11/582. Double light-chain disease: a case report. A patient with massive proteinuria was discovered to have double light-chain disease. Immunological studies demonstrated monoclonal light chains of both the lambda and kappa type in urine. The light chains were separate and distinct and were not found to be a part of any of the whole molecule immunoglobulins such as IgG, IgM, IgA, IgD, or IgE. Uniqueness of the proteins was confirmed by column chromatography. Clinical studies showed that the patient had multiple myeloma. ( info) |
12/582. frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female. The description of frasier syndrome until now has been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significant risk of gonadoblastoma. Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause frasier syndrome and are distinct from WT1 exon mutations associated with denys-drash syndrome. The WT1 gene, which is essential for normal kidney and gonadal development, encodes a zinc finger transcription factor. The intron 9 alternative splice donor site mutation seen in frasier syndrome leads to loss of three amino acids ( KTS isoform), thus disrupting the normal ratio of the KTS/-KTS isoforms critical for proper gonadal and renal development. This study examines two sisters with identical intron 9 mutations. The proband carries a classic diagnosis of frasier syndrome with 46,XY gonadal dysgenesis, whereas her sister has progressive glomerulopathy but a 46,XX karyotype and normal female development. This indicates that the proper WT1 isoform ratio is critical for renal and testicular development, but apparently does not affect either ovarian development or function. It is proposed that the clinical definition of frasier syndrome should be broadened to include 46,XX females with normal genital development and focal segmental glomerulosclerosis associated with a WT1 intron 9 donor splice site mutation. Nephrologists need to consider the possibility of this heritable syndrome in evaluation of females with focal segmental glomerulosclerosis and to consider their risk for gonadal malignancy, as well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring. ( info) |
13/582. Effectiveness of radiation therapy in nephrotic syndrome associated with advanced lung cancer. Paraneoplastic nephrotic syndrome is rare, bur occurs mostly in lung cancer. The glomerular lesion usually exhibits membranous nephropathy. Although surgical therapy has been shown to be effective, the treatment of a paraneoplastic nephrotic syndrome has always been a challenge. Currently no standard therapy has been established, if the paraneoplastic nephrotic syndrome is associated with advanced cancer with unresectable lesions. We present 2 cases having paraneoplastic nephrotic syndrome associated with advanced squamous cell carcinoma of the lung. radiation therapy of the primary tumor effectively caused regression of the paraneoplastic nephrotic syndrome without affecting the renal function. Our results suggest that irradiation can be the first choice in the treatment of nephrotic syndrome, if the primary tumor is unresectable. ( info) |
14/582. Antihypertensive therapy in renal patients - benefits and difficulties. High blood pressure values, diastolic and systolic, are associated with decreased renal function. This is particularly true when the diastolic blood pressure is higher than 90 mm Hg. Several studies showed that lowering of the blood pressure within the range of normotension according to the WHO causes a reduction in the rate of progression to terminal renal failure. These studies have led to recommendations to aim at a target blood pressure of approximately 125/75 mm Hg in the treatment of patients with glomerular diseases and particularly diabetic nephropathy with proteinuria >1 g/day. In contrast to these results, blood pressure values corresponding to the recommendation (patients only. It has also been shown that at any given level of an average 24-hour blood pressure, patients with an insufficient decrease of the blood pressure during nighttime have a higher risk to progress to terminal renal failure. Thus it is very important to lower the nighttime blood pressure and to detect nighttime blood pressure increases using ambulatory blood pressure measurements. ( info) |
15/582. immunoglobulin a nephropathy complicating pulmonary tuberculosis. A 31-year-old man who presented with smear- and culture-negative pulmonary tuberculosis had associated macroscopic hematuria, elevation of serum creatinine and immunoglobulin a (IgA) levels, overt proteinuria, and peripheral edema. Renal biopsy revealed focal mesangial proliferation with IgA deposits, and a diagnosis of IgA nephropathy was made. The patient received treatment with isoniazide and rifampin. After 4 months, pulmonary lesions were almost completely healed, and a significant improvement of creatinine clearance with normalization of serum creatinine and IgA levels and disappearance of proteinuria were observed. Treatment with isoniazide and rifampin was discontinued after 6 months, without reappearance of either pulmonary or renal symptoms. Two years after the diagnosis of IgA nephropathy, the patient is in good general condition. serum creatinine and IgA levels are normal, proteinuria is absent, and there is neither macrohematuria nor microhematuria. These findings suggest that IgA nephropathy may be a consequence of tuberculosis, possibly due to an abnormal IgA-mediated immune response against mycobacterium tuberculosis with formation of nephrotoxic immune complexes. ( info) |
16/582. Acute renal infarction. Clinical characteristics of 17 patients. We analyzed the medical records of patients with an established diagnosis of acute renal infarction to identify predictive parameters of this rare disease. Seventeen patients (8 male) who were admitted to our emergency department between May 1994 and January 1998 were diagnosed by contrast-enhanced computed tomography (CT) as having acute renal infarction (0.007% of all patients). We screened the records of the 17 patients for a history with increased risk for thromboembolism, clinical symptoms, and urine and blood laboratory results known to be associated with acute renal infarction. A history with increased risk for thromboembolism with 1 or more risk factors was found in 14 of 17 patients (82%); risk factors were atrial fibrillation (n = 11), previous embolism (n = 6), mitral stenosis (n = 6), hypertension (n = 9), and ischemic cardiac disease (n = 7). All patients reported persisting pain predominantly from the flank (n = 11), abdomen (n = 4), and lower back (n = 2). On admission, elevated serum lactate dehydrogenase was found in 16 (94%) patients, and hematuria was found in 12 (71%) of 17 patients. After 24 hours all patients showed an elevated serum lactate dehydrogenase, and 14 (82%) had a positive test for hematuria. Our findings suggest that in all patients presenting with the triad--high risk of a thromboembolic event, persisting flank/abdominal/lower back pain, elevated serum levels of lactate dehydrogenase and/or hematuria within 24 hours after pain onset--contrast-enhanced CT should be performed as soon as possible to rule out or to prove acute renal infarction. ( info) |
17/582. Longterm treatment of psoriasis using fumaric acid preparations can be associated with severe proximal tubular damage. Fumaric acid preparations are used as longterm and effective treatment of psoriasis. Apart from gastrointestinal, dermatological and hematological side-effects, transient renal damage was observed during treatment with fumaric acid. The case of a 38 year old woman who was treated with fumaric acid (420 mg bid) for 5 years before she complained of fatigue and weakness. According to clinical laboratory she had developed severe proximal tubular damage. hypophosphatemia, glycosuria and proteinuria persisted although medication was stopped immediately. ( info) |
18/582. Pleural mesothelioma and membranous nephropathy. Underlying malignancy has been thought to be responsible for 5-10% of the cases of membranous nephropathy in adults, with the risk being highest in patients over the age of 60 years. Solid tumors such as carcinomas of lung or colon, are most often involved. It is presumed that tumor antigens are deposited in the glomeruli; this is followed by antibody deposition and complement activation, leading to epithelial cell and basement membrane injury and proteinuria due to the associated increase in glomerular permeability. We describe a patient with a resistant nephrotic syndrome and massive proteinuria due to membranous nephropathy associated with pleural mesothelioma. ( info) |
| A rare case of botryoid wilms tumor is presented. The main clinical manifestations were persistent low-grade fever, malaise, and proteinuria associated with microhematuria. ultrasonography revealed an echogenic mass in the right kidney, and a contrast-enhanced mass was found in the dilated collecting system by contrast-enhanced computed tomography. The surgically resected tumor was a polypoid, light-yellow, glistening mass that occupied a large part of the renal pelvis and originated from the pelvicaliceal wall. Part of the tumor extended to the proximal ureter, resulting in hydronephrosis in the involved kidney. No parenchymal lesion was observed. Microscopic examination revealed epithelial, stromal, and blastemal components, which indicated wilms tumor. infection had occurred in the hydronephrotic kidney, which presumably had caused the major presenting symptoms. The prognosis of our patient and previously reported cases of botryoid wilms tumor was good compared with that of typical wilms tumor, since the botryoid type can be detected at an early stage. ( info) |
| Thin basement membrane disease (TBMD) is a condition originally defined as diffuse thinning of the glomerular basement membrane (GBM) associated with hematuria in all patients. Although proteinuria has been described in up to 60% of patients with TBMD, it is almost always mild, with a 24-hour excretion mostly of less than 500 mg. We describe eight patients (four men and four women between 32 and 66 years of age) with TBMD who presented with heavy proteinuria or nephrotic syndrome. Among the seven cases with family history, hematuria was noted in five. All patients had a long history of microscopic hematuria, with episodic gross hematuria in two. Renal biopsies showed diffuse thinning of the GBM in each patient (mean between 185.3 x 29.8 nm and 232.6 x 34.5 nm versus control between 325 x 35 nm and 350 x 15 nm). Three cases showed thinning of GBM only (group I); the remaining five cases showed thinning of GBM associated with focal segmental glomerulosclerosis. All three patients of group I presented with nephrotic syndrome and normal renal function. Treatment with steroids resulted in remission of nephrotic syndrome in two, whereas nephrotic syndrome persisted in the untreated patient. Among the five patients in group II, nephrotic syndrome and normal renal function at presentation were noted in two, whereas the other three had heavy proteinuria (2.2, 2. 5, and 2.6 g/d, respectively) associated with mildly decreased renal function (serum creatinine 1.8, 1.3, and 1.5 mg/dL, respectively). At last follow-up, although the renal function was stable in all five, only the three who received steroid treatment had remission or marked improvement of proteinuria. hematuria, however, persisted in all eight patients of both groups. Whether specific gene mutations are translated into structural changes responsible for both excessive GBM thinning and increased transcapillary permeability remains to be elucidated. Alternatively, the heavy proteinuria/nephrotic syndrome may not be related to TBMD, but rather is the manifestation of associated glomerular diseases. Follow-up, including a response to steroids, supports the latter hypothesis. ( info) |