Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease.

We describe a man and a woman with Fabry's disease. Renal biopsies showed late and early stages respectively of focal and segmental glomerulosclerosis (FSGS) and vascular changes. Clinically the hemizygous patient had advanced renal disease with nephrotic range proteinuria and serum creatinine 122 micromol/l. The female carrier had minimal albuminuria, borderline GFR with a normal serum creatinine, acroparesthesias, moderate fatigue, tinnitus and headache accompanied by ischemic cerebral lesions. Enzyme replacement therapy (ERT) was initiated according to our Fabry protocol, partly due to the renal morphologic findings. We conclude that FSGS and vascular changes may be an early morphologic finding in Fabry's disease, even in patients with subtle albuminuria. The potential role of FSGS as a marker of progressive renal disease in some Fabry patients is discussed. As FSGS and vascular changes obviously may exist across a wide range of clinical presentations and have potential prognostic implications, we suggest that a renal biopsy should be performed prior to enzyme replacement therapy in all adult Fabry patients with proteinuria of various levels. Efforts should be made to develop a scoring system to evaluate potential histologic markers. Protocol biopsies may have therapeutic implications and may provide valuable information in the evaluation of start and dosing of ERT.

Acute renal failure following IVF: case report.

IVF is one of the most comprehensively registered interventions in clinical medicine. IVF is regarded as safe with very few complications. We report a woman who developed acute renal failure due to compression of both ureters from enlarged stimulated ovaries. The condition was diagnosed using ultrasound and magnetic resonance imaging (MRI). The condition was treated with insertion of double-J stents in both ureters and resolved without need of dialysis. Compression of the ureters due to enlarged ovaries should be considered if a patient develops acute renal failure following IVF.

Plasma vasopressin, catecholamines and atrial natriuretic factor during hemodialysis and sequential ultrafiltration.

In 13 patients with chronic renal failure on maintenance hemodialysis, plasma vasopressin, atrial natriuretic factor, catecholamines and renin activity were measured during ordinary hemodialysis with fluid removal, and during isolated isoosmotic ultrafiltration and a subsequent isovolemic hemodialysis. Concomitant with a significant fall in serum osmolality, plasma vasopressin decreased significantly from 6.3 +/- 0.8 to 3.8 +/- 0.4 pg/ml (p < 0.05). Predialytic plasma vasopressin was significantly correlated to serum osmolality (r = 0.62, p = 0.001). No such relationship was observed after dialysis. During isolated ultrafiltration (1.25 +/- 0.13 L) through 1 hour, no change in either osmolality or vasopressin was observed, whereas atrial natriuretic factor decreased (700 +/- 136 to 564 +/- 115 pg/ml, p < 0.05). Atrial natriuretic factor was excessively high at all times, and may explain the low plasma renin activity observed in these patients even after fluid removal. No consistent changes were observed in the catecholamines during hemodialysis or ultrafiltration alone, despite marked changes in blood pressure and heart rate. Thus, even in patients with chronic renal failure osmotic regulation of vasopressin seems intact, and volume reduction through ultrafiltration causes a decrease in atrial natriuretic factor.

Alterations in serum and urine parameters reflecting bone turnover in uremic patients during treatment with 1,25-dihydroxyvitamin D3 and 24,25-dihydroxyvitamin D3.

Previously we demonstrated that bone resorption in uremic patients appears to be related to increased serum parathyroid hormone (PTH) and to osseous PTH-stimulated adenylate cyclase (AC), the latter being inversely correlated to serum 24,25-dihydroxyvitamin D3 [24,25(OH)2D3]. In this study, we continue to examine the possible modulatory role of vitamin D3 analogs on the progression of the uremic condition. Four groups of predialytic uremic patients received oral administrations of CaCO3 (control), 1,25-dihydroxy-vitamin D3 [1,25(OH)2D3] (0.25-0.50 microgram/day), 24,25(OH)2D3 (15 micrograms/day) or a combination of the two vitamin D3 analogs for 6 months. In the treatment groups receiving single or combined therapy, respectively, the low pretrial serum levels of 1,25(OH)2D3 were raised (p < 0.05) within upper normal range, while the serum levels of 24,25(OH)2D3 were increased (p < 0.05) to twice the average physiological level. Neither regimens alone resulted in significant changes in serum levels of calcium of PTH. 1,25(OH)2D3 moderately hampered bone formation by reducing serum alkaline phosphatase (ALP) by some 15%. 24,25(OH)2D3 significantly decreased (p < 0.01) bone PTH-AC up to 98% after 2 and 6 months. However, no correlation was found between serum 24,25(OH)2D3 and the bone turnover parameters serum ALP, serum osteocalcin and urine hydroxyproline/creatinine ratio. These parameters were all positively correlated (p < 0.05) to serum PTH, indicating an on-going bone turnover. These biochemical events strongly indicate that 24,25(OH)2D3 may retard the PTH-dependent progression in bone demineralization occurring in uremic patients. This effect is apparently not reduced by concomitant 1,25(OH)2D3 administration.

General convulsions and rhabdomyolysis. Case reports.

Two patients who developed rhabdomyolysis secondary to generalized seizures are presented. Minor traumas of skeletal muscles due to seizures may be associated with myoglobinuria and the development of acute renal failure. The diagnosis rhabdomyolysis may easily be confirmed by following serum creatine kinase. Myoglobinuria is present if the urine turns dark brown with a heavily positive dipstick for urinary hemoglobin while microscopy of urinary sediment contains but a few red blood cells. Darkly pigmented granular urinary casts may also be present. In order to prevent development of acute renal failure, it is important to keep the diuresis high and alkaline. If renal failure develops it is usually reversible, but may necessitate peritoneal dialysis or hemodialysis for a couple of weeks.

Benzodiazepine-receptor antagonist, a clinical double blind study.

In a double blind study including 18 patients in whom a benzodiazepine intoxication was suspected, the first specific benzodiazepine antagonist was compared to placebo. There was a highly significant effect on consciousness, all patients given antagonist awaked, usually within minutes. No adverse effects were observed. In 2 patients the clinical condition deteriorated 1 to 2 hrs after the antagonist was given. This might endanger intoxicated patients withdrawing from medical attention.

Cancer and polluted work places: a case-control study.

The possible association between selected cancers and polluted work places has been studied in a hospital-based, case-control study. By dividing all jobs in the participants working career into "polluted" and "clean", a crude measure for the total industrial exposure a worker experiences throughout his life was established. Among 103 age-matched, case-control pairs the overall estimated relative risk (RR) for exposed subjects (greater than or equal to 10 years in a polluted work place) of developing cancer compared to nonexposed (less than 10 years in a polluted work place) was 1.1. The only subgroup where a significant difference was found between the cases and the controls was the lung cancer subgroup (RR = 4.0, p = 0.02, two-tailed). When the 30 lung cancer cases were compared to an alternative control group consisting of 60 subjects matched for age and smoking habits, an estimated RR of 4.5 was found. A moderate, but not significant association between lung cancer and definite asbestos exposure was also found (RR: 2.3). As most workers are exposed to a variety of industrial agents throughout their working careers, further development of methods for characterizing combined exposures are needed, both for retrospective and prospective purposes.