Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

POEMS syndrome is a multisystem disorder with signs such as peripheral neuropathy, organomegaly, endocrinopathy, monoclonal protein, skin lesions, papilledema, and increased cerebrospinal fluid proteins, which can also evolve with renal and cardiac affection. It is considered a result of a plasma cell cyscrasia with the production of a monoclonal protein. A 46-year old man was seen as an outpatient referring progressive weakness of legs and arms, fever, impotence, inguinal and cervical lymphadenopathies, peripheral edema, hepatomegaly and skin hyperpigmentation. In laboratory test, platelet count was between 528 x 10(9)/L and 599 x 10(9)/L, creatinine clearance 27.2 ml/min, proteinuria 0.8 g/dl, IgA 455 mg/dl, T3 30 ng/100 ml, T4 2.6 vg/dl, T4F 0.5 ng/dl, TSH 12.4 vU/ml; testosterone 1.56 ng/ml. The electromyography showed a mixed sensitive-motor pattern. On the pelvis radiography, an osteosclerotic lesion on the left sacroiliac joint was identified. Bone biopsy of the site of the sclerotic lesion revealed plasma cell dyscrasia. The patient was treated with diuretics, digitalis and prednisone. Diagnosis of this disorder is difficult because of the multipathology it is necessary to establish differential diagnosis.
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PMID:[POEMS syndrome. Report of a case]. 1042 26

Nonsecretory myeloma, which accounts for 1% to 5% of all myelomas, is characterized by the absence of detectable M-protein in serum and urine. The presenting features of nonsecretory myeloma are similar to those in patients with a detectable M-protein, except for the absence of renal function impairment. The response to therapy and survival of patients with nonsecretory myeloma are similar to those of patients with measurable M-protein. Immunoglobulin D myeloma represents 2% of all myelomas. Patients with IgD myeloma usually present with a small band or no evident M-spike on serum electrophoresis and heavy light-chain proteinuria. Thus, IgD myeloma can be considered a variant of Bence Jones myeloma; the presence of the IgD M-protein and the predominance of the lambda light chain are the only distinctive features. The median survival of patients with IgD myeloma is almost 2 years, with one fifth of them surviving for more than 5 years. Plasma cell leukemia is also a rare form of plasma cell dyscrasia (2% to 4% of all myelomas). The primary form accounts for 60% of the cases. In primary PCL, the constellation of adverse biologic prognostic factors in patients with advanced aggressive myeloma is already present at diagnosis. In fact, primary PCL has a more aggressive clinical presentation than MM, with a higher frequency of extramedullary involvement, anemia, thrombocytopenia, hypercalcemia, and renal failure. Treatment with a single alkylating agent plus prednisone is not appropriate. Combination chemotherapy with VAD, cyclophosphamide and etoposide, or VCMP/VBAP is a better initial option. Given the poor prognosis of primary PCL, intensification with high-dose therapy followed by stem cell rescue should be offered to affected patients.
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PMID:Nonsecretory myeloma, immunoglobulin D myeloma, and plasma cell leukemia. 1062 49

Records and pedigrees of Soft Coated Wheaten Terriers (SCWT) with protein-losing enteropathy (PLE) or protein-losing nephropathy (PLN) were studied retrospectively. Criteria for inclusion were defined based on analysis of blood (panhypoproteinemia for PLE, hypoalbuminemia for PLN) and urine (proteinuria for PLN) and histopathologic examination of tissue. Two hundred twenty-two affected dogs (female:male ratio = 1.6, P < .001) were clinically identified. Dogs were diagnosed with PLE earlier (P < .005; mean +/- SD age: 4.7+/-2.6 years, n = 76) than with PLN (6.3+/-2.0 years, n = 84) or with both diseases (5.9+/-2.2 years, n = 62). Clinical signs included vomiting, diarrhea, weight loss, pleural and peritoneal effusions, and less commonly thromboembolic disease. Dogs with PLE generally had panhypoproteinemia and hypocholesterolemia; intestinal lesions included inflammatory bowel disease, dilated lymphatics, and lipogranulomatous lymphangitis. Dogs with PLN generally had hypoalbuminemia, proteinuria, hypercholesterolemia, and azotemia; renal lesions typically showed chronic glomerulonephritis/glomerulosclerosis, and less commonly endstage renal disease. Dogs with combined PLE/PLN had intermediate mean values (P < .001) for serum total protein, albumin, globulin, and cholesterol but had a higher mean urine protein:creatinine ratio than did PLN dogs (P < .05); intestinal and renal lesions in these dogs were similar to those in the other groups. Two dogs had incidental mild renal dysplasia. Pedigree analysis from 188 dogs demonstrated a common male ancestor, although the mode of inheritance is unknown. Both PLE and PLN are common diseases in this small breed population. The prognosis is poor. Compared with previously reported intestinal and renal diseases in dogs, a new, distinctive familial predisposition for both PLE and PLN has been recognized in the SCWT breed.
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PMID:Familial protein-losing enteropathy and protein-losing nephropathy in Soft Coated Wheaten Terriers: 222 cases (1983-1997). 1066 20

Fifty-seven cases of Ig light chain-associated Fanconi syndrome (FS) have been reported so far, mostly as isolated reports. The pioneering work by Maldonado and associates (35), who reviewed the first 17 cases in 1975, led to the unifying concept that patients with FS and Bence Jones proteinuria have a special form of plasma cell dyscrasia characterized by slow progression of the tumor and by prominent crystal formation in proximal tubule cells, in the absence of myeloma casts in the distal tubule. We carefully reappraised these characteristics in a series of 11 patients. Ten renal biopsy specimens were available for electron microscopy, adding to the 15 previously reported cases with ultrastructural studies. Moreover, 10 of the kappa light chains could be entirely or partially sequenced and tested for their resistance to cathepsin B, a lysosomal protease present in proximal tubule cells. Our series showed an unexpected clinicopathologic heterogeneity. Seven patients presented with the typical clinical and pathologic features of FS and low-mass myeloma or monoclonal gammopathy of undetermined significance (MGUS), in keeping with Maldonado et al's description. Crystals in bone marrow cells were detected in patients of this group, only. Three patients who presented with full-blown FS exhibited, however, the characteristic features of myeloma cast nephropathy in the setting of high-mass myeloma. One patient of this group also had numerous crystals in proximal tubule cells. The eleventh patient had complete FS with MGUS, but no crystals in proximal tubule cells even after electron microscopy. Contrasting with the clinicopathologic heterogeneity, genetic and biochemical analyses of the light chains showed a striking homogeneity. First, they all were of the kappa type. Second, 8 of 9 belonged to the V kappa I variability subgroup, which indicates that FS light chains are related by the sequence of their variable regions. Third, the 8 V kappa I light chain sequences most likely originated from only 2 germline genes, LCO2/012 and LCO8/018. Fourth, all 5 LCO2/012-derived sequences presented an unusual hydrophobic or nonpolar residue at position 30. These sequence peculiarities may account for unusual physicochemical properties of the light chains including the resistance of their variable domain V kappa to proteolysis by cathepsin B, observed in 7 of 9 patients in our series, while light chains isolated from patients with myeloma cast nephropathy are completely digested. Resistance of V kappa to proteolysis in FS patients can explain the accumulation of the light chain in the endocytotic compartment of the proximal tubule cells, leading to impairment of proximal tubule functions.
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PMID:Adult Fanconi syndrome secondary to light chain gammopathy. Clinicopathologic heterogeneity and unusual features in 11 patients. 1084 34

We report about a 58-year-old female with coexisting type-I Gaucher's disease (GD) and multiple myeloma (MM). The diagnosis of GD was made in early childhood by means of bone marrow biopsy and was recently confirmed by analysis of the patient's genomic DNA for the underlying glucocerebrosidase mutations and the identification of the 1226G/1448C genotype. At the age of 24 years, the patient developed massive splenomegaly. Therefore, a splenectomy was performed. No further therapy was necessary for the next 34 years until 1999 when progressive anemia and thrombocytopenia occurred. Additional laboratory analysis revealed high serum protein and immunoglobulin (Ig) G levels and evidence of monoclonal gammopathy and lambda light-chain proteinuria, indicating plasma cell dyscrasia. This diagnosis was confirmed by the detection of osteolytic lesions in skeletal X-rays and a bone marrow biopsy showing an extensive infiltration with Gaucher cells and an increase of plasma cells, which expressed lambda light chains. When examined by means of electron microscopy, typical Gaucher cells, i.e., histiocytes containing tubular-structured cytoplasmatic material and spots of plasma cells with an increase of the endoplasmic reticulum, were found. GD associated with acquired MM has been described 13 times in the literature from 1968 to 1997. Only three of the patients were suffering from IgG myeloma. This distribution of the monoclonal component is in contrast to that of patients suffering from MM alone.
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PMID:Coincidence of Gaucher's disease due to a 1226G/1448C mutation and of an immunoglobulin G lambda multiple myeloma with Bence-Jones proteinuria. 1113 25

Considerable advances in the understanding of renal complications of dysglobulinemia have occurred in the last 10 years. They mostly result from sequence studies of nephritogenic immunoglobulin chains and comparison with sequence database, and from a careful analysis of clinicopathological features including electron microscopy characteristics of immunoglobulin deposits. These advances should help define subpopulations of patients with plasma cell dyscrasia at risk of developing renal complications and to design novel therapeutic approaches. Although renal complications of plasma cell dyscrasias may be considered as anecdotal diseases, understanding their pathophysiology may help dissect the mechanisms of glomerular and proteinuria-induced interstitial fibrosis.
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PMID:Plasma cell dyscrasia-related glomerulopathies and Fanconi's syndrome: a molecular approach. 1113 31

The summary draws attention to the nephropathy caused by "Chinese tea", with all its attendant risks that lead to organ damage. Available data from the literature describe more than 100 women who, at various times, underwent long-term slimming courses by taking two types of Chinese tea containing tablets, namely, Stefania tetranda and Magnolia officinalis. The nephropathy is characterized by severe anemia, tubular proteinuria, histologically chronic ischaemic, interstitial nephritis, accelerated decline in kidney function, and epithelial cell dysplasia of the urinary tract, with consequent inclination towards malignant transformation. The clinical and histological picture resembles that of the Balkan nephropathy. Apart from all these a proportion of the patients may develop aorta insufficiency. The author emphasises the hazards in one of the branches of alternative medicine, fitotherapy, and their prevention.
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PMID:[Nil nocere! Phytotherapy causing nephropathy]. 1114 89

To investigate the role of the angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism on prevalence and progression of disease in children with chronic renal failure (CRF), we determined the ACE I/D genotype in 95 children with CRF due to renal malformations (hypo-/dysplasia, obstructive uropathy, reflux nephropathy; n = 59), other congenital or hereditary diseases (n = 23), or acquired glomerular disorders (n = 13), who had been followed prospectively over a 2-year period. CRF progression rate was followed in each individual by linear regression analysis of estimates of glomerular filtration rate (GFR) obtained every 2 months. Actuarial renal 'survival' analysis was performed, using a GFR loss of 10 ml/min per 1.73 m2 as a cutoff point. The distribution of the ACE genotype did not differ among the disease groups. There was also no difference in ACE genotype distribution between the patients and a control group of healthy Caucasian children (n = 163). Among the children with renal malformations, the 2-year renal survival was significantly lower in those with the DD genotype (61%) than in patients with ID or II genotype (89%, P < 0.01). In the other disease groups, the ACE I/D genotype was not predictive of CRF progression. In a multivariate analysis of risk factors, the adverse effect of the DD genotype (risk ratio 10.2, P < 0.05) was independent of and additive to those of arterial hypertension (RR 13.2, P < 0.001) and gross proteinuria (RR 4.7, P < 0.05). We conclude that the ACE DD genotype is a significant risk factor for children with congenital renal malformations to develop progressive CRF. The effect of the ACE polymorphism in this patient group is independent of hypertension and proteinuria.
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PMID:Impact of ACE I/D gene polymorphism on congenital renal malformations. 1135 81

A 60-year-old Swiss woman presented with a 1-year history of periorbital hemorrhagic papules, a tendency to develop hematoma due to minor trauma and shortness of breath. The personal medical history included surgery for bilateral carpal tunnel syndrome (CTS) 2 years ago. Clinical and laboratory findings included macroglossia, Bence-Jones proteinuria, reticular lung infiltrates, thickening of the ventricular walls in echocardiography and increase in atypical plasma cells in the bone marrow. The coexistence of the specific symptoms of CTS, macroglossia and cutaneous lesions should immediately alert the physician to the probable existence of plasma-cell-dyscrasia-related systemic amyloidosis.
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PMID:Bilateral carpal tunnel syndrome as a clue for the diagnosis of systemic amyloidosis. 1145 59

An 18-year-old woman developed subacute transverse myelopathy with renovascular hypertension, hyperlipidemia, and proteinuria. Spinal magnetic resonance imaging(MRI) showed an intra-spinal cord lesion with severe spinal cord swelling at the C 2-Th 2 level. Increased plasma and cerebrospinal fluid interleukin-8(IL-8) levels and the presence of serum antineutrophil cytoplasmic antibody(ANCA) suggested the existence of an ischemic lesion due to vasculitis. Administration of corticosteroids ameliorated the clinical symptoms and MRI findings. Renovascular angiogram revealed the presence of fibromuscular dysplasia(FMD) at the left renal artery but no malformation was found at the cervical arteries. We discussed the possibility of relationships between myelopathy, FMD, IL-8, and ANCA.
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PMID:[Transverse myelopathy with renovascular hypertension caused by fibromuscular dysplasia]. 1159 81


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