Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “AMYLOIDOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,459 records · Page 81Linked to original sources
PubMed2005

Primary local orbital amyloidosis: biochemical identification of the immunoglobulin light chain kappaIII subtype in a small formalin fixed, paraffin wax embedded tissue sample.

BACKGROUND: Amyloidosis refers to a heterogeneous group of disorders associated with the deposition of chemically distinct amyloid fibril proteins. Precise determination of chemical amyloid type has diagnostic, therapeutic, and prognostic relevance. Although immunohistochemical techniques are used routinely to determine the amyloid type, the results can be negative or inconclusive, so that biochemical characterisation is often required. The development and application of new biochemical microtechniques suitable for examination of extremely small tissue samples is essential for precise identification of the deposited amyloid proteins. AIMS: To investigate biochemically the amyloid proteins present in a formalin fixed paraffin wax embedded orbital tissue from a patient with localised orbital amyloidosis in whom immunohistochemistry was not helpful in the determination of amyloid type. METHODS: Extraction of amyloid proteins from fixed tissue and their identification was carried out by a recently developed microtechnique. An extremely small tissue sample was dewaxed and extracted with formic acid. The extracted material was analysed using electrophoresis, western blotting, and amino acid sequencing. RESULTS: Biochemical examination of the extracted proteins showed the presence of immunoglobulin (Ig) derived amyloid proteins, which were composed of the N-terminal fragments of the Ig light chain kappaIII subtype (AL-kappaIII) (16, 8, and 3 kDa). CONCLUSIONS: This is the first chemically proved AL case reported in association with primary localised orbital amyloidosis. The biochemical microtechnique used was useful in achieving a precise diagnosis of amyloid disease, in a case where the results of routine immunohistochemical examination of amyloid were inconclusive.

Adult↗
PubMed1968

Primary "acquired" hypogammaglobulinaemia and amyloidosis.

The clinical details and post-mortem findings are given of a patient who had primary ;acquired' hypogammaglobulinaemia and was found at necropsy to have amyloidosis. The relationship of gamma globulin deficiency to amyloidosis is discussed, and the possible relevance of the hypogammaglobulinaemia to the formation and nature of amyloid is noted. It is suggested that a disordered immune response may be an essential prerequisite for the development of amyloidosis.

Agammaglobulinemia↗
PubMed1980

Senile amyloidosis: a protean manifestation of the aging process.

Senile amyloidosis represents a group of diseases which, while sharing features common to other forms of amyloidosis, are unique and differ from one another in their morphology, biochemical behaviour, protein components, and organ distribution. Although the exact prevalence of various forms of this group of amyloidosis is not yet known, it appears that some forms are extremely common in elderly patients and in many patients may have no clinical significance.

Aged↗
PubMed2001

Light chain amyloidosis of the urinary bladder. A site restricted deposition of an externally produced immunoglobulin.

AIMS: To identify the amyloid protein in a patient with amyloidosis localised to the urinary bladder, and to see whether subtyping of the protein by sequence analysis increases the understanding of the selection of the urinary bladder as the site of amyloid deposition. METHODS: A patient with gross haematuria and a congophilic mass in his urinary bladder was evaluated further. Characterisation of the amyloid protein was performed using conventional histological and immunohistochemical methods. Determination of the N-terminal amino acid sequence of the amyloid protein was performed using protein sequencers. RESULTS: The patient's history, physical examination, and laboratory evaluation excluded the involvement of other organs, justifying a diagnosis of amyloidosis localised to the urinary bladder. Histological and immunological studies showed that the amyloid protein deposited in the urinary bladder of the patient was probably of the amyloid light chain type. No plasma cells or lymphocytes were seen in sections of the urinary bladder and lower ureter adjacent to the amyloid deposits. Molecular analysis showed the sequence NFMLTQPHSISGSPG, which assigned the amyloid protein to either the Vlambda(I) or the Vlambda(VI) immunoglobulin (Ig) light chain families. CONCLUSIONS: The findings suggest that the amyloid protein in this patient originated outside the urinary bladder. The heterogeneity of the Ig proteins in known cases of amyloidosis of the lower urinary tract suggests that the amino acid residues, which determine the Vlambda subtyping, have no major role in restricting the deposited protein to the urinary bladder.

Amino Acid Sequence↗
PubMed2003

Low grade marginal zone B cell lymphoma of the breast associated with localised amyloidosis and corpora amylacea in a woman with long standing primary Sjögren's syndrome.

Primary low grade marginal zone B cell lymphoma (MZL) of the breast and localised mammary amyloidosis are exceedingly rare entities. This report describes the case of a woman with long standing Sjögren's syndrome presenting with asymptomatic MZL of the breast showing plasmacytic differentiation, associated with local ductular amyloidosis. The lesion was discovered incidentally in breast tissue resected for microcalcifications. Immunohistochemistry revealed kappa light chain restriction, supporting the neoplastic nature of the infiltrate. A retrospective molecular study of the salivary gland biopsy showed a B cell clone. This is the first report of the association of human mammary ductular amyloidosis with cartwheel shaped material identical to corpora amylacea, usually seen in brain, lung, and prostate, but unknown in the human breast. The excellent outcome without treatment seen in this patient further emphasises the need to distinguish between MZL with plasmacytic differentiation and extramedullary plasmacytoma.

Adult↗
PubMed1983

Multifocal fibrosclerosis and renal amyloidosis.

A 34-year-old female with a 14-year history of multifocal fibrosclerosis developed the nephrotic syndrome due to renal amyloidosis. Although the association between chronic inflammatory processes and amyloidosis is well known, this is the first report of amyloidosis occurring in a patient with multifocal fibrosclerosis. Other interesting features of this case are the involvement of subcutaneous adipose tissue in the inflammatory-fibrotic process and the presence of features of multifocal fibrosclerosis in the patient's twin sister.

Adult↗
PubMed1984

Renal amyloidosis and non-specific aorto-arteritis--a hitherto undescribed association.

Two patients presented with the nephrotic syndrome complicating non-specific aorto-arteritis (Takayasu's arteritis). Histologically both had renal amyloidosis. On investigation there was no evidence of chronic infection or any immuno-inflammatory disease known to be associated with amyloidosis. These cases raise the possibility of a significant association between aorto-arteritis of the Takayasu type and systemic amyloidosis.

Adult↗
PubMed1993

Takayasu's disease presenting as a nephrotic syndrome due to amyloidosis.

We report an 18 year old black woman who presented with nephrotic syndrome in whom the investigations led to the diagnosis of diffuse Takayasu's disease, renal amyloidosis of AA type and interstitial lung disease. Proteinuria in Takayasu's disease is usually ascribed to hypertension or more rarely to glomerulonephritis. This case suggests that amyloidosis should be considered also in the investigation of proteinuria in these patients in view of the serious prognostic implications. This case represents further evidence that Takayasu's disease can be the cause of systemic reactive amyloidosis which may also be the presenting feature.

Adolescent↗
PubMed2000

Recurrent laryngeal nerve palsy associated with mediastinal amyloidosis.

Amyloidosis affecting peripheral nerves causing isolated nerve palsies is uncommon. Localised amyloidosis occurs less frequently than the reactive or immune related systemic forms, and mediastinal localisation is virtually unknown. We present a case of recurrent laryngeal nerve palsy associated with mediastinal AL amyloidosis in a middle aged man.

Amyloidosis↗
PubMed2006

Amyloidosis.

Amyloidosis is a clinical disorder caused by extracellular deposition of insoluble abnormal fibrils, derived from aggregation of misfolded, normally soluble, protein. About 23 different unrelated proteins are known to form amyloid fibrils in vivo, which share a pathognomonic structure although they are associated with clinically distinct conditions. Systemic amyloidosis, with amyloid deposits in the viscera, blood vessel walls, and connective tissue, is usually fatal and is the cause of about one per thousand deaths in developed countries. This rarity and the variable involvement of different organs and tissues are often responsible for missed or delayed diagnosis, and amyloidosis remains a considerable clinical challenge. However, recent elucidation of important aspects of pathogenesis, as well as developments in diagnosis, monitoring, and treatment, have greatly improved outcomes, especially when patients are managed in specialist centers.

Amyloid↗
PubMed1998

A case of multicentric Castleman's disease associated with renal amyloidosis and pure red cell aplasia.

This is the first reported case of multicentric Castleman's disease (MCD) associated with renal amyloidosis and pure red cell aplasia (PRCA). Inguinal lymph node biopsy showed follicular hyperplasia with prominent germinal centers and plasma cell proliferation in the interfollicular areas. Renal biopsy specimens revealed intraglomerular amyloid deposits, defined as AA amyloidosis. Since amyloid deposits were not present in the gastric and rectal mucosal tissues, his renal disorder was found to be an unusual secondary amyloidosis associated with MCD. Following treatment by plasma exchange, there was progressive deterioration of anemia due to PRCA detected by bone marrow aspiration. Subsequently he was successfully treated with steroid pulse therapy not only for anemia but also for renal function.

Amyloidosis↗
PubMed2002

Remission of nephrotic syndrome due to AA amyloidosis and initiation of glomerular repair after surgical resection of localized Castleman's disease.

To shed further light on the eventual destiny of amyloid kidney deposits after interruption of amylogenic stimulus, we report a case of a 47-year-old woman with nephrotic syndrome due to renal amyloidosis, complicating abdominal Castleman's disease. After 5 courses of therapy with melphalan and prednisolone which failed to improve the nephrotic syndrome or her general clinical condition, and 1 year after the diagnosis of renal amyloidosis, surgical excision of the abdominal mass was performed. Whereas her clinical symptoms and other laboratory findings rapidly improved, the proteinuria took 18 months to disappear. A second renal biopsy, performed 30 months after surgical resection, showed persistence of the amyloid deposits in the same extent. However, electron microscopy revealed subtle reparative phenomena at the epithelial site of the basement membrane. We conclude that proteinuria associated with amyloidosis does not only depend on structural damage and that the new synthesized segment of basement membrane observed by us probably represents a mechanism of repair and the start of a long healing process.

Amyloidosis↗
PubMed2002

Renal amyloidosis secondary to tuberculosis of cecum.

Renal amyloidosis can occur as a primary or secondary, systemic or localized disorder. It is defined as a chronic infiltrative disorder characterized by impaired organ function caused by extracellular insoluble protein fibrils. Although colonic tuberculosis is not uncommon, the occurrence of reactive renal amyloidosis in such patients is not as prevalent. We report a single case of renal amyloidosis in a patient with tuberculosis of the cecum who presented with nephrotic syndrome.

Adult↗
PubMed2004

Localized primary amyloidosis of the genitourinary tract: does conservatism help?

Primary amyloidosis of the genitourinary tract is a rare clinical entity with an excellent prognosis in most cases. It is of interest to the urologist as it mimics malignancy. The definitive diagnosis is made on histologic examination and by excluding secondary causes of amyloidosis. We present 4 patients with primary localized amyloidosis of the genitourinary tract who were treated with transurethral resections alone with satisfactory outcome.

Adult↗
PubMed2007

Immunoglobulin light and heavy chain amyloidosis AL/AH: renal pathology and differential diagnosis.

Among the varied and biochemically diverse group of protein folding disorders that are collectively known as the amyloidoses, AL-amyloidosis where deposits are derived from the immunoglobulin light chain fragments, is the most prevalent systemic form of the disease found in the western world. In contrast, AH-amyloidosis, resulting from the deposition of immunoglobulin heavy chains, is a rare disease with very few cases thus far reported. Both diseases primarily affect older individuals and are always associated with some form of plasma cell/B cell lymphoproliferative process. The overwhelming majority of monoclonal light chains are nephrotoxic leading to frequent renal involvement, although a wide variety of other organ systems may be involved. The most common clinical presentation is proteinuria and the disease is often diagnosed by renal biopsy. The kidneys are the most frequent site of amyloid fibril deposition in AL and light microscopic examination of Congo red stained sections is the prime means of detection. Electron microscopy may be helpful in the detection of small deposits and in the differentiation of amyloid from other types of renal fibrillar deposits. Current treatment of systemic amyloidoses depends upon the type of amyloid deposits; thus, accurate typing, using a panel of antibodies, is of paramount importance. While the differential diagnosis of amyloidoses continues to expand with increased awareness of hereditary types, currently, the main challenge is diagnosis of AL/AH with confidence. Future goals include the development of more precise and sensitive diagnostic tools. This chapter presents the pathology of AL/AH, current standards of diagnosis and the differential diagnosis. Whenever possible, the most recent references, considered as being particularly useful to clinicians and pathologists serving patients with renal amyloidosis, have been selected.

Amyloid↗
PubMed2006

Does renal function influence plasma levels of advanced glycation and oxidation protein products in patients with chronic rheumatic diseases complicated by secondary amyloidosis?

BACKGROUND: The aim of the study was to assess the contribution of carbonyl and oxidative stresses to the development of amyloidosis in patients suffering from chronic rheumatic diseases, and the potential influence of renal function to their concentrations was considered. METHODS: We investigated 17 patients with chronic rheumatological diseases and histologically proven diagnosis of AA amyloidosis (group AA-RA), 26 patients suffering from rheumatoid arthritis without any signs of AA amyloidosis (group nonAA-RA) and 20 healthy volunteers (Co). In all patients, advanced glycation end products (AGEs), advanced oxidation protein products (AOPP), pregnancy-associated plasma protein A (PAPP-A) and other selected proinflammatory markers were measured. RESULTS: An increase in serum levels of AOPP and AGEs was found in the AA-RA group in comparison with nonAA-RA patients and also with Co (p < 0.001 for all comparisons). AGEs positively correlated with serum creatinine (r = 0.67, p = 0.004) and negatively with glomerular filtration rate (r = -0.54, p = 0.027). We did not find a correlation between AOPP and any other assessed parameters including proteins and renal parameters. PAPP-A levels were not significantly increased in any group of patients (AA-RA, nonAA-RA) in comparison with Co. CONCLUSIONS: Increased plasma levels of AGEs and AOPP in the group of patients with AA-RA may have been partly explained by the diminished renal clearance. However, the increase in AOPP levels was higher than what is expected in this degree of renal failure (glomerular filtration rate in the AA-RA group corresponding to chronic kidney disease stage III).

Aged↗
PubMed1988

Unsuitable value of abdominal fat tissue aspirate examination for the diagnosis of amyloidosis in long-term hemodialysis patients.

Abdominal fat tissue aspiration was used in 22 long-term hemodialysis patients (5-17 years). Fourteen of these patients had carpal tunnel syndrome and amyloid deposits of beta 2-microglobulin in the synovium. One patient had a spontaneous rupture of the spleen with amyloid deposits in spleen vessels. Seven other patients presented carpal tunnel syndrome and/or articular pains, and radiological lytic lesions in bone, strongly suggesting an amyloid origin. As a control group, in 22 patients with biopsy-proven amyloidosis, abdominal fat tissue aspirates were performed and were studied under the same conditions: by light microscopy these tissues were stained with Congo red and examined with a polarizing microscope; these specimens were also studied by electron microscopy. In all hemodialyzed patients, no amyloid deposit was present in fat tissue with Congo red staining and by electron microscopy. On the contrary, amyloid was observed in 17 of 22 cases in other types of amyloidosis. It seems that this method which has been proved to be simple and sensitive for the diagnosis of systemic amyloidosis is not a good marker for the presence of amyloid in long-term hemodialysis patients.

Abdominal Muscles↗
PubMed1991

Diagnostic approaches to AB-amyloidosis.

AB-amyloidosis, characterized by the presence of beta 2-microglobulin in the amyloid fibrils, has become an important complication of long-term renal replacement therapy. Due to the mainly musculoskeletal manifestation of the disease, standard approaches to obtain the diagnosis of amyloidosis, such as rectal biopsy or fat aspiration, often yield negative results. Currently, definitive diagnosis relies on biopsies, usually of synovial membranes or bone cystic radiolucencies. The serum level of beta 2-microglobulin, though markedly elevated, does not distinguish between patients with and without amyloid deposition. Measurements of altered, circulating beta 2-microglobulin species have not yet been evaluated in this regard. Recently, two radiopharmaceuticals, namely radiolabelled serum amyloid P component and radiolabelled beta 2-microglobulin, have been shown to be able to detect amyloid deposits in vivo in a noninvasive manner. At least in the case of labelled beta 2-microglobulin it enables the specific detection of clinically and radiologically unrecognizable AB-amyloid deposits. These tests therefore may have the potential to alleviate the need for biopsy confirmation in the diagnostic workup of a suspected AB-amyloidosis.

Amyloidosis↗