakistani male with a history of persistent slower-onset frontal headaches that increased in severity within the course of the day. His hemoglobin was 18 g/dl, indicating polycythemia, for which he had undergone seven venesections in a month previously. His physical examination was unremarkable. His computed tomography scan depicted multiple dilated tortuous vessels with branching linear opacities in the right lower lobe of the lungs. The multiple feeding arteries were supplied by the right main pulmonary artery, and the large draining veins led to the right inferior pulmonary vein. This was identified as a diffuse pulmonary arteriovenous malformation. He was recommended for a right pulmonary artery angiogram. It showed multiple tortuous vessels with a nidus and large draining veins-features of a diffuse arteriovenous malformation in the right lower lobe of the lung consistent with the computed tomography scan. Embolization of two of these vessels feeding the arteriovenous malformation was conducted, using Amplatzer Vascular plug 2, whereas multiple pushable coils (five coils) were used for embolizing the third feeding vessel. This achieved 70-80% successful embolization of right pulmonary AVM; however, some residual flow was still seen in the arteriovenous malformation given the complexity of the lesion. Immediately after, his oxygen saturation improved from 78% to 96%. CONCLUSION: Diffuse pulmonary arteriovenous malformations, as seen in this patient, are rare, accounting for less than 5% of total pulmonary arteriovenous malformations diagnosed. The patient presented with a complaint of progressive frontal headaches, which can be attributed to low oxygen saturation or the presence of a cerebral arteriovenous malformation. There was no history of hereditary hemorrhagic telangiectasia in the patient's family. Furthermore, although most patients with hereditary hemorrhagic telangiectasia and hence pulmonary arteriovenous malformation have complaints of iron-deficiency anemia, our patient in contrast was suffering from polycythemia. This can be explained as a compensatory mechanism in hypoxemic conditions. Moreover, the patient had no complaint of hemoptysis or epistaxis, giving a varied presentation in comparison with a typical pulmonary arteriovenous malformation.
Assuntos
Malformações Arteriovenosas , Embolização Terapêutica , Cefaleia , Policitemia , Artéria Pulmonar , Veias Pulmonares , Humanos , Masculino , Policitemia/complicações , Veias Pulmonares/anormalidades , Veias Pulmonares/diagnóstico por imagem , Artéria Pulmonar/anormalidades , Artéria Pulmonar/diagnóstico por imagem , Adulto Jovem , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/diagnóstico por imagem , Cefaleia/etiologia , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Fístula ArteriovenosaRESUMO
Background and Objectives: Liver cancer poses a significant global health threat, ranking among the top three causes of cancer-related deaths. Patients with hepatocellular carcinoma (HCC) often present with symptoms associated with neoplasms or unusual clinical features such as paraneoplastic syndromes (PNS), including hypoglycemia, hypercholesterolemia, thrombocytosis, and erythrocytosis. Our study aimed to investigate the prevalence, clinical characteristics, and survival outcomes associated with PNS in HCC patients and assess each PNS's impact on patient survival. Materials and Methods: We conducted a retrospective analysis of PNS clinical features and survival among consecutive HCC patients diagnosed at our department over seven years, comparing them with HCC patients without PNS. The study involved a retrospective data evaluation from 378 patients diagnosed with HCC between January 2016 and October 2023. Results: We obtained a PNS prevalence of 25.7%, with paraneoplastic hypercholesterolemia at 10.9%, hypoglycemia at 6.9%, erythrocytosis at 4.5%, and thrombocytosis at 3.4%. Patients with PNS tended to be younger and predominantly male. Multivariate analysis revealed a strong correlation between PNS and levels of alpha-fetoprotein and tumor size, with diabetes also showing a significant statistical association (p < 0.05). Subgroup analysis based on specific paraneoplastic syndromes demonstrated shorter survival in patients with PNS, albeit without significant statistical differences, except for hypoglycemia (p < 0.0001). Matched analysis indicated a shorter survival rate for patients with PNS, although no significant statistical differences were observed. Conclusions: PNS are frequently observed in HCC cases and are associated with unfavorable prognoses and decreased survival rates due to their correlation with increased tumor burdens. However, they do not independently predict poor survival. The impact of individual PNS on HCC prognosis varies.
Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , Síndromes Paraneoplásicas , Humanos , Masculino , Estudos Retrospectivos , Carcinoma Hepatocelular/mortalidade , Carcinoma Hepatocelular/epidemiologia , Carcinoma Hepatocelular/complicações , Feminino , Síndromes Paraneoplásicas/epidemiologia , Síndromes Paraneoplásicas/mortalidade , Pessoa de Meia-Idade , Neoplasias Hepáticas/mortalidade , Neoplasias Hepáticas/epidemiologia , Neoplasias Hepáticas/complicações , Idoso , Prevalência , Adulto , Análise de Sobrevida , Hipercolesterolemia/epidemiologia , Hipercolesterolemia/complicações , Hipoglicemia/epidemiologia , Hipoglicemia/complicações , Policitemia/epidemiologia , Policitemia/complicações , Idoso de 80 Anos ou mais , Trombocitose/epidemiologia , Trombocitose/complicaçõesRESUMO
Continuously holding its position as the sixth most common cause of cancer and the third leading cause of cancer death, globally, Hepatocellular Carcinoma (HCC) remains as a healthcare priority. Production of various substances may result into systemic or metabolic complications, often known as paraneoplastic phenomena of HCC. A 56-year-old male with history of untreated chronic hepatitis B arrived with generalized weakness and intermittent headache in the last two days prior to admission. Laboratory findings demonstrated elevated hemoglobin (20.5 g/dl), alpha-fetoprotein (29,845 ng/dl), and d-Dimer (2,120 ng/ml) levels. Hypoglycemia (44 mg/dl) was documented with normal basal insulin level, confirming non-islet cell tumor hypoglycemia. Abdominal multiphasic CT-scan demonstrated a large solid lesion involving the whole right liver lobe, hyper-enhanced at arterial phase and wash-out pattern at venous and delayed phases, with portal vein thrombosis; thus, confirming HCC BCLC C. Further examinations revealed hypercellularity from bone marrow biopsy with the absence of JAK2 mutation. He underwent serial phlebotomy and received 80 mg acetylsalicylic acid orally, as well as cytoreductive agent to reduce the risk of thrombosis. Despite applications of different interventions, control of hypoglycemia could not be achieved without parenteral administration of high dextrose load. He was planned to receive oral multikinase inhibitor, however, he passed away due to severe hospital-acquired pneumonia. Paraneoplastic phenomena are common in HCC. Increased risk of blood hyper-viscosity and thrombosis attributed to polycythemia, as well as medical emergency resulting from hypoglycemia showed that both conditions should not be overlooked since they may worsen the patient's prognosis.
Assuntos
Carcinoma Hepatocelular , Hipoglicemia , Neoplasias Hepáticas , Policitemia , Trombose , Masculino , Humanos , Pessoa de Meia-Idade , Carcinoma Hepatocelular/patologia , Neoplasias Hepáticas/patologia , Policitemia/complicações , Trombose/complicações , Hipoglicemia/etiologiaRESUMO
BACKGROUND: Morphologically, the risk of aortic aneurysm rupture is mainly evaluated based on its type (e.g., fusiform or saccular) and diameter. Based on the finite element analysis, peak wall stress has been identified as a more sensitive and specific predictor of rupture in recent years. Moreover, in finite analysis, the neck of aneurysm is the highest peak wall stress and is associated with the rupture point. CASE PRESENTATION: A saccular aortic aneurysm (84 mm) was incidentally detected during preoperative examination for chronic empyema in a 74-year-old male patient with a history of polycythemia. Aortic arch graft replacement using an open stent was performed. CONCLUSIONS: Morphologically, this case was associated with a very high risk of rupture; nevertheless, it did not rupture. In this case, a mural thrombus (likely formed due to polycythemia) covered the neck of aneurysm that is experiencing the highest peak wall stress and is associated with the rupture point. The mural thrombus decreased peak wall stress and could reduce the risk of rupture even for huge saccular aneurysms. Furthermore, the mural thrombus was fully occupied in aneurysms, such as during coil embolization. Thus, polycythemia could decrease the risk of rupture of huge saccular aneurysms.
Assuntos
Aneurisma da Aorta Abdominal , Aneurisma Aórtico , Ruptura Aórtica , Policitemia , Tromboembolia , Trombose , Masculino , Humanos , Idoso , Policitemia/complicações , Aneurisma Aórtico/complicações , Ruptura Aórtica/complicações , Trombose/complicações , Trombose/cirurgia , Tromboembolia/complicações , Aneurisma da Aorta Abdominal/complicaçõesRESUMO
INTRODUCTION: Cyanotic nephropathy, a rare disease characterized by proteinuria, decreased estimated glomerular filtration rate, thrombocytopenia, polycythemia, and hyperuricemia, may occasionally be secondary to cyanotic congenital heart disease (CHD). There are currently no detailed diagnostic criteria or treatments for cyanotic nephropathy, owing to its extremely low incidence. Eisenmenger syndrome (ES) was initially defined by Paul Wood in pathophysiologic terms as "pulmonary hypertension (PH) at the systemic level, caused by a high pulmonary vascular resistance, with a reversed or bidirectional shunt at the aorto-pulmonary, ventricular, or atrial level." It typically develops in the presence of large, unrepaired atrial or ventricular septal defects, arterial shunts, or complex forms of CHD and is the most severe hemodynamic phenotype of pulmonary arterial hypertension associated with CHD. This study aimed to outline the case of an ES patient who developed cyanotic nephropathy and successfully achieved clinical remission through primary disease treatment and symptomatic management. Overall, this case expands our understanding of cyanotic nephropathy and lays a theoretical reference for the treatment of ES. CASE PRESENTATION: A 33-year-old Chinese female attended the outpatient department with abnormal urine test results over the past two and a half years. Following a comprehensive medical history collection, she underwent the necessary tests. Cardiac color ultrasound displayed a significant widening of the pulmonary artery and PH (severe), as well as mild tricuspid regurgitation and patent ductus arteriosus. The results of the kidney biopsy, combined with clinical findings, suggested a high risk of polycythemia-related kidney disease. She was eventually diagnosed with cyanotic nephropathy and ES. Her symptoms were relieved following symptomatic treatment, such as the administration of ambrisentan, febuxostat, and home oxygen therapy. Her follow-up visit at 6 months demonstrated improvements in hyperuricemia and a significant increase in physical strength. CONCLUSION: Cyanotic nephropathy is a rare condition in adults. Kidney biopsy remains the gold standard of diagnosis for various nephropathies. Active treatment of CHD and alleviating hypoxia may be pivotal for the treatment of cyanotic nephropathy.
Assuntos
Complexo de Eisenmenger , Humanos , Feminino , Adulto , Complexo de Eisenmenger/complicações , Complexo de Eisenmenger/terapia , Nefropatias/etiologia , Cianose/etiologia , Policitemia/complicações , Policitemia/terapiaRESUMO
Rana, Vipin, Pradeep Kumar, Sandeepan Bandopadhyay, Vijay K. Sharma, Meenu Dangi, Dattakiran Joshi, Sanjay Kumar Mishra, Satyabrat Srikumar, and V.A. Arun. Central retinal artery occlusion in young adults at high altitude: thin air, high stakes. High Alt Med Biol. 00:000-000, 2024.-We present five cases of young security personnel who were posted at high altitude (HA) for a duration of at least 6 months and presented with a sudden decrease of vision in one eye. The diagnosis of central retinal artery occlusion (CRAO) was made in all patients. Fundus fluorescein angiography and optical coherence tomography of the macula supported the diagnosis. None of these cases had any preexisting comorbidities. Erythrocytosis was noticed in all patients, and two of them had hyperhomocysteinemia. Four out of five patients showed either middle cerebral artery or internal carotid artery (ICA) thrombosis on computed tomography angiography. The patients were managed by a team of ophthalmologist, hematologist, vascular surgeon, and neurologist. In cases of incomplete ICA occlusion, patients were managed surgically. However, in the case of complete ICA occlusion, management was conservative with antiplatelet drugs. This case series highlights HA-associated erythrocytosis and hyperhomocysteinemia as important risk factors for CRAO in young individuals stationed at HA.
Assuntos
Altitude , Angiofluoresceinografia , Oclusão da Artéria Retiniana , Humanos , Oclusão da Artéria Retiniana/etiologia , Masculino , Adulto , Angiofluoresceinografia/métodos , Adulto Jovem , Tomografia de Coerência Óptica , Policitemia/complicações , Policitemia/etiologia , Artéria Carótida Interna/diagnóstico por imagem , Artéria Cerebral Média/diagnóstico por imagem , Feminino , Angiografia por Tomografia Computadorizada , Trombose/diagnóstico por imagem , Trombose/etiologiaRESUMO
Myomatous erythrocytosis syndrome (MES) is a rare form of secondary erythrocytosis seen with myomas. Here, we present a case of a postmenopausal, nulliparous woman in her 50s incidentally found to have asymptomatic erythrocytosis on routine laboratory work. She was found to have an 18.5 cm myoma and after surgical resection, the patient's haematological values returned to normal ranges after a few weeks. This established the diagnosis as MES. The aetiology of MES continues to remain unknown but is most likely caused by an autonomous production of erythropoietin from the myomatous tissue. This case highlights obtaining a detailed history and physical examination to differentiate between the different causes of erythrocytosis, considering MES as a rare cause of secondary erythrocytosis and to prevent unnecessary procedures such as phlebotomy as surgery is the mainstay of treatment.
Assuntos
Leiomioma , Mioma , Policitemia , Neoplasias Uterinas , Feminino , Humanos , Neoplasias Uterinas/complicações , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirurgia , Policitemia/complicações , Policitemia/diagnóstico , Leiomioma/complicações , Leiomioma/diagnóstico , Leiomioma/cirurgia , SíndromeRESUMO
The prothrombin time (PT) test is commonly used to monitor deficiencies in coagulation factors. A prolonged PT may indicate a deficiency of factors II, V, VII, X, and fibrinogen, or the presence of an inhibitor. However, further tests are required to differentiate between a true factor deficiency and the presence of an inhibitor. It is important to note that falsely prolonged PT can lead to misdiagnosis and inappropriate clinical intervention that can have life-threatening consequences. A 19-year-old woman with elevated hematocrit levels and prolonged PT was diagnosed with secondary erythrocytosis due to cyanotic congenital heart disease with ventricular septal defect (VSD). However, further investigation revealed that the prolonged PT result was false. Excess citrate in the blood sample, caused by polycythemia, led to this misleading outcome, resulting in unnecessary and potentially harmful treatment. This incident emphasizes the importance of laboratory personnel and clinicians being aware of the test's limitations. Not only should specialists in thrombosis and hemostasis possess this knowledge, but it is also pertinent for general laboratory staff, as well as laboratory directors and specialists. The significance of accurate laboratory testing for the proper diagnosis and treatment of patients is highlighted in this case.
Assuntos
Transtornos da Coagulação Sanguínea , Policitemia , Feminino , Humanos , Adulto Jovem , Adulto , Tempo de Protrombina/métodos , Policitemia/complicações , Policitemia/diagnóstico , Transtornos da Coagulação Sanguínea/complicações , Fatores de Coagulação Sanguínea , Coagulação SanguíneaRESUMO
Secondary polycythemia is commonly observed among patients with chronic pulmonary diseases. However, its significance in the context of Coronavirus disease 2019 (COVID-19) is unknown. We retrospectively evaluated a total of 5872 hospitalized COVID-19 patients with mostly severe and critical symptoms, and without prior or subsequently diagnosed myeloproliferative neoplasm. Patients were stratified based on admission hemoglobin into four subgroups: anemia (hemoglobin <120 g/L for females and 130 g/L for males), normal hemoglobin, mild (hemoglobin 160-165 g/L for females and 165-185 g/L for males) and severe polycythemia (hemoglobin >165 g/L for females and >185 g/L for males). Among 5872 patients, a total of 158 (2.7%) had mild and 25 (0.4%) severe polycythemia. Polycythemia was significantly associated with higher respiratory and functional impairment, reduced plasma volume, higher serum osmolarity and comorbidity burden specific to the degree of polycythemia. Patients presenting with mild (odds ratio (OR) = 1.63, p = .003) and severe polycythemia (OR = 4.98, p < .001) had increased risk of death in comparison to patients with normal hemoglobin, whereas no significant associations with venous thromboembolism, arterial thrombosis nor major bleeding were observed. Anemia was associated with higher risk of death (OR = 1.42, p < .001), venous thromboembolism (OR = 1.34, p < .006) and major bleeding (OR = 2.27, p < .001) in comparison to normal hemoglobin. Associations of polycythemia and anemia with mortality diminished, and anemia with venous thromboembolism and major bleeding persisted, after multivariate adjustments for age, sex, comorbidities, COVID-19 severity and functional status. Secondary polycythemia in hospitalized COVID-19 patients without prior of subsequently diagnosed myeloproliferative neoplasm is rare and is associated with high mortality, increasing with degree of polycythemia, but not markedly higher thrombotic risk.
Assuntos
COVID-19 , Policitemia , Trombose , Humanos , COVID-19/complicações , COVID-19/mortalidade , COVID-19/sangue , Policitemia/sangue , Policitemia/complicações , Feminino , Masculino , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Trombose/mortalidade , Trombose/etiologia , Fatores de Risco , SARS-CoV-2 , Idoso de 80 Anos ou mais , Comorbidade , Hemoglobinas/análise , Hemoglobinas/metabolismoRESUMO
Here we report a case series of two dogs diagnosed as renal interstitial cell tumor (RICT) accompanied by elevated serum erythropoietin level and marked polycythemia. RICT is a rare tumor in dogs, originating from renal interstitial cells. While several renal tumors such as renal lymphoma, adenocarcinoma, carcinoma, sarcoma, fibrosarcoma and nephroblastoma may cause polycythemia, polycythemia caused by RICT has never been reported in dogs. The tumors in both dogs were solitary and lied within cortex or cortico-medullary junction. Histopathology revealed spindle-shaped cells suggesting mesenchymal origin, with no mitotic figures suggesting that the tumors in both dogs were benign. Following surgical removal of the affected kidney, serum erythropoietin level and polycythemia normalized in both dogs.
Assuntos
Doenças do Cão , Eritropoetina , Neoplasias Renais , Tumor de Células de Leydig , Policitemia , Masculino , Cães , Animais , Policitemia/veterinária , Policitemia/complicações , Tumor de Células de Leydig/veterinária , Doenças do Cão/etiologia , Doenças do Cão/cirurgia , Neoplasias Renais/veterináriaRESUMO
Wang, Si-Yang, Jun Liang, and Jing-Hong Zhao. A Case of High-Altitude Renal Syndrome. High Alt Med Biol. 00:000-000, 2024.-Epidemiological studies have confirmed that high-altitude exposure increases the risk of proteinuria. The concept of high-altitude renal syndrome (HARS) was proposed in 2011. HARS is a group of clinical syndromes consisting of high-altitude polycythemia, hyperuricemia, systemic hypertension, and microalbuminuria. At present, no standardized and unified treatment methods of HARS have been proposed. We report a case of HARS without other organ involvement in a young man exposed to high altitude. Decreasing the red blood cell count and hemodynamic changes as soon as possible may be of great importance for reducing proteinuria. In addition, angiotensin receptor blockers are effective in the treatment of HARS.
Assuntos
Doença da Altitude , Altitude , Humanos , Masculino , Doença da Altitude/complicações , Doença da Altitude/fisiopatologia , Policitemia/etiologia , Policitemia/complicações , Policitemia/terapia , Adulto , Proteinúria/etiologia , Hiperuricemia/complicaçõesAssuntos
Ascite , Imunoglobulina M , Paraproteinemias , Policitemia , Telangiectasia , Idoso , Humanos , Pessoa de Meia-Idade , Ascite/etiologia , Ascite/diagnóstico , Ascite/patologia , Imunoglobulina M/sangue , Paraproteinemias/diagnóstico , Paraproteinemias/complicações , Policitemia/diagnóstico , Policitemia/etiologia , Policitemia/complicações , Síndrome , Telangiectasia/diagnóstico , Telangiectasia/etiologia , Telangiectasia/patologiaRESUMO
La policitemia primaria es producida por una mutación adquirida o heredada en las células progenitoras de los glóbulos rojos, mientras que la poliglobulia secundaria está relacionada con un aumento de la eritropoyetina sérica como respuesta a la hipoxia tisular o a la producción autónoma tumoral. Hace más de medio siglo que se conoce que la hidronefrosis puede actuar como una rara causa de eritrocitosis debido al aumento de producción de eritropoyetina por un riñón que censa una disminución de oxígeno, mecanismo también observado en la estenosis de la arteria renal y en los quistes renales. Se describe a continuación el caso de un paciente de 38 años con poliglobulia atendido en el Hospital Italiano de San Justo (Argentina), que presenta como hallazgo una hidronefrosis unilateral severa y cuya resolución quirúrgica a través de una nefrectomía revierte el cuadro hematológico de base. (AU)
Primary polycythemia is produced by an acquired or inherited mutation in progenitor cells of red blood cells, while secondary polyglobulia is related to an increase in serum erythropoietin in response to tissue hypoxia or autonomous tumor production. Since the middle of the twentieth century, the hydronephrosis is known to be a rare etiology of secondary polycythemia, with increased erythropoietin production caused by diminished oxygen sensing by the kidney, also seen in renal artery stenosis and kidney cysts. We describe a case of a 38 year old patient with polycythemia studied in the "Hospital Italiano de San Justo" (Argentina) that presented an incidental severe unilateral hydronephrosis, and nephrectomy was carried out as a final resolution of the hematological disorder. (AU)
Assuntos
Humanos , Animais , Masculino , Adulto , Pessoa de Meia-Idade , Policitemia/diagnóstico , Pielonefrite/diagnóstico , Infecções Urinárias/complicações , Eritropoetina/sangue , Hidronefrose/diagnóstico , Nefrectomia/tendências , Policitemia/complicações , Policitemia/etiologia , Pielonefrite/sangue , Obstrução da Artéria Renal/patologia , Dor Lombar , Hipóxia-Isquemia Encefálica/patologia , Eritrócitos/fisiologia , Doenças Renais Císticas/patologia , Disuria , Febre , Hidronefrose/cirurgia , Hidronefrose/complicações , Anemia , Nefrectomia/métodosRESUMO
Abstract Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.
Resumo A síndrome de Bartter compreende um grupo raro de doenças autossômicas recessivas perdedoras de sal, decorrentes de mutações em genes expressos na porção ascendente espessa da alça de Henle, com fenótipos distintos, porém fisiopatogenia única, que consiste em redução severa da reabsorção de sódio, e aumento da excreção urinária de hidrogênio e potássio, levando à alcalose hipocalêmica. A síndrome de Bartter tipo IV, causada por mutações com perda de função da bartina, uma subunidade do canal de cloro CLC-Kb expressa no rim e ouvido interno, geralmente se apresenta nos períodos ante e neonatal. No presente relato, descreve-se um caso não usual de síndrome de Bartter tipo IV com apresentação tardia e fenótipo atenuado, diagnosticado por análise molecular, em um homem adulto de 20 anos que se apresentava com hipocalemia, surdez, hiperparatireoidismo secundário e eritrocitose.
Assuntos
Humanos , Masculino , Adulto Jovem , Síndrome de Bartter/complicações , Policitemia/complicações , Alcalose/metabolismo , Brasil , Síndrome de Bartter/genética , Canais de Cloreto/genética , Canais de Cloreto/metabolismo , Surdez/complicações , Hiperparatireoidismo Secundário/complicações , Hipopotassemia/complicações , Transtornos de Início Tardio/genética , Fenótipo , Potássio/urinaRESUMO
La corea es un trastorno del movimiento que tiene a la eritrocitosis como causa poco frecuente. La eritrocitosis o poliglobulia es el aumento de la masa eritrocitaria absoluta y su causa primaria más frecuente es la policitemia vera. Entre las causas secundarias adquiridas figura la eritrocitosis por hipoxia central, como la que ocurre en los habitantes de grandes alturas. La corea es una manifestación neurológica rara de la eritrocitosis, se presenta en 0,5 a 2% de estos pacientes. Se reporta el caso de un paciente de sexo masculino de 71 años de edad que presentó corea generalizada, de inicio súbito, a predominio orolinguofacial y de extremidades inferiores, secundario a eritrocitosis adquirida, que mejoró tras la disminución del hematocrito mediante sesiones sucesivas de flebotomías.
Chorea is a movement disorder which is rarely caused by erythrocytosis. Erithrocytosis or polycythemia is the augmentation of the absolute erythrocytic mass and its most common primary cause is polycythemia vera. Some of the secondary causes are erythrocytosis by central hipoxia occurring in people who live in the highlands. Chore is a rare neurological manifestation of erythrocytosis occurring in 0.5 to 2% of these patients. There was a report of a 71 year-old male patient with generalized chorea of sudden onset predominant in mouth, tongue and face and lower limbs, secondary to acquired erythrocytosis, which improved after the number of erythrocytes decreased through successive sessions of phlebotomy.
Assuntos
Idoso , Humanos , Masculino , Altitude , Coreia/etiologia , Policitemia/complicaçõesRESUMO
Background: We report a 21-year-old male, presenting with erythromelalgia and polycythe-mia. A solid renal mass of the lower pole of the right kidney was discovered. The patient was subjected to a right open partial nephrectomy. The pathological study of the surgical specimen showed a metanephric adenoma of the kidney. The patient had an uneventful postoperative evolution. Currently the patient is in good health without evidence of recurrence of the tumor and normal hematological parameters.
Assuntos
Humanos , Masculino , Adulto Jovem , Adenoma/complicações , Carcinoma de Células Renais/complicações , Eritromelalgia/complicações , Neoplasias Renais/complicações , Policitemia/complicações , Adenoma/patologia , Neoplasias Renais/patologiaRESUMO
O diabetes mellitus gestacional (DMG) está associado a um risco aumentado de complicações fetais, neonatais e no desenvolvimento a longo prazo. As taxas de aborto espontâneo, natimorto, mal formações congênitas e morbidade e mortalidade perinatal são maiores em filhos de mães diabéticas. As principais complicações neonatais são: macrossomia, hipoglicemia neonatal, deficiência de ferro, alterações da função cardiorrespiratória, hiperbilirrubinemia, anormalidades neurológicas, hipocalcemia, hipomagnesemia e policitemia. A macrossomia predispõe a lesões do parto, especialmente distócia de ombro, maior risco de lesão do plexo braquial, fraturas de clavícula ou do úmero, asfixia perinatal, e, menos frequentemente, hemorragia subdural e paralisia facial. O controle glicêmico rigoroso pré-concepção e durante a gestação associa-se com menor morbimortalidade perinatal. Assim, o controle do DMG representa tarefa de fundamental importância para impedir sequelas em neonatais. (AU)
The gestational diabetes mellitus (GDM) is associated with an increased risk of fetal, neonatal, and possibly long-term complications. The rates of spontaneous abortion, stillbirth, congenital malformations, and perinatal morbidity and mortality are higher in infants of a diabetic mother than in pregnancies with normal glycemic control. The main neonatal complications are: macrosomia, neonatal hypoglycemia, iron deficiency, changes in cardiac and respiratory function, hyperbilirubinemia, neurological abnormalities, hypocalcemia, hypomagnesemia and polycythemia. Macrosomia predisposes to birth injury, especially shoulder dystocia, increased risk of brachial plexus injury, clavicular or humeral fractures, perinatal asphyxia, and, less often, subdural hemorrhage and facial palsy. Strict glycemic control preconception and during pregnancy is associated with lower perinatal morbidity and mortality. Thus, GDM control is of paramount importance to prevent neonatal harm. (AU)