Gene/Protein Disease Symptom Drug Enzyme Compound
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 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amyloidosis is the term for specific pathological peptide deposits in various tissues. Amyloid substances may be the manifestation of the following nosological units: AL-amyloidosis, AA-amyloidosis, ATTR-amyloidosis, beta2-microglobulin amyloidosis and possibly othr familiar forms of amyloidosis. The most frequent symptoms of amyloidosis are: 1. proteinuria with nephrotic syndrome, 2. cardiac failure with restrictive cardiomyopathy, 3. unexplicable hepatomegaly, 4. idiopathic peripheral polyneuropathy, 5. haemorrhagic manifestations and symptoms of increased fragility of the capillaries while the number of thrombocytes is normal, 6. periorbital haematomas and 7. macroglossia. Diagnostic and therapeutic procedures differ according to the type of amyloidosis and are analyzed in detail in the text.
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PMID:[Clinical manifestations of AL-amyloidosis and some other types of amyloidosis]. 1563 67

Amyloidosis is a pathology caused by tissue deposition of amyloid, a compound composed of insoluble fibrillar proteins. AL-amyloidosis (primary amyloidosis) most frequently leads to cardiac disorders 50% of which are cases of chronic heart failure (CCF). The study was dictated by the rarity of this pathology among other causes of CCF, its severity, and poor prognosis in the absence of specific therapy. Cardiohemodynamics (CHD) and clinical course of CCF were examined in 12 patients with cardiac amyloidosis (CA) and clinical manifestations of CCF. All the patients died during the study period. The diagnosis was verified at autopsy in 5 patients, by gingival, rectal or pleural biopsy in 4, and from combination of clinical and instrumental findings in the remaining three. The longevity since the onset of CCF was 28 +/- 8.8 and 5.9 +/- 3.8 months in patients under and above 70 respectively. 83.3% of the patients with CA had suffered renal disorders (proteinuria, nephrotic syndrome, insufficiency) and loss of weight before they developed CCF. CCF concurrent with CA was characterized by severely disturbed systemic hemodynamics and refractivity to standard therapy. Cardiac disorders were dominated by changes in myocardium due to the substantial thickening of its walls. The weight of left ventricular myocardium was 358. 77 +/- 58.08g (by echoCG) and the total heart weight 552 +/- 98.4g (at autopsy). Patients with CCF and CA had CHD changes suggesting restrictive cardiomyopathy in 83.3% of the cases and dilatational cardiomyopathy in 16.7%.
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PMID:[Chronic heart failure in patients with cardiac amyloidosis]. 1946 51

Renal involvement in Churg-Strauss syndrome (CSS) is not uncommon, but nephrotic syndrome is rarely reported in patients with CSS. A 25-year-old woman with a long history of bronchial asthma presented to our hospital with a chief complaint of generalized edema. Laboratory studies revealed normocytic normochromic anemia, marked eosinophilia, positive anti-neutrophil cytoplasmic antibody, hypoalbuminemia, and hypercholesterolemia. Urinalysis showed heavy proteinuria (4+) without significant casts. The 24-hour urinary protein excretion was 6.5 g with a selective index of 0.35. Echocardiography and X-ray of the paranasal sinuses suggested restrictive cardiomyopathy and maxillary sinusitis, respectively. Diagnoses of CSS and nephrotic syndrome were made on the basis of clinical and laboratory findings. Renal biopsy was performed, and pathologic findings revealed focal segmental glomerulosclerosis with mesangiolysis. The patient's clinical symptoms and proteinuria improved markedly after combined treatment with corticosteroids and cyclophosphamide. Herein, we report a case of nephrotic syndrome in a patient with CSS.
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PMID:A case of nephrotic syndrome in a patient with Churg-Strauss syndrome. 1969 37

Immunoglobulin light chain amyloidosis is a protein deposition disorder where the precursor protein represents a monoclonal immunoglobulin light or heavy chain. Deposition in viscera results in restrictive cardiomyopathy, nephrotic range proteinuria, demyelinating peripheral neuropathy, hepatomegaly and malabsorption syndrome. Diagnosis requires biopsy with Congo red staining. Invasive biopsies are not required generally. It is essential that after a histologic diagnosis is obtained, the tissue is validated to have an immunoglobulin light chain composition so patients are spared unnecessary chemotherapy. The disease prognosis and patient monitoring are linked to serialized measurement of cardiac biomarkers and immunoglobulin-free light chains. Most patients require cytotoxic chemotherapy. For some patients, this therapy involves stem cell collection and myeloablative chemotherapy; for others, chemotherapy includes an alkylator and a corticosteroid; and for some, it involves addition of a novel agent in the form of an immunomodulatory drug or a proteasome inhibitor. Delays in diagnosis continue to be an obstacle to initiating effective therapy. Early mortality rates remain high. Effective chemotherapy can result in reversal of organ dysfunction and recovery. Reductions in light chain production translate to improved survival.
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PMID:How to manage primary amyloidosis. 2186 40

Background. Systemic amyloidosis is a potentially fatal condition, unless diagnosed and treated before development of irreversible organ damage. Demonstration of amyloid deposits within tissue biopsies is only definitive diagnostic method, which makes appropriate selection of biopsy site essential. Herein, we evaluated efficacy of minimally invasive minor salivary gland biopsy (MSGB) for the diagnosis of amyloidosis. Methods. We analyzed 37 biopsies taken from 35 patients. Suggestive findings for amyloidosis were significant proteinuria, renal impairment, refractory diarrhea, neuropathy, and restrictive cardiomyopathy. Minor salivary gland was the initial biopsy site in all subjects. When MSGB was negative but there was a high suspicion for amyloidosis, a kidney, duodenum, or rectal biopsy was performed for further investigation. Results. Mean age of patients was 45.4 and 21 were female. In 11 patients amyloidosis was diagnosed with MSGB. In overall 18 patients were diagnosed with amyloidosis. Sixteen of them were identified as being of AA type and two were AL type amyloidosis. The sensitivity of minimally invasive MSGB is 61.1% for diagnosing amyloidosis in this study. Conclusion. MSGB is a safe and simple method for the diagnosis of amyloidosis which can be performed in an outpatient setting. We suggest extensive use of this minimally invasive method.
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PMID:Minimally invasive minor salivary gland biopsy for the diagnosis of amyloidosis in a rheumatology clinic. 2470 7

A 53-year-old woman was admitted with epigastric discomfort and weakness. Laboratory examination at admission showed mild anemia and proteinuria. Esophagogastroduodenoscopy revealed marked mucosal atrophy, diffuse nodularity and granular appearance with mucosal friability. Biopsy was performed on the antrum and body of the stomach. On the next day, the patient began to complain of severe dyspnea, and hypoxia was present on pulse oximetry. Therefore, emergency echocardiography was conducted and it showed restrictive cardiomyopathy along with thrombus in the left atrium. With time, heart failure was aggravated despite intensive management. The result of gastric biopsy revealed amyloid deposits which stained positively with Congo red. On immunohistochemistry study, kappa and lambda chain were present. In addition, kappa chain was significantly elevated in urine and serum on electrophoresis. Although the patient was finally diagnosed as having primary gastric amyloidosis with restrictive cardiomyopathy, her general condition rapidly deteriorated and died at 12th hospital day. When obscure gastric lesion is encountered, performing gastric biopsy is strongly recommended since it be primary gastric amyloidosis. Herein, we present an unusual case of primary gastric amyloidosis.
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PMID:[A Case of Primary Gastric Amyloidosis with Fulminant Heart Failure]. 2649 9