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PubMed1992

[A case of primary amyloidosis associated with giant cell infiltration within a Bowman's capsule].

A 67-year-old man was hospitalized with a diagnosis of nephrotic syndrome. Physical findings at admission were generalized edema and macroglossia. Urinalysis showed massive proteinuria, + +occult blood, and granular and broad casts. Ig A lambda monoclonal gammopathy was noted in the serum. There was no evidence of myeloma in the bone marrow aspirate, scintigram or X-ray of the bone. A biopsy specimen of the kidney showed massive deposits of structureless material in the glomeruli. Marked cell infiltration was also observed in the interstitium. Multinucleated giant cells were occasionally seen in the Bowman's capsules and the interstitium. There were reactive changes in the Bowman's capsule adjacent to the giant cell. The deposits were proved to be amyloid by positive staining with Congo red and apple-green birefringence by polarized light. In addition, microfibrills seen on electron microscopy displayed deposits. Amyloid depositions were observed in other tissues such as gingiva, skin and tongue. Staining of amyloid with Congo red was resistant to potassium permanganate, and amyloid was positively stained with lambda-light chain of immunoglobulin. These findings indicated that the patient had primary amyloidosis. Infiltration of the multinucleated giant cell has been reported only in patients with familial amyloidosis and secondary amyloidosis associated with rheumatoid arthritis. To our knowledge the present case is a first report of the giant cell infiltration in a Bowman's capsule in primary amyloidosis.

Aged↗
PubMedDate not supplied

Immunofluorescence study of childhood renal amyloidosis.

In this paper, the findings of immunofluorescence (IF) studies of 57 patients with childhood biopsy-proven renal amyloidosis are presented. All specimens were investigated by the direct IF technique and the simultaneous use of antisera to human IgG, IgM, IgA, fibrinogen and C3. Antisera to C1q, C4, HbsAg, IgE (in each of ten cases), kappa and lambda light chains of immunoglobulins (Igs) and albumin (in each of five cases) were also used. AA type amyloidosis was determined in all patients by Wright's potassium permanganate reaction. In thirty-four of these patients (60%), Familial Mediterranean Fever (FMF) was found to be the underlying disease for renal amyloidosis. In 39 cases (68.5%), renal biopsy showed positive fluorescence staining while in 18 cases (31.5%), fluorescence staining was negative. The immunofluorescence pattern of glomerular deposits was neither granular nor linear but large isolated or confluent masses which were located in the mesangium and in the capillary walls, and were similar in all cases whatever the antisera used. The areas showing immunofluorescence staining almost corresponded to the locations of amyloid deposits. Immunoreactants showed various combinations of deposition with the exception of IgE, HbsAg and albumin antisera which yielded continuously negative reactions. C3 was the immunoreactant most commonly encountered. Kappa and lambda light chains of lgs were demonstrated in one of five biopsy specimens tested. Although it was not diagnostic, this IF pattern was found to be rather characteristic. Demonstration of immunoglobulins and other components of the humoral immune system is not a rare occurrence in renal amyloidosis, and passive absorption of plasma proteins does not simply explain these immunohistologic findings.

Adolescent↗
PubMed2004

Influence of Serum Amyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population.

OBJECTIVE: To evaluate the effect of serum amyloid A (SAA) 1 and SAA2 gene polymorphisms on SAA levels and renal amyloidosis in Turkish patients with familial Mediterranean fever (FMF). METHODS: SAA1 and SAA2 gene polymorphisms and SAA levels were determined in 74 patients with FMF (39 female, 35 male; median age 11.5 yrs, range 1.0-23.0). All patients were on colchicine therapy. SAA1 and SAA2 gene polymorphisms were analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). SAA and C-reactive protein (CRP) values were measured and SAA/CRP values were calculated. RESULTS: The median SAA level was 75 ng/ml (range 10.2-1500). SAA1 gene polymorphisms were: a/a genotype in 23 patients (31.1%), a/beta genotype in 30 patients (40.5%), a/g genotype in one patient (1.4 %), beta/beta genotype in 14 patients (18.9%), beta/g genotype in 5 patients (6.8 %), and g/g genotype in one patient (1.4%). Of the 23 patients who had a/a genotype for the SAA1 polymorphism, 7 patients had developed renal amyloidosis (30.4%) compared to only one patient without this genotype (1/51; 2.0%); p < 0.001. SAA2 had no effect on renal amyloidosis. SAA1 and SAA2 genotypes had no significant effect on SAA levels. SAA/CRP values were significantly lower in patients with the SAA1a/a genotype, compared to other SAA1 genotypes: 0.16 (0.025-1.96) versus 0.23 (0.012-28.20), p < 0.05. CONCLUSION: SAA1a/a genotype is one genetic factor that confers a significant risk for amyloidosis in the Turkish FMF population. Neither the SAA1 nor SAA2 genotypes had a significant effect on SAA level.

Adolescent↗
PubMed2004

[Isolated primary amyloidosis of the bladder].

Amyloidosis is a group of storage diseases concerning various proteins, classified as a function of the type of protein. Amyloidosis of the bladder is a rare disease (about one hundred cases have been reported over the last thirty years), but the bladder appears to be the most frequent site in the urinary tract. Amyloidosis may be either primary or secondary, isolated or involving multiple organs. Complementary investigations must be performed to eliminate systemic involvement before proposing the diagnosis of isolated amyloid and analysis of the type of amyloid can help target these investigations. In most cases, the patient presents with painless macroscopic haematuria. The diagnosis is always based on histological examination of cystoscopy samples. In the light of a new case of isolated amyloidosis of the bladder diagnosed in their department in a context of assessment of microscopic haematuria and after a review of the literature, the authors discuss the diagnostic features, the examinations designed to exclude systemic disease and the various treatments.

Amyloidosis↗
PubMedDate not supplied

Heart transplantation for restrictive cardiomyopathy: development of cardiac amyloidosis in preexisting monoclonal gammopathy.

A 54-year-old woman died 6 months after heart transplantation for treatment of restrictive cardiomyopathy. A monoclonal gammopathy without other signs of malignant disease was present preoperatively, and up to 6 weeks before transplantation no evidence of amyloidosis was established in the rectal, bone marrow, and cardiac specimens. At autopsy there was amyloidosis type AL in the kidneys, bone marrow, liver, spleen, recipient atrium, and donor heart. Retrospectively, the explanted heart also revealed amyloidosis. We conclude that in patients undergoing heart transplantation for treatment of restrictive cardiomyopathy with a preexisting monoclonal gammopathy, a thorough evaluation, including multiorgan biopsy for amyloidosis with electron microscopic workup, should be performed.

Amyloidosis↗
PubMed2004

Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosis.

An adolescent boy had had recurrent episodes of fever, abdominal pain, and arthralgias since the age of 7 years. Progressive renal failure due to renal amyloidosis developed, leading to renal transplant at the age of 14.5 years. Five years later, he developed AA amyloidosis in the transplant as well as the thyroid gland. His father had had similar symptoms including systemic amyloidosis since the age of 6 years. DNA sequence analysis revealed a heterozygous mutation in the TNFRSF1A (TNFa-receptor 1) gene (T50M) in both father and son causing tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Previous phenotype/genotype analyses have proposed that this mutation is usually not associated with the occurrence of amyloidosis. This difference in the clinical course in different families may indicate a strong influence of modifier genes. Treatment with a TNFRSF1B fusion protein TNF antagonist (etanercept) favorably influenced the disease course.

Adult↗
PubMed2004

[Primary amyloidosis associated to severe factor X deficiency].

Amyloidosis is a systemic disease characterized by generalized deposition of beta-organized proteic fibrillar material with green birefringence under polarized light, in different tissues and organs, the most frequent kidney, liver and heart, with important clinical repercussion. Primary or AL amyloidosis is the most common subtype of amyloidosis (1), confirmed by biopsy-proved amyloid deposition in abdominal fat pad, rectum, kidney or liver, if necessary, in which fragments of monoclonal light chains are deposited. Cases with factor X (Stuart factor) of coagulation deficiency associated are described, due to adsorption of this factor to amyloid fibrills. Normally, evolution is fatal, with only few months of survival. We report a case of primary amyloidosis with nephrotic syndrome, severe factor X deficiency (without bleeding complications), possible heart affection and short-term good response to chemotherapic treatment.

Amyloidosis↗
PubMed2005

Clinical and morphological diagnosis of cardiac AL amyloidosis: a review of findings and difficulties as illustrated in one case.

BACKGROUND: Primary amyloid light-chain (AL) amyloidosis results from plasma cell dyscrasia. Fibrillar deposits of monoclonal immunoglobulin light chains are present in various organs, especially in the heart. The patients suffer from fatal cardiac dysfunction. CASE REPORT: We report the case of a 54-year-old man with symptoms of cardiac arrhythmia which was refractory to conventional treatment and ablations. At a later stage of his disease, the diagnosis of AL amyloidosis associated with monoclonal gammapathy of uncertain significance was established. Echocardiography, electrocardiography, serum immunofixation studies, abdominal fat aspirate biopsy, and bone marrow biopsy indirectly confirmed the diagnosis of cardiac amyloidosis. The patient died. CONCLUSIONS: The diagnosis of AL cardiac amyloidosis is difficult, the prognosis always serious, the available therapy limited, and the mortality high.

Amyloidosis↗
PubMed2006

[Localized amyloidosis of the ureter: a case report].

A 46-year-old female was referred to our hospital with a complaint of left flank pain. Ultrasongraphy and computed tomography demonstrated a left hydronephroureter due to stenosis with a ureteral mass in the left lower ureter. Retrograde pyelography revealed severe stricture of left lower ureter and brushing cytology showed papanicolaou class III. Ureteral tumor was suspected and left nephroureterectomy with partial cystectomy was performed. Histopathological diagnosis was amyloidosis of the left ureter. There was no evidence of secondary or systemic amyloidosis. Finally, we diagnosed her with localized amyloidosis of the left ureter. Localized amyloidosis of the ureter is a relatively rare condition, and this is the 55th case reported in the Japanese literature.

Amyloidosis↗
PubMed2006

Detection of systemic amyloidosis in the pig-tailed macaque (Macaca nemestrina).

Secondary amyloidosis is a progressive systemic disease for which there is no reliable diagnostic assay, preventive measure, or treatment. In an attempt to elucidate an antemortem diagnosis, 30 female pig-tailed macaques (Macaca nemestrina) at the Washington National Primate Research Center were surveyed for amyloidosis. Amyloid was demonstrated histologically in 47% (14 of 30) of the animals. The distribution and severity of amyloid deposition was variable. Affected animals had a mean age (+/-1 standard deviation) of 13.2 +/- 4.9 y, which was significantly greater than the mean age of unaffected animals (9.3 +/- 4.1) y. Twelve tests were evaluated for detection of amyloidosis; the diagnostic value of each was determined through comparison of histologically positive and histologically negative animals. Diagnostic tests evaluated were endoscopic examination and biopsy of the stomach and colon, abdominal ultrasonography, hepatic radiology, serum amyloid A (SAA), endothelin 1, alpha-fetal protein, aspartate aminotransferase (AST), alanine aminotransferase, gamma-glutamyltransferase (GGT), alkaline phosphatase, cholesterol, blood urea nitrogen, total bilirubin, C-reactive proteins, and erythrocyte sedimentation rate. Amyloidotic animals demonstrated a distinctive serologic profile: elevated SAA, GGT, and AST in combination with decreased total protein and albumin. Radiology demonstrated hepatomegaly in animals with hepatic amyloid deposition. In the absence of known infection or trauma, an amyloidotic serologic profile and radiologic hepatomegaly are consistent with systemic amyloidosis in M. nemestrina.

Age Factors↗
PubMed2006

[Renal amyloidosis complicating Crohn's disease: report of two cases and review of literature].

Secondary amyloidosis is caused by the extracellular store of the fragment AA of the circulatory protein in serum amyloid-A. It can complicate diseases such as family mediterranean fever, rheumatoid arthritis or Crohn's disease. Renal amyloidosis is a rare but serious complication of Crohn's disease. We report two cases of Crohn's disease associated with a nephrotic syndrome due to renal amyloidosis. It is important to recognize this complication, especially since Colchicine has been proposed as a possible treatment. So, the search for proteinuria seems to be important for an early diagnosis of renal amyloidosis in Crohn's disease.

Adult↗
PubMed2006

[A case of primary amyloidosis].

Diagnostics of primary (AL) amyloidosis is difficult enough; treatment of this disease in not less difficult or more adequate. Because of similarity of the pathogenesis of AL-amyloidosis and that of multiple myeloma, similar therapeutic regimens, directed towards depression of plasma cell dyscrasia, are used in both cases: administration of melphalan in various doses together with prednisolone, administration of vincristine, adriablastine and dexamethasone, as well as high-dose chemotherapy with melphalan and autologic stem cell transplantation. This therapeutic approach makes it possible to reach clinico-laboratory remission and prolong the life of patients with AL-amyloidosis. The article contains a case description of a patient with AL-amyloidosis, who underwent a successful high-dose melphalan therapy with subsequent autologic stem cell transplantation.

Amyloidosis↗
PubMed1990

Immunogold quantitation of immunoglobulin light chains in renal amyloidosis and kappa light chain nephropathy.

By quantitative immunoelectron microscopy using protein A-gold, the authors compared the content and distribution of immunoglobulin light chain (LC) antigens in glomeruli from 11 cases of renal amyloidosis with that in two cases of kappa LC glomerulopathy and two cases of diabetic glomerulosclerosis. In a supplementary study and using a similar immunogold technique, the authors identified amyloid A in deparaffinized renal tissue from three of the 11 cases of renal amyloidosis. Each patient had similar clinical manifestations (chronic renal failure with proteinuria) and similar glomerular morphology (thickened glomerular basement membranes and nodular expansion of the mesangium). In 12 cases (10 amyloid, 2 kappa LC), immunoelectron microscopy localized LC antigens over the glomerular deposits and allowed indirect tissue quantitation of each LC antigen to the various cellular and interstitial compartments. In 6 of the 11 cases of renal amyloidosis, the amyloid labeled only for lambda, and in one, only for kappa. In one patient with Waldenström's macroglobulinemia, who had a biclonal gammopathy, both LC were identified in the amyloid. In two cases, both of whom had a history of chronic suppurative lung disease, both LC antigens as well as amyloid A were localized to the amyloid fibrils. In only one case, in which glomerular amyloid labeled for amyloid A, the amyloid did not label for either LC. Whereas lambda LC-derived fibrils often appeared as spicules in the glomerular subepithelial space, other amyloid deposits usually accumulated in the subendothelial zone and did not form spicules. The epimembranous location of spicules suggested that the amyloid precursor protein transformed into amyloid fibrils after filtration into the urinary space. Presence of epimembranous spicules may explain the more severe proteinuric renal failure and the more rapid progression to glomerulosclerosis described in primary amyloidosis.

Amyloidosis↗
PubMed2006

Cranial neuropathy and bone involvement in primary systemic amyloidosis.

Bone involvement in primary systemic amyloidosis is rare. Intracranial involvement in primary amyloidosis has not been reported so far. We report two cases of bone involvement in primary amyloidosis. The first patient also had combined deficiencies of factor IX and XII, while the second patient had associated intracranial involvement and XIIth cranial nerve palsy. Both these cases are unique in that, destructive bone lesions with intracranial involvement and combined factor deficiencies have not been reported in primary amyloidosis previously.

Adult↗
PubMed1991

[Membranous nephropathy associated with kidney amyloidosis].

15 kidney biopsies from 13 patients with a combination of membranous nephropathy and amyloidosis were studied. Membranous nephropathy is shown to precede the development of amyloidosis which possesses all the properties of the acquired one (AA-amyloid). Transformation of membranous nephropathy into amyloidosis is due to the deficiency of the immune system characteristic of both processes. This combination is not considered as a special type of amyloidosis but as a peculiar feature of membranous nephropathy.

Amyloidosis↗
PubMed1991

[Selective involvement of the gastrointestinal tract in amyloidosis in a female patient with periodic disease and intact kidneys].

The authors describe a rare case of amyloidosis in a female patient suffering from periodic disease (PD) for 18 years without any clinico-laboratory signs of renal impairment but with marked clinical, (malabsorption, cachexia), endoscopic, x-ray and other manifestations of gastrointestinal amyloidosis. This case is of interest since patients suffering from amyloidosis due to PB develop malabsorption very rarely, namely in 2-3% of cases. As a rule, it develops in patients with pronounced chronic renal failure on hemodialysis or with a history of kidney transplantation. In this particular case, the patient demonstrated selective marked damage to the gastrointestinal tract, with the kidneys remaining practically intact. A possibility of the indicated variety of amyloidosis should be considered in specification of the genesis of persistent diarrhea in PB patients.

Adolescent↗
PubMed1976

[Changes in leukocyte enzyme activity during experimental amyloidogenesis and in patients with amyloidosis].

The activity of hydrolytic and redox myeloperoxidase enzymes was determined in the neutrophils and lymphocytes of the peripheral blood of patients with secondary amyloidosis and also of the animals with amyloidogenesis and amyloidosis (caseine model). During the amyloidogenesis the activity of hyocrolytic enzymes and of myeloperoxidase in the neutrophils was found to decrease; this was particularly marked at the stage of the initial amyloid deposition. Changes in the enzyme activity in the animals against the background of already developed amyloidosis coincided with such in the blood cells of patients with secondary amyloidosis. The results obtained are discussed from the aspects of resorption theory.

Acid Phosphatase↗
PubMed1976

[Gastrointestinal amyloidosis].

A series of 29 cases of amyloidosis of the alimentary tract is reported. Five cases (17%) were primary amyloidosis; 14 cases (48%) were amyloidosis secondary to other diseases (such as chronic inflammatory and neoplastic diseases); 10 cases (35%) were amyloidosis of the heredo-familial type connected with Familial Mediterranean Fever. In 23 patients (79%) the diagnosis was established by biopsies, and in 6 more cases on autopsy. Gastrointestinal involvement was found in all age groups. Gastro-enterologic complications observed in the present series include: diarrhea, malabsorption, ileus and gastrointestinal bleeding. In addition other conditions such as jaundice (3 cases), esophagitis and acute hemorrhagic pancreatitis were observed. In 22 patients proteinuria was observed and in 13 patients the nephrotic syndrome. Among 17 patients, in 11 the clinical picture before death was that of terminal renal failure. The survival after diagnosis among 14 patients reached 4 years in 9 cases, and 19 years in one case. The diagnostic value of the rectal biopsy is emphasized.

Adolescent↗