Amiloidosis como causa de insuficiencia cardiaca / Amyloidosis as a cause of heart failure

El término amiloidosis cardiaca hace referencia a la afección del corazón como consecuencia del depósito de amiloide en el tejido cardiaco, ya sea en el contexto de una afección sistémica o de una forma localizada. Se presenta un caso donde se analiza la fisiopatología y el diagnóstico de esta enfermedad. La miocardiopatía por amiloidosis es una enfermedad inflamatoria infiltrativa que con frecuencia no es sospechada. El ecocardiograma no siempre permite identificar el clásico patrón infiltrativo restrictivo(AU)

The term cardiac amyloidosis refers to a heart affection which is a consequence of the accumulation of amyloid in the heart tissue that can appear in the context of a systemic affection or in a localized form. A case is presented and it is analyzed the physiopathology and the diagnosis of this disease. Miocardiopathy by amyloidosis is an infiltrative inflammatory disease that is not frequently suspected. Echocardiogram not always allows identifying the classic restrictive infiltrative pattern(AU)

Amiloidosis asociada a diálisis en el conducto auditivo externo, presentación de un caso clínico y revisión de la literatura / Oialysis related amiloydosis of the external auditory canal, case report and review of the literature

La amiloidosis asociada a diálisis es una patología causada por depósito de fibrillas amiloides constituidas por la proteína beta 2 microglobulina1-5. Es una complicación seria y excepcional que ocurre en pacientes sometidos a hemodiálisis de larga data. El caso que presentamos corresponde a un paciente de 56 años en hemodiálisis hace 36 añ os, con amiloidosis del conducto auditivo externo bilateral. Sólo 13 casos de amiloidosis en el conducto auditivo externo, incluido éste han sido reportados en la literatura66-14. Este corresponde al tercercaso de amiloidosis asociada a diálisis del conducto auditivo externo reportado en la literaturaf6,10.

Dialysis related amyloidosis is a disorder caused by deposition of amyloid fibrils formed by beta-2 microglobulin1-5. It is a serious and exceptional complication in patients undergoing longterm hemodialysis. The present case involved a 56 years old man who had been on hemodialysis for 36 years with bilateral amyloidosis of the external auditory canal. Only 13 cases of amyloidosis in the ear canal, including the present case have been reported in the literature66-14. This is the third reported case of dialysis related amyloidosis of the ear canal6,10.

Amiloidose e insuficiência renal crônica terminal associada à hanseníase / Amyloidosis and end-stage renal disease associated with leprosy

O envolvimento renal na hanseníase é diverso, incluindo glomerulonefrites, amiloidose e nefrite túbulo-intersticial. Um homem de 58 anos foi admitido com edema de membros inferiores e dispnéia. Na admissão, havia retenção de escórias nitrogenadas, anemia, hipercalemia e acidose metabólica, com necessidade de hemodiálise. Referia história de hanseníase virchoviana. Foi realizada biopsia renal, compatível com amiloidose. O paciente evoluiu estável, sem recuperação da função renal, permanecendo em tratamento hemodialítico. A hanseníase deve ser investigada em todo paciente com perda de função renal, sobretudo naqueles que apresentam lesões cutâneas ou outras manifestações sugestivas de hanseníase.

Renal involvement in leprosy includes glomerulonephritis, amyloidosis and tubulointerstitial nephritis. A 58-year-old man was admitted with complaints of lower limb edema and dyspnea. At admission, nitrogen retention, anemia, hyperkalemia and metabolic acidosis were observed, requiring hemodialysis. The patient had a history of lepromatous leprosy. A renal biopsy was performed that was compatible with amyloidosis. The patient had a stable outcome, but without renal function recovery and remained on regular hemodialysis. Leprosy should be investigated in every patient with renal function loss, particularly in those with cutaneous lesions or other manifestations suggestive of leprosy.

Terapia com anti-TNF na amiloidose renal em artrite reumatoide refratária: uma nova perspectiva terapêutica / Anti-TNF therapy in renal amyloidosis in refractory rheumatoid arthritis: a new therapeutic perspective

As amiloidoses são um grupo heterogêneo de doenças caracterizadas pelo depósito extracelular de uma substância amiloide composta por agregados de proteínas mal acopladas que se depositam longe do sítio de síntese, causando disfunção do órgão-alvo e doença clínica. A forma sistêmica mais comum é a amiloidose A (AA) secundária às infecções e às inflamações crônicas, sendo a artrite reumatoide (AR) a causa mais frequente. O tratamento da amiloidose AA consiste no controle ou na resolução da doença de base. O objetivo do presente estudo é relatar um caso de amiloidose renal secundária em paciente com AR refratária de longa duração que apresentou melhora clínica sustentada após o uso de anti-TNFα (etanercepte).

Amyloidosis is a heterogeneous group of diseases characterized by extracellular deposits of a material composed of aggregates of amyloid - a poorly coupled protein - far from the site of synthesis, causing target organ dysfunction and clinical disease. Systemic amyloidosis A (AA), secondary to infections and chronic inflammation, especially rheumatoid arthritis (RA), is the most common form of amyloid deposition. Treatment of AA consists in the control or resolution of the baseline condition. The objective of the present study was to report a case of secondary renal amyloidosis in a patient with long-term refractory RA who presented sustained clinical improvement after the use of anti-TNFα (etanercept).

Amiloidosis: revisión a propósito de un caso clínico / Amyloidosis: review of clinical case purpose

La amiloidosis constituye un grupo de enfermedades caracterizadas por el depósito extracelular de material proteico autólogo, fibrilar e insoluble. Existe una variedad que se asocia a enfermedades inflamatorias crónicas mal controladas que presentan manifestaciones orientadoras al diagnóstico, lo que es importante de conocer, ya que hace variar el pronóstico de la enfermedad de base. A continuación se presenta un caso clínico de amiloidosis secundaria a artropatía psoriásica, discutiendo su diagnóstico y posibilidades terapéuticas tanto para la enfermedad de base como para su asociación y complicación por amiloidosis.

Amyloidosis is a group of diseases characterized by the extracellular deposition of protein material autologous fibrillar insoluble. There is a variety that is associated with poorly controlled chronic inflammatory diseases that have manifestations in the diagnosis. Below we present a clinical case of secondary amyloidosis in psoriatic arthropathy and discuss its diagnosis and further management.

Amyloid goiter: two cases and a review of the literature

Although involvement of the thyroid gland by amyloid is a relatively common phenomenon, clinically significant enlargement of the thyroid owing to amyloid deposition is an extremely rare occurrence. We describe two cases of amyloid goiter and review the relevant literature. The first case was systemic amyloidosis secondary to familial Mediterranean fever. The second case was a chronic renal failure patient who presented with an enlarged thyroid and upper airway obstructive symptoms. To date, true amyloid goiter secondary to amyloidosis associated with familial Mediterranean fever has only been reported in twelve patients

Mieloma múltiple y arteritis de células gigantes sin amiloidosis / Simultaneous multiple myeloma and giant cell arteritis without systemic amyloidosis

La amiloidosis sistémica primaria y el mieloma múltiple con amiloidosis primaria se han presentado con características clínicas e histopatológicas que simulan una arteritis de células gigantes. Hasta el momento la asociación se basaba en el rol antigénico del depósito de amiloide sobre las arterias, desencadenando la respuesta inmune que finaliza con una arteritis. Presentamos el primer caso en la literatura de un paciente con mieloma múltiple y arteritis de células gigantes sin amiloidosis sistémica, sugiriendo una relación patogénica entre estas dos entidades. En el caso de nuestro paciente se descartó la presencia de amiloide en la pared arterial, por lo que proponemos que el estímulo para el desarrollo de la arteritis podría ser una excesiva producción de interleuquina 6 fabricada por las células mielomatosas

Primary systemic amyloidosis with clinical and histopathologic features of giant cell arteritis has already been described. The association of multiple myeloma (with primary amyloidosis) and giant cell arteritis is also known. We present the first case in the literature of a patient with multiple myeloma and giant cell arteritis without systemic amyloidosis, suggesting a pathogenic relationship between the two diseases

Primary gastric lymphoma and Helicobacter pylori infection with gastric amyloidosis.

Primary gastric lymphoma, an uncommon gastric tumor caused by infection with Helicobacter pylori, is rarely associated with gastric amyloidosis. Chronic bacterial infection is known to cause amyloidosis. We report a 53-year-old man who had an antral and duodenal mass with narrowing and ulceration on endoscopy and CT scan; endoscopic biopsy revealed gastric amyloidosis. Rapid urease test and serology for H. pylori were positive. Histology of resected specimen of distal stomach revealed primary gastric lymphoma, amyloid deposits and spiral organisms suggestive of H. pylori. Rectal biopsy was negative for amyloid. He remained well on follow-up after surgery and eradication of H. pylori.

Stabilization of partially folded states in protein folding/misfolding transitions by hydrostatic pressure

In the last few years, hydrostatic pressure has been extensively used in the study of both protein folding and misfolding/aggregation. Compared to other chemical or physical denaturing agents, a unique feature of pressure is its ability to induce subtle changes in protein conformation, which allow the stabilization of partially folded intermediate states that are usually not significantly populated under more drastic conditions (e.g., in the presence of chemical denaturants or at high temperatures). Much of the recent research in the field of protein folding has focused on the characterization of folding intermediates since these species appear to be involved in a variety of disease-causing protein misfolding and aggregation events. The exact mechanisms of these biologicalphenomena, however, are still poorly understood. Here, we review recent examples of the use of hydrostatic pressure as a tool to obtain insight into the forces and energetics governing the productive folding or the misfolding and aggregation of proteins.

Association of Secondary Amyloidosis with Common Variable Immune Deficiency and Tuberculosis

This paper describes the first case of common variable immunodeficiency (CVID) and AA amyloidosis. A recently treated tuberculosis, and chronic inflammation induced by frequent respiratory tract infections, were thought to be responsible for the amyloidosis. No other reason for this condition could be detected. Although T cell dysfunction in some CVID patients has been reported, pulmonary tuberculosis is quite rare with this condition. Bacterial or viral agents or evidence in favour of intestinal tuberculosis, which would explain this patient's recurrent diarrhea, were not found. In this case, the response of the attacks of diarrhea to metranidazole and the histologic observation of extensive intestinal amyloid deposition, which is known to decrease intestinal motility, made us conclude that the diarrhea was associated with bacterial overgrowth. In this report, we discuss the association of CVID and tuberculosis to secondary amyloidosis and recurrent diarrhea.

Fiebre mediterránea familiar: revisión de literatura / Familial mediterranean fever: review of the literature

La Fiebre mediterránea familiar corresponde a una enfermedad inflamatoria, de herencia autosómica recesiva, caracterizada por episodios febriles y serotisis, descrita mayoritariamente en grupos étnicos originarios de la costa mediterránea. La amiloidosis secundaria es la principal causa de mortalidad. El estudio de la mutación genética causante de esta enfermedad es útil para el diagnóstico, de no estar disponible, una prueba terapéutica con Colchicina es una herramienta valiosa. El uso de ésta droga es el tramiento de elección.

unusual presentation of primary amyloidosis

A 65-year-old male patient presented with right upper-quadrant abdominal pain. Ultrasonography revealed hypoechoic lesion in the perihepatic and intraparenchymal area. Computed tomography CT showed hypodense lesion in the same localization. A fine needle biopsy specimen of the perihepatic lesion was hemorrhagic. On abdominal CT, the liver showed enhancement, but the spleen did not enhance. The spleen could not be detected by scintigraphic imaging using Tc99m sulfur dioxide. A diagnosis of primary amyloidosis was made by renal biopsy. Melphalan 10mg/day for 4 days/month was started. The clinical and radiological follow up demonstrated a resorption of the hematoma. The patient is still alive at the eighth month of therapy

Artritis reumatoídea y riñón: ¿existe la nefropatía reumatoídea?: caso clínico / Rheumatoid arthritis and kidney: does rheumatoid arthritis nephropathy exist?: a clinical case

Se presenta el caso de una mujer de 50 años de edad con artritis reumatoídea de larga data y con manifestaciones renales no completamente explicables por el tratamiento de base. Al revisar la literatura correspondiente, se detecta que en ella se describen los fármacos asociados a daño renal y sus probables mecanismos fisiopatológicos. En segundo término y brevemente se presenta la amiloidosis como causa fundamental de mortalidad de origen renal en la artritis reumatoídea. Finalmente se profundiza en las nefropatías relacionadas directamente con esta enfermedad reumatológica tan común