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 1,351 records · Page 75Linked to original sources
PubMed2006

A case of biopsy-proven leptomeningeal amyloidosis and intravenous Ig-responsive polyneuropathy associated with the Ala25Thr transthyretin gene mutation.

A growing body of literature has described familial leptomeningeal amyloidosis, a rare phenotype resulting from deposition of transthyretin (TTR) amyloid within the leptomeninges. We report herein the case of a patient with leptomeningeal amyloidosis presenting with hearing loss, asymmetrical polyneuropathy and sensory ataxia. This is the first Japanese case displaying TTR mutation at codon 25, replacing alanine with threonine. Neurophysiological examinations suggested demyelinating polyradiculoneuropathy, which improved dramatically after high-dose intravenous immunoglobulin treatment. Demyelinating polyneuropathy in our patient may be attributable to massive leptomeningeal amyloidosis, and no systemic organ involvement was identified. These characteristic clinical manifestations may have resulted from the Ala25Thr TTR gene mutation.

Alanine↗
PubMed2006

Death during coronary angiography in a woman with cardiac amyloidosis.

Amyloidosis is a well-recognized systemic disease entity. Patients with cardiac amyloidosis have a poor prognosis; the median survival time after development of congestive heart failure is 4 months. We describe a 72-year-old woman with unsuspected cardiac amyloidosis who died during diagnostic coronary angiography. To our knowledge, this is the first report of this complication.

Aged↗
PubMed2006

The spectrum of localized amyloidosis: a case series of 20 patients and review of the literature.

Localized deposition of amyloid may occur in individual organs, in the absence of systemic involvement. The reason for localized deposition is unknown, but it is hypothesized that deposits result from local synthesis of amyloid protein, rather than the deposition of light chains produced elsewhere. We identified 20 cases of localized amyloidosis at our institution between 1993 and 2003. There were 11 males and nine females in the group. The mean age at the time of diagnosis was 65.5 years. Organs involved included skin, soft tissues, oropharynx, larynx, lung, bladder, colon, conjunctiva, and lymph node. In six of nine patients typed, the amyloid light chain was lambda. In those patients where follow-up was available (mean 7.6 years), none developed systemic disease. Localized amyloidosis occurs in a variety of organ systems. Evolution into systemic amyloidosis was not seen in our series of patients, supporting the hypothesis of local production of amyloid protein in these cases.

Aged↗
PubMed2006

Systemic AA-amyloidosis related to MPO-ANCA microscopic polyangiitis: a case report.

We report autopsy findings in an 83-year-old woman with myeloperoxidase-type anti-neutrophil cytoplasmic antibody (MPO-ANCA)-positive microscopic polyangiitis and systemic AA amyloidosis. With a diagnosis of MPO-ANCA-related microscopic polyangiitis, the patient was treated with corticosteroids, but she died of intractable enteritis. Autopsy showed inactive vasculitis affecting small arteries in kidney, lung, intestinal tract, and skeletal muscle. Gastrointestinal viscera were thickened, and AA-amyloid was demonstrated in arterioles and surrounding tissues. Amyloidosis also involved heart, kidney, gallbladder, pancreas, salivary gland, and subcutis. ANCA-positive microscopic polyangiitis appears to have been the likely cause of this patient's AA-amyloidosis.

Aged, 80 and over↗
PubMed2006

An unusual cause of renal amyloidosis secondary to gout: the first description of familial occurrence.

BACKGROUND: AA amyloidosis caused by the chronic inflammation accompanying gouty arthritis is extremely rare and familial occurrence has not been described so far. CASE REPORT: We present the case of two brothers (47 and 44 years old) with 7- and 10-year history of hyperuricaemia and chronic tophaceous gout with polyarticular involvement. The enzymatic assay performed in their erythrocytes proved the partial hypoxanthine-guanine phosphoribosyl transferase deficiency (Kelley-Seegmiller syndrome), the genetic defect of purine metabolism. Later on they developed proteinuria and chronic renal insufficiency /CRI/. Renal biopsy disclosed the combination of AA amyloidosis and gouty nephropathy in both the cases. Despite the standard treatment the older brother progressed to chronic renal failure. On the contrary, the younger one being longterm treated with oral colchicin have stabilized CRI. CONCLUSIONS: Only several cases of AA renal amyloidosis until recently, secondary to gout have been reported. Our case represents the first report of familial occurrence of this extremely rare disease.

Adult↗
PubMed1985

Impaired Kupffer cell function precedes development of secondary amyloidosis.

It has been demonstrated previously that the acute phase reactant, serum amyloid A (SAA), is subject to degradation by surface membrane-associated proteinases of peripheral blood monocytes. However, monocytes obtained from the blood of patients with amyloidosis degraded SAA incompletely, leaving a cleavage product that, biochemically and immunologically, resembled the amyloid protein A (AA) deposited in their tissues. To investigate the role of fixed macrophages in amyloidogenesis and to establish more definitively that amyloid deposition is attributable to faulty processing of the precursor protein rather than aberrant synthesis, secondary amyloidosis was induced in C57BL/6J mice by serial injections of casein. Kupffer cells (KC) were isolated from livers of mice that had received 0, 8, 13, 18, and greater than 30 injections of the stimulant. The cells were cultured with SAA for 4, 8, and 18 h and then subjected to electron microscopy and enzyme analyses. The medium was analyzed by SDS-PAGE to determine the amount of residual SAA and/or the appearance of AA. KC of healthy animals degraded SAA completely whereas KC of stimulated mice showed increasing amounts of residual SAA and the appearance of the AA cleavage product. The AA peptide appeared in KC cultures early during the course of casein injections and before any amyloid could be demonstrated in the organs of the stimulated mice. The addition of KC isolated from healthy mice to cultures that had produced AA eliminated the abnormal peptide. The results, indicate that defective KC function precedes amyloidosis. The abnormal AA cleavage product formed by such cells is still susceptible to hydrolysis by normal cells. In addition, ultrastructural evidence is presented that suggests that KC may also play a role in fibrillogenesis of the AA protein.

Amyloidosis↗
PubMed1993

Lambda III subgroup immunoglobulin light chains are precursor proteins of nodular pulmonary amyloidosis.

To investigate the selectivity of amyloid deposits in lungs, the authors determined the amino-terminal sequence of two amyloid proteins of two nodular pulmonary cases--a case of systemic amyloidosis without myeloma and a localized case--and produced a specific antibody to the amyloid protein of the systemic case to stain other amyloid lung specimens. Moreover, the authors extracted immunoglobulins (Igs) from the amyloidotic spleen of the systemic case to assess their affinity with the lung specimens. Both nodular pulmonary amyloid proteins had an amino-terminal structure similar to that of the lambda III subgroup Ig light chain and reacted with the same antibody. In other cases, nodular forms also stained positively with the same antibody, but interstitial forms were unstained. Extracted Igs containing amyloidogenic lambda III light chains reacted with pulmonary amyloid deposits on sections of both nodular cases. These results suggest that the lambda III subgroup Ig light chains are precursor proteins of nodular pulmonary amyloidosis and that their affinity for pulmonary tissue may be a main determinant of pulmonary localization in nodular amyloidosis.

Aged↗
PubMed1980

Immunofluorescence findings in human renal amyloidosis.

Positive direct immunofluorescence findings have been occasionally reported for human renal amyloidosis. However, no substantial information describing the frequency of immunomicroscopic pattern has been reported. Twenty-seven renal biopsy specimens with proven amyloidosis were studied by direct immunofluorescence using monospecific antisera against IgG, IgA, IgM, IgD, IgE, kappa and lambda light chains, C3, C4 properdin, alpha-2 macroglobulin, albumin, transferrin, and fibrinogen. Ten biopsy specimens were negative. The remaining specimens showed principally a diffuse immunofluorescent staining of the mesangial areas with various of the above fluorescein-labeled antisera except IgE, albumin, and transferrin antisera, which gave a consistently negative reaction. IgD, properdin, or fibrinogen were weakly identified in only one case. Immunoglobulins and C3 were observed in 14 cases. Kappa and/or lambda light chains were found in nine of ten biopsy specimens so tested. Positive immunofluorescent staining of other elements of the nephron was rarely observed. These results suggest that various immunoreactants, in addition to light chains, can be frequently detected in renal amyloidosis and that passive nonselective absorption of plasma proteins does not explain these immunomicroscopic findings.

Adult↗
PubMed1989

Amyloid goiter and arthritides after kidney transplantation in a patient with systemic amyloidosis and Muckle-Wells syndrome.

A case of hereditary AA amyloidosis with Muckle-Wells syndrome is described. After a successful kidney transplantation for chronic renal failure due to renal amyloid deposits at age 21, the patient, a white female now 26 years of age, developed a large amyloid goiter as a manifestation of the systemic amyloidosis and recurrent monarthritides. Both observations are novel for this disease. Subtotal thyroidectomy and oral colchicine administration, known to be effective in preventing complications of familial Mediterranean fever, another hereditary type of AA amyloidosis, proved highly effective in the management of this unusual case.

Adult↗
PubMed1991

The predictive value of bone marrow morphologic characteristics and immunostaining in primary (AL) amyloidosis.

The authors previously demonstrated that bone marrow plasmacytosis in primary (AL) amyloidosis may be monoclonal or polyclonal. However, the clinical implications of the degree of plasmacytosis and its clonality have not been studied. The authors evaluated 62 patients with AL amyloidosis, 40 of whom had monoclonal medullary plasma cells. There was complete concordance between the light chain class of the plasma cells in the monoclonal cases and that of the circulating paraprotein in the 22 cases associated with a paraprotein. The remaining 22 patients had polyclonal plasma cells, although a paraprotein was detected in 6. The degree of plasmacytosis was significantly higher among patients with monoclonal plasma cells and correlated inversely with length of survival. The authors' findings indicate that the quantitation of bone marrow plasma cells in AL amyloidosis by immunoperoxidase studies may predict the clinical course.

Adult↗
PubMed1992

Amyloidosis in association with human immunodeficiency virus infection.

Amyloidosis has not been previously reported in association with human immunodeficiency virus (HIV) infection. An HIV-infected patient with hemophilia who developed nephrotic syndrome due to amyloidosis is described. Amyloid disease has been observed in monkeys with AIDS, and patients with AIDS have had elevated levels of amyloid A protein, findings that suggest a pathogenetic linkage between the two disorders. Amyloidosis should be considered in the differential diagnosis of HIV-associated nephropathy and the nephrotic syndrome in HIV-infected patients.

Adult↗
PubMed1996

Accelerated senile amyloidosis induced by amyloidogenic Apoa-II gene shortens the life span of mice but does not accelerate the rate of senescence.

The SAMP1 strain is a mouse model for accelerated senescence and severe senile amyloidosis. We studied the effects of the amyloidogenic apolipoprotein A-II gene (Apoa2c) on senile amyloidosis and the life span and progress of senescence of congenic mice (R1.P1-Apoa2c) which have Apoa2c of the SAMPI strain on the genome of the normally aging SAMR1 strain. Age-associated and severe amyloid deposits were detected in R1.P1-Apoa2c, as well as a 20% shorter life span than that of SAMR1. The scores of senescence increased more rapidly with age in R1.P1-Apoa2c than that of SAMR1, and the Gompertz function showed a bigger Y intercept but the same slope of regression line. These results suggest that severe senile amyloidosis induced by the Apoa2c gene shortens the life span of mice but does not accelerate the rate of senescence.

Aging↗
PubMed2001

Azoospermia due to testicular amyloidosis in a patient with familial Mediterranean fever.

We describe a patient suffering from familial Mediterranean fever (FMF) who presented to our clinic with secondary infertility of 2 years due to amyloid A amyloidosis. His spermiogram disclosed azoospermia. A testicular biopsy revealed hyalinized tubules devoid of full spermatogenesis and containing abundant amyloid, confirmed by Congo red stain. We suggest that testicular amyloidosis be taken into consideration when dealing with azoospermic FMF patients. In view of the progressive nature of amyloid accumulation in the testis we propose to follow routinely the spermiogram of FMF patients with renal amyloidosis. Furthermore, consideration of sperm cryopreservation is suggested in these cases. In FMF patients with azoospermia consideration of testicular biopsy is recommended as early as possible in order to increase the chance of sperm retrieval.

Amyloid↗
PubMed2002

Neuromuscular pathology in hereditary gelsolin amyloidosis.

Hereditary gelsolin amyloidosis (AGel amyloidosis) is a systemic disorder reported worldwide in kindreds with a G654A or G654T gelsolin gene mutation. The clinically characteristic peripheral nerve involvement has been poorly characterized morphologically, and its pathogenesis remains unknown. We studied peripheral nerve and skeletal muscle biopsy or autopsy specimens of 35 patients with a G654A gelsolin gene mutation. Histological, immunohistochemical, and electron microscopic studies showed consistent deposition of gelsolin amyloid (AGel), particularly in the vascular walls and perineurial sheaths. Nerve roots were more severely affected than distal nerves. The amyloid deposits also displayed variable immunoreactivity for apolipoprotein E, amyloid P component, cystatin C, and alpha-smooth muscle actin. Sural nerve morphometry showed preferential age-related large myelinated nerve fiber loss and reduction of myelin sheath cross-sectional area. There was evidence of denervation atrophy and fiber type grouping in skeletal muscle. Our study shows that marked proximal nerve involvement with AGel angiopathy is an essential feature of AGel amyloidosis. The preferential large fiber loss, not generally seen in amyloid neuropathy, may be caused by ischemia due to AGel angiopathy. Deficient actin modulation by variant gelsolin in neurons and Schwann cells, however, may alter axonal transport and myelination and contribute to AGel polyneuropathy.

Adult↗
PubMed1988

Renal amyloidosis with nephrotic syndrome in a Spanish subcutaneous heroin abuser.

A 25-year-old drug addict who practices subcutaneous injection of heroin and crushed narcotic tablets, a practice known as 'skin popping', developed nephrotic syndrome secondary to renal amyloidosis. The patient had chronic inflammation of the skin in the form of abscesses and ulcerations. She had practiced subcutaneous drug administration for only 2 years. Amyloidosis had the staining characteristics and tissue distribution of the secondary type, and was directly related to chronic skin suppuration. To our knowledge, this represents the first reported case of renal amyloidosis in a subcutaneous drug abuser residing in Europe.

Adult↗
PubMed1996

The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds.

Hereditary amyloidosis of an unusual form has been reported in two separate kindreds; one was Polish-Canadian and the other was Irish-American (Am J Med 1975; 59:121 and Trans Assoc Am Physicians 1981; 94:211). In both kindreds, affected members developed hypertension and nephrotic syndrome due to amyloidosis in their forties or fifties, but the genetic background responsible for the condition has been left undetermined. To identify the genetic defect in these kindreds, a portion of exon 5 of the fibrinogen alpha-chain gene in members of these kindreds was examined for a mutation by single-strand conformation polymorphism analysis and direct DNA sequencing. DNA analyses revealed an A-->T transversion at the second base of codon 526 of the fibrinogen alpha-chain gene in both of these kindreds. Analysis of DNA polymorphisms in the fibrinogen alpha-chain gene locus (TCTT repeat in intron 3, Rsal site in exon 5, and Taql site in the 3' flanking region of the gene) showed the haplotype B5-Rsal(+)-Taql(-) for the Val 526 mutant gene in both kindreds studied here, as well as in two kindreds previously described (J Clin Invest 1994; 93:731). The fibrinogen alpha-chain gene mutation (Val 526) is the genetic defect responsible for hereditary renal amyloidosis in these two kindreds, and the mutant genes in the Val 526 kindreds may have been derived from a single founder.

Adult↗
PubMed1998

The clinical features of immunoglobulin light-chain (AL) amyloidosis with heart involvement.

We reviewed clinical presentation, investigations, therapy, prognosis and outcome of 232 patients with primary (AL) cardiac amyloidosis. There were 142 men and 90 women. Median age at presentation was 59 years (range 29-85). AL heart disease was unusual both in patients under the age of 40 (3.0%) and in non-Caucasians (6.5%). Fatigue and weakness were the commonest presenting symptoms. Hallmark features of periorbital ecchymoses and macroglossia were present in 12.5% and 27.2%, respectively. AL cardiac amyloidosis was unusual in isolation (3.9%), and most frequently patients had features of multiorgan dysfunction; heavy proteinuria and features of malabsorption predominating in this respect. Heart involvement represents the worst prognostic indicator, with a median survival from diagnosis of 1.08 years, falling to 0.75 years with the onset of heart failure. Current therapeutic procedures appear to prolong survival, with left ventricular wall thickness, mass and ejection fraction on echocardiography and late potentials on signal averaged electrocardiography of use in prognostic stratification. Cardiac involvement from AL amyloidosis is rapidly fatal. It should be suspected in all patients with heart failure who have wall thickening on echo, normal chamber sizes, low EKG voltages and evidence suggesting a multisystem disease.

Adult↗
PubMed2006

Renal amyloidosis in intravenous drug users.

BACKGROUND: Intravenous drug abuse is associated with a wide variety of acute and chronic medical complications. The increased longevity of drug users has seen the emergence of new diseases as a result of chronic bacterial and viral infection. We recently observed an increase in the number of cases of renal amyloidosis among intravenous drug users in central London. AIM: To describe here the demographic and clinical characteristics of such patients. METHODS: Patients were identified retrospectively from computerized patient renal biopsy records at University College London and Royal Free Hospitals from 1990-2005. Clinical information was collected from patient hospital records. RESULTS: We identified 20 cases of AA amyloidosis; 65% occurred between January 2000 and September 2005. All were proteinuric (mean 7.3 g/l, range 0.5-14.8 g/l) and 13 required dialysis within 1 month of diagnosis. Of the remaining seven, four developed end-stage renal failure after mean follow-up of 16 months (range 6-30). Nine died, with median survival of 19 months (range 1-62); all deaths were due to sepsis. DISCUSSION: Secondary AA amyloidosis is a serious complication of chronic soft tissue infection in intravenous drug users in central London. Affected individuals invariably presented with nephrotic range proteinuria and advanced renal failure. Treatment options are limited and the outcome for such patients on renal replacement was poor. Cross-disciplinary strategies are needed to prevent this serious complication of long-term intravenous drug abuse.

Acute Kidney Injury↗