Biomedical subjects

R Rysavá

Publications and source records attributed to R Rysavá.

At least 19 recordsLinked to original sources

PubMed2006

The influence of the endothelin-converting enzyme-1 gene polymorphism on the progression of autosomal dominant polycystic kidney disease.

UNLABELLED: BACKGROUND; A significant phenotypical variability is observed in autosomal dominant polycystic kidney disease (ADPKD), the most common renal hereditary disease. Endothelin-1 (ET-1) has been suggested to be an important disease-promoting factor of the kidney. Endothelin-converting enzyme-1 (ECE-1) is the main protease responsible for ET-1 generation by cleavage of its functionally inactive precursor. We examined the influence of the ECE-1b C-338A polymorphism on the progression of ADPKD toward end-stage renal disease (ESRD). The A allele was suggested to be associated with higher plasma level of ET-1. METHODS: 200 ADPKD patients (107 males, 93 females) who had reached ESRD were analyzed. Patients were divided into three groups: (1) 47 patients (23 males, 24 females) with ESRD later than in 63 yr (slow progressors); (2) 71 patients (38 males, 33 females) with ESRD before 45 yr (rapid progressors); and (3) 82 patients (46 males, 36 females) with ESRD between 45-63 yr. Moreover, we analyzed 160 genetically unrelated healthy Czech subjects as the control group (82 males, 78 females, mean age 51.4 +/- 8.2 yr). DNA samples from collected blood were genotyped for ECE-1b C-338A polymorphism using described polymerase chain reaction (PCR) followed by restriction enzyme digestion. We compared the frequencies of different genotypes between the groups of slow and rapid progressors and the ages of ESRD with regard to different genotypes. RESULTS: The ECE-1b C-338A genotype distribution showed no differences among the groups of slow progressors, rapid progressors, ADPKD group with ESRD between 45-63 yr and control group. Comparing the ages of ESRD of all patients, we did not find significant differences in the ages with regard to different genotypes: CC (51.5 +/- 10.1 yr), AC (51.6 +/- 11.4 yr), AA (48.2 +/- 5.9 yr). There was a tendency to lower age of ESRD in AA homozygotes in comparison with other genotypes (t-test, p = 0.12). We found no influence of gender. CONCLUSION: We excluded the effect of ECE-1b C-338A polymorphism on the progression of ADPKD. We could observe a mild tendency toward faster decline of renal function in AA homozygous individuals.

Aspartic Acid Endopeptidases↗

PubMed2005

[Reconstruction surgical procedures for iatrogenic injuries to the ureter. Examples of uncommon, however successful approaches to their management].

The authors present several less usual reconstructions of ureters after the primary iatrogenic lesions. The appropriate ureteric capacity to drain the urine after previous injury is quite demanding and hence before the definitive decision is made the wholesome health status of the patient is to be considered and all possible solutions should be weighted. The efficient primary urinary diversion above the lesion is unavoidable. The genuine reconstruction could be deferred by several weeks or months in the view that in some cases the least invasive (endourologic) methods can completely avoid the need of open surgery in difficult adhesions after previous major surgery.

Abdomen↗

PubMed2005

Does electron microscopy change the view of the diagnosis of IgA nephropathy?

Our study is aimed to reveal the frequency and clinical significance of the coincidence of two widely spread entities, e.g. minimal change disease (MCD) and IgA nephropathy (IgAN), claimed to be found in an overwhelming number in some Asian regions. We retrospectively analyzed clinical and histological data from 627 renal biopsies, performed in our department from January 2002 to January 2005 and completed electron microscopy in 112 specimens diagnosed as IgAN. The coincidence of IgAN and MCD was found in 8 patients (7.1%). The coincidence of IgAN and minimal change nephrotic syndrome (MCNS) clinically--especially presence of nephrotic syndrome and the response to drug therapy (with corticosteroids)--behaves as "pure" MCN. Our data from Czech Republic seem to suggest that the combination of IgAN with MCNS can be found relatively frequently not only in Asian patients (as stressed by some authors of Asian origin) but also in European inhabitants. The pathogenesis of the coincidence of IgAN and MCD needs to be elucidated by further studies.

Biopsy↗

PubMed2004

Daily oral versus pulse intravenous cyclophosphamide in the therapy of ANCA-associated vasculitis--preliminary single center experience.

The aim of the multicentric randomized trial CYCLOPS is to optimize the treatment of induction of remission in patients with generalized, but not immediately life-threatening ANCA (antineutrophil cytoplasmic antibodies) -associated vasculitis. This will be achieved by reducing the dose of cyclophosphamide by administering it as intermittent pulses. The lower cumulative dose will be very probably accompanied with lower toxicity, whereas the effectivity should be comparable. We have enrolled 28 patients to the study. At present, 18 of them are suitable for evaluation. Our preliminary results show that pulse intermittent administration of cyclophosphamide is safer from the point of morbidity and mortality due to infectious complications. In our hands, this treatment modality does not seem to be less effective than the conventional daily oral cyclophosphamide. However, unambiguous results and treatment recommendations will not be available until the final evaluation of all patients enrolled in the trial.

Administration, Oral↗

PubMed2004

Focal segmental glomerulosclerosis in solitary kidney in WAGR syndrome.

WAGR syndrome consists of Wilms' tumour, aniridia, genitourinary malformations and mental retardation, and is associated with chromosomal microdeletion of 11p13. We report a case of young male, exhibiting several typical features of WAGR syndrome (e.g. WT, aniridia and genitourinary abnormalities), but missing some other (mental retardation and chromosomal abnormality absent). Renal biopsy performed in our patient for unexplained proteinuria showed focal segmental glomerulosclerosis, presumably of secondary origin; the decrease of proteinuria was achieved by the firm control of BP in conjunction with the reduction of body weight.

Adult↗

PubMed2003

Current treatment strategies in ANCA-positive renal vasculitis-lessons from European randomized trials.

Antineutrophil cytoplasmic antibody (ANCA)-positive renal vasculitis is the most common cause of rapidly progressive (crescentic) glomerulonephritis. Its life-threatening natural course may be modified substantially by current treatment modalities. The European Vasculitis Study Group (EUVAS) developed a subclassification of ANCA-positive vasculitides based on the disease severity at presentation, and have organized (so far) two waves of clinical trials. The first wave of randomized clinical trials had the aim of optimizing the existing therapeutic regimens; the second wave concentrated on testing some newer therapeutic approaches. Here, the design and available results of the first wave and the design of some second wave trials are reviewed briefly. The potential of the new targeted approaches (e.g. anti-tumour necrosis factor therapy) is also briefly mentioned.

Antibodies, Antineutrophil Cytoplasmic↗

PubMed2003

Genetics of diabetic nephropathy.

Diabetic nephropathy (DN) develops in approximately 40% of type 1 diabetic patients and is a leading cause of end-stage renal failure. Its rate of progression varies greatly among individuals. Several factors, including genetic predisposition, metabolic and haemodynamic alterations and various growth factors, may contribute to the initiation and progression of DN. The genetic background of DN is believed to be polygenic. Polymorphisms of different genes, mainly from the renin-angiotensin system, have been studied extensively, and some of them have been suggested to contribute to the development of DN. A search for genes and combinations of genes which could influence the development and progression of DN is in progress.

Diabetes Mellitus, Type 1↗

PubMed2003

Current therapeutic possibilities in primary and secondary amyloidosis and our experience with 31 patients.

Primary (AL) and secondary (AA) amyloidosis are systemic diseases characterized by a process of amyloid deposition in many organs with unsatisfactory survival of patients. Apart from surgical intervention in those patients with bronchiectasias or osteomyelitis, the possibilities of influencing the development of AA amyloidosis are limited. The milestone therapy in patients with rheumatic diseases includes early treatment with DMARDs (disease-modifying antirheumatic drugs). A new promising therapeutic alternative is represented by anti-tumour necrosis factor-alpha (TNF-alpha) drugs such as infliximab and etanercept. The last class of agents used in the treatment of AA interferes with fibril formation: iododoxorubicin and low molecular weight sulfates (fibrilex). In the group of patients with AL, in addition to the standard combination of melphalan and prednisone, other therapeutic approaches such as ASCT (autologous stem cell transplantation) and new drugs with different mechanisms of action have been added recently. For the future, we can expect the development of immunotherapy (both active vaccination and passive immunization). In our department, we have treated 17 patients with AL and 14 patients with AA amyloidosis since 1995. We used various treatment regimens in both groups of patients. The treatment stabilized the disease or achieved partial remission in only 36% of patients with AA amyloidosis despite the use of intensive therapeutic modalities, while in the AL group a response was achieved in 82% of patients. ASCT improves patients survival in AL amyloidosis, but strict selection criteria are necessary (less than two affected organs and no signs of myocardial dysfunction).

Adult↗

PubMed2003

Role of endothelin and nitric oxide in the pathogenesis of arterial hypertension in autosomal dominant polycystic kidney disease.

The pathogenesis of arterial hypertension in autosomal dominant polycystic kidney disease (ADPKD) is complex and likely dependent on interaction of hemodynamic, endocrine and neurogenic factors. We decided to evaluate the role of endothelin (ET1) and nitric oxide (NO) in the regulation of arterial blood pressure (BP) and to determine plasma levels of ET1 and NO in the group of patients with ADPKD. The ADPKD group (18 patients, 6 men + 12 women, mean age 44.6+/-11.7 years, with creatinine clearancecorrig > 1.1 ml/s) was compared with a control group of 27 healthy volunteers of comparable age. Plasma levels of ET1 assessed by direct RIA determination in the group of ADPKD patients (11.03+/-1.8 fmol/ml) were significantly increased (p<0.001) in comparison with the control group (2.66+/-0.58 fmol/ml), while no significant differences were observed between normotensive and hypertensive patients in the ADPKD group. Serum levels of NO were evaluated according to the determination of serum levels of their metabolites - nitrites/nitrates. Serum levels of NO in the group of ADPKD patients (39.85+/-.38 micro mol/l) were significantly higher (p<0.05) in comparison with the control group (22.7+/-1.20 micro mol/l), whereas in the ADPKD group no significant differences were observed between normotensive and hypertensive patients. Thus, our study supports the concept of complex alteration of both vasoconstrictor and vasodilator systems in the pathogenesis of arterial hypertension in ADPKD.

Adult↗

PubMed2003

[Is the current treatment of primary and secondary amyloidosis effective?].

BACKGROUND: Retrospective study about results of treatment of patients (pts) with primary (AL) and secondary (AA) amyloidosis is given. 31 pts with systemic forms of amyloidosis have been treated and followed-up in our department since 1993. METHODS AND RESULTS: 6 men and 11 women were in the AL group with the mean age of 59 years. Multiple myeloma was diagnosed in 9 pts, monoclonal gammapathy of undetermined significance (MGUS) was found in 8 pts. The kidneys were affected in all pts, heart in 59% of pts, liver, joints and skin in 26% of pts and polyneuropathy was detected only in 1 pt. Progression of renal insufficiency with decrease of glomerular filtration rate (GFR) was detected in the AL group at the end of follow-up period compared with the initial level (p < 0.05) despite the intensive treatment. The difference did not reach statistical significance in other investigated parameters. Median of survival was 13 months from the assessment of diagnosis. Partial remission of amyloidosis was achieved in 9 pts, stable disease was in 5 pts and in 3 pts the disease progressed. 4 men and 10 women were in the AA group with mean age of 58 years. Underlying disease was rheumatoid arthritis in 7 pts, ankylosing spondylitis in 2 pts, juvenile chronic arthritis in 1 pt, Crohn's disease in 2 pts, eosinophilic fasciitis in 1 pt and chronic abscesses in NK cell deficiency in 1 pt. The kidneys were affected in all pts, bowels and heart in 36% of pts. GFR (p < 0.05) and plasma creatinine (p < 0.01) significantly decreased at the end of follow-up period compared with initial levels. Median of survival was 30 months. Partial remission was achieved in 2 pts, stable disease was in 3 pts and progression was detected in 9 pts despite the use of various treatment regimens. CONCLUSIONS: Both forms of systemic amyloidosis represent severe disease with limited response to treatment. The use of new drugs is promising and could lead to better response to treatment.

Adult↗

PubMed2003

[Fibrillary glomerulonephritis].

An overview of fibrillary glomerulonephritis (GN) is given as well as the description of clinical course in four patients diagnosed and treated in our department. Fibrillary GN and immunotactoid glomerulopathy are entities, characterized by fibrillar and microtubular deposits in mesangium and the glomerular capillary loops. Decisive for diagnosis of fibrillary GN (resp. immunotactoid GN) remains the electron microscopy (EM) of the renal biopsy (RB) specimen. At the nephrologic division of 1st Internal Department of 1st Medical School of Charles University four cases of patients with fibrillary GN were diagnosed from the mid seventies (when both entities were newly described) by the end of the year 2001. In all patients the diagnosis was proven by EM. RB was indicated mainly for proteinuria, hematuria and decrease of renal function. On conclusion: though fibrillary GN/immunotactoid GN are relatively rare disorders, they represent entities, which should not be omitted in the differential diagnosis of nephrotic syndrome/renal insufficiency and which deserve further study.

Aged↗

PubMed2003

[Leptin in patients wit nephrotic syndrome].

Nephrotic syndrome (NS) remains a serious clinical setting characterized by marked proteinuria, hypoproteinemia and hypercholesterolemia, usually accompanied by the presence of oedemas. It could be presumed, that the newly discovered hormone leptin plays an important role in the complex metabolic processes occurring in patients with NS, in which apart from the changes in the hydratation, and the protein and lipid spectre profile changes, the alteration of the metabolism of glycides elicited by the treatment with corticosteroids (CS) is often observed. The aim of the study was to investigate the plasma levels of leptin and its plasma soluble receptor (sLe-R) before and after the treatment with CS and to evaluate their relationship with albuminemia and/or proteinuria. The study group consisted of 15 men and 15 women (mean age 49 +/- 13.7 years) with newly diagnosed NS, verified by renal biopsy, in which subsequently CS treatment was started. Before the treatment (period 1) and further one month (period 2) and six months (period 3) after the start of the treatment the following parameters were measured: body mass index (BMI), serum levels of creatinine, albumin, cholesterol, triglyceride, cholinesterase, proteinuria/24 hour and plasma levels of leptin and sLe-R. In comparison to the relatively high values of BMI in the period 1 a decrease of BMI towards the physiologic range was observed during the treatment periods. Statistically significant changes were also observed in proteinuria (decrease) and in serum cholesterol and albumin levels of whereas in other biochemical parameters, including plasma leptin and sLe-R levels, statistically significant changes were not found. A trend to negative correlation with borderline statistical significance could be observed between leptin and sLe-R. The results of our relatively unique study on leptin--dealing with long-term follow-up of the patients with NS suggest that regardless prominent metabolic alterations present in NS the plasma levels of leptin and sLe-R remain relatively stable, and that of regulation of leptin in this setting is probably complex and multifactorial.

Adolescent↗

PubMed2003

[Bartter syndrome or renal tubular acidosis?].

In normotensive patients (pts) with apparently inherited electrolyte disorder characterized by hypokalemia and with metabolic alkalosis the suspicion is usually pronounced on the diagnosis of Bartter syndrome or Gitelman syndrome. During the last two years three pts were admitted to our nephrologic unit of the 1st Internal Department of the 1st Medical School who presented with hypokalemia, metabolic alkalosis and alkalic urine and were followed previously under working diagnosis of (incomplete) renal tubular acidosis. In the article we give the description of the clinical picture in the three pts diagnosed as Bartter/Gitelman syndrome. In conclusion--the problems of differential diagnosis in pts with such a complex disorder of acidobase balance are discussed and new diagnostic approach with mutational studies is suggested.

Acidosis, Renal Tubular↗

PubMed2002

Mercury intoxication from skin ointment containing mercuric ammonium chloride.

OBJECTIVE: A one-year follow-up was performed of a 21-year-old man with a 16-year history of diabetes mellitus type I, who had been using ointment containing 10% mercuric ammonium chloride (hydrargyrum amidochloratum; HgNH(2)Cl) for eczema for approximately 3 weeks. Tiredness, fasciculations on the extremities and poor control of diabetes appeared after the end of the ointment treatment. Nephrotic syndrome and hypertension were diagnosed 1 month later. Two months after the ointment application the patient was very weak with tremors of the hands, almost unable to walk, and had lost 20 kg of body weight. He had severe neurasthenic symptoms and his behaviour suggested acute psychosis. METHODS: Internal, neurological and neuropsychological examinations were performed. Mercury in urine was determined by flameless atomic absorption spectrometry. RESULTS: The urine mercury level on admission was 252.0 microg/l. He was treated with Dimaval, sodium (2,3)-dimercaptopropane(-1)-sulphonate capsules for 12 days (total dose 6.3 g). The highest urine mercury excretion during antidote treatment was 2336.0 microg/24 h. The patient had proteinuria of up to 11.10 g/24 h, and renal biopsy revealed diffuse membranous glomerulonephritis of the 1st stage without apparent diabetic nephropathy. Similarly, neuropathy did not have typical signs of diabetic neuropathy. His clinical condition started to improve during the first 2 weeks. Further follow-up has shown slow normalisation of renal functions. After 1 year, proteinuria decreased to 0.62 g/24 h and body weight normalised. Neuropsychological and electromyographic findings became almost normal. CONCLUSION: Severe intoxication developed after a short period of ointment application. Most signs of damage disappeared in the course of 1 year, except mild proteinuria and neuropathy. The evolution was favourable and confirmed the primary role of mercury intoxication in the severe deterioration of the clinical status of the patient.

Administration, Topical↗

PubMed2002

[Mediators of amyloidogenesis and cytokines in dialysis-related amyloidosis].

BACKGROUND: Dialysis related amyloidosis (DRA) is a severe complication of the long-term dialysis treatment. beta 2 microglobulin and probably other factors influence the development of amyloid deposits. We investigated some of these factors during hemodialysis session. METHODS AND RESULTS: We investigated 20 patients undergoing regular hemodialysis treatment. Patients were divided into AMYL group (with histologically proven DRA) and NE-AMYL group (without signs of DRA). Plasma levels of following factors were investigated using standard ELISA kits: serum amyloid A (SAA), interleukin-6 (IL-6), macrophage-colony stimulating factor (M-CSF). In addition plasma concentrations of C-reactive protein (CRP) and beta 2 microglobulin (beta 2M) were investigated in the AMYL group. All these parameters were studied during different time periods of the hemodialysis session. Plasma levels of SAA and IL-6 did not increase during hemodialysis session and we did not find any difference in plasma levels of these factors between the group of patients with AMYLand NE-AMYL. Plasma levels of M-CSF increased during hemodialysis and its levels in AMYL group were significantly higher in comparison with NE-AMYL group at the end of hemodialysis session (5345.10 +/- 340.42 vs. 3458.45 +/- 332.15 pg/ml, p = 0.0011). A linear correlation was found between plasma levels of SAA and CRP during hemodialysis whereas no correlation was found between plasma levels of beta 2M and other factors. CONCLUSIONS: Our study suggests that plasma levels of M-CSF are increased in patients with chronic renal failure. Significant increase of M-CSF levels in the AMYL group could lead to greater activation of monocyte-macrophage system and could serve as factor supporting amyloid deposition process.

Amyloidosis↗

PubMed2002

[Kidney involvement in light-chain deposition disease].

An overview concerning different types of kidney involvement associated with monoclonal gammapathy (MG) is given, focused on light-chain deposition disease (LCDD). Pathophysiologic basis of LCDD remains in the light-chain tissue deposition (resp. in tissue deposition of immunoglobulin's stable domain). This mechanism is typical for monoclonal immunoglobulin's overproduction as found in MG. Clinical picture of LCDD reflects multiorgan character of disorder, while renal lesions rank among the most frequent, serious and best documented ones. Clinical data referring to a group of six patients, treated in our nephrologic department are presented. Diagnosis of LCDD was established on basis of the renal biopsy finding. Renal functions were decreased at the time of diagnosis in all patients, whereas haemodialysis treatment was started in one patient. On conclusion therapeutic possibilities of LCDD are discussed, in which number symptomatic therapy of renal failure is combined with corticosteroids therapy and cytostatic therapy; prognosis of most patients remains serious.

Aged↗

PubMed2001

[Multiple extrarenal complications in Wegener granulomatosis].

This is a case report of a patient with Wegener's granulomatosis (WG), who initially presented with a corneal perforation. In addition to the eye involvement, the pauciimmune necrotizing glomerulonephritis with crescent formation, E.N.T. and pulmonary involvement were diagnosed. The patient also suffered from the acute myocardial infarction, most likely due to coronal arteritis. In addition to the coronal ischaemia she also had vasculitis of the aortic valve due to the WG. Another rare complication was the massive intestinal bleeding. The patient had also a skin vasculitis and non-specific symptoms such as artralgias and fever. The correct diagnosis was supported by positive cANCA. A clinical and laboratory remission of the disease was achieved by combined immunosuppressive therapy. Subsequently, she developed a subglotic stenosis possibly due to reparative changes.

Adult↗

PubMed1999

Can serum amyloid A or macrophage colony stimulating factor serve as marker of amyloid formation process?

Amyloid formation depends on amyloid precursor production and is influenced by the activity of the underlying disorder and mediated by some proinflammatory cytokines. In this pilot study we tried to find some specific markers that could establish the activity of the disease. We investigated 45 samples of sera and 38 samples of urine from patients (pts) with secondary amyloidosis (AA), primary amyloidosis (AL), systemic autoimmune diseases with renal impairment (Vasc) and healthy controls (Co). Pts with AA had increased plasma levels of TNF alpha (9.97 +/- 4.22 vs. 2.63 +/- 1.34 pg/mL, p < 0.001) and SAA (43.14 +/- 16.0 vs. 3.42 +/- 0.7 ng/mL, p < 0.05) in comparison with Co. Plasma levels of M-CSF in the AA group were significantly increased in comparison with Co (1077.34 +/- 238.6 vs. 137.71 +/- 19.6, pg/mL, p < 0.001) and also in comparison with Vasc (482.24 +/- 86.7 pg/mL, p < 0.05). Urinary excretions of TNF alpha (8.92 +/- 8.1 vs. 0.17 +/- 0.11 microgram/mol creatinine, p < 0.01), sIL-6R (1.39 +/- 1.14 vs. 0.07 +/- 0.05 g/mol creatinine, p < 0.01) and M-CSF (650.2 +/- 153.7 vs. 33.3 +/- 8.6 micrograms/mol creatinine, p < 0.01) in AA were significantly increased in comparison with Co. Pts with AL had increased plasma levels of M-CSF (819.83 +/- 264.2 vs. 137.71 +/- 19.6 pg/mL, p < 0.05) and urinary excretion of M-CSF (865.0 +/- 188.4 vs. 33.3 +/- 8.6 micrograms/mol creatinine, p < 0.01) in comparison with Co. SAA has a low specificity for amyloidosis but is a sensitive acute phase reactant. TNF alpha, a proinflammatory cytokine, may reflect the activity of the underlying diseases in secondary amyloidosis. M-CSF was increased both in plasma and urine in amyloidosis groups and seems to be the most promising (possibly specific) marker of amyloidosis.

Amyloid↗