Modern clinical, diagnostic and therapeutic approaches in characterization of the autosomal dominant polycystic kidney disease.
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to D Dimitrakov.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Eighty two patients with autosomal dominant polycystic kidney disease were examined clinically. Nephrolithiasis was diagnosed in 23 patients (28.1%). In 17 (73.5%) the lithiasis was bilateral. There were no patients with nephrolithiasis under the age of 20 years. The disease frequency increased in the patients between 21 and 40 years (38.5%) reaching 58.1% in those above 41 years. Nephrolithiasis in autosomal dominant polycystic kidney disease is not induced by the chronic renal failure. The opposite is more likely-nephrolithiasis precipitates the onset of renal failure. The autosomal dominant polycystic kidney disease is an etiologic factor for lithiasis.
Recombinant erythropoietin was given to six renal anaemia patients (2 male and 4 female, aged 38-66 years) with chronic renal failure in the predialysis state. Eprex (Cilag, Switzerland) was used in the treatment. The preparation was administered subcutaneously, thrice weekly for 6 months, at a mean dose of 50 U/kg. The aim of the therapy was to keep haemoglobin in the target range of 100 and 120 milligrams. No allergic reactions or other forms of intolerance to the preparation were noticed. The mean baseline haemoglobin level prior to treatment (75.5 +/- 4.06 milligrams) increased to 96.3 +/- 6.9 milligrams at three months and 106.0 +/- 7.1 milligrams at six months (P < 0.01). The baseline MCHC increased from 313.6 +/- 2.7 milligrams to 324.3 +/- 4.29 milligrams (P < 0.05) during the third month of treatment. Hematocrit also increased significantly-from 0.23 +/- 0.01 to 0.31 +/- 0.01 (P < 0.01) during the third and to 0.36 +/- 0.02 (P < 0.001) during the sixth month of treatment. The erythrocyte counts from 2.73 +/- 0.2 x 10(12)/l reached 3.69 +/- 0.24 x 10(12)/l (P < 0.01) at three months and 4.01 +/- 0.27 x 10(12)/l (P < 0.001) at six months. Reticulocyte counts increased from 1.93 +/- 0.37/1000 to 4.06 +/- 0.6/1000 after one month of treatment (P < 0.02) reaching the highest values during the second week of treatment. After the fourth week, reticulocyte number fluctuated slightly but not significantly above the baseline. The serum iron decreased from 12.0 +/- 0.36 mumol/l to 10.5 +/- 1.0 mumol/l (P < 0.05) and 9.93 +/- 0.9 mumol/l (P < 0.02) at three and six months, respectively. The results revealed a non-significant reduction of serum ferritin and transferrin in the course of treatment. We also found a strong positive correlation between the dose of Eprex applied and the haemoglobin, hematocrit and the erythrocyte values in the treated patients.
Digital intravenous subtraction angiography (DSA) of the kidneys provides an alternative means to achieve better screening of suspected, symptomless and unclear forms of autosomal dominant polycystic kidney disease (ADPKD). The method's capabilities for a quantitative analysis makes it particularly useful in patients with arterial hypertension. We report our experience in using DSA in 36 patients of whom 11 were with proven ADPKD and 15 with suspected ADPKD. The results analysed were correlated with laboratory data obtained in 28 healthy subjects. The importance of the intravenous DSA is underscored as a possible investigation modality for a quantitative analysis in relatively normal haemodynamic conditions of imaging the two kidney's symmetrically and normal conditions for comparison.
High-resolution cytogenetic analysis was performed on peripheral blood lymphocytes of 11 patients (seven women and four men, range 24-56 years) with proven autosomal dominant polycystic kidney disease (ADPKD). A total of 449 metaphases (an average of 41 per patient) were analyzed. In two of the women changes in the karyotype were found in a single cell: del(3), (q21) in one of them and Int.del(6), (q11q21) in the other. Analysis of the remaining patients, including those in which ADPKD was combined with oligophrenia, did not reveal any deviations from the normal karyotype. Therefore, the established chromosome changes are non-specific and of little importance in diagnosing ADPKD.
This study was undertaken to investigate the dynamics of glomerular filtration and serum beta 2-microglobulin in patients with confirmed autosomal dominant polycystic kidney disease (ADPKD) without chronic renal failure (CRF). Twenty five patients (11 women and 14 men, age range 15 to 56 years) with echographically and computer-tomographically proven ADPKD were entered into the study. Glomerular filtration was followed using the 24 hour creatinine clearance and beta 2-microglobulin serum level was measured radioimmunologically using an ABBOTT laboratories kit. 12 patients had a significantly reduced glomerular filtration: 1.01 +/- 0.05 ml/s compared with 2.12 +/- 0.15 ml/l in the control group (P < 0.001). This group of patients also had a significantly increased level of the serum beta 2-microglobulin: 3.54 +/- 0.47 micrograms/l versus 1.42 +/- 0.28 micrograms/l in healthy controls (P < 0.001). Seven of the patients showed normal glomerular filtration and significantly increased beta 2-microglobulin: 2.65 +/- 0.46 micrograms/l (P < 0.05). The glomerular filtration in six of the patients was found to be significantly increased (hyperfiltration) 2.65 +/- 0.04 ml/s (P < 0.001) while their serum beta 2-microglobulin level tended to rise (2.25 +/- 0.3 micrograms/l). We believe that glomerular hyperfiltration combined with the increased level of the serum beta 2-microglobulin can be used as an early marker of ADPKD.
40 patients (26 children and 14 adults) with clinico-genealogic and echographic evidence of autosomal dominant polycystic kidney disease (ADPKD) were subjected to a conventional noncontrast computer tomography (CT) of the kidneys. In children, computer tomography proved to be more sensitive than echography of the kidneys for detecting ADPKD. The two diagnosis coincided in 50% of the cases. Comparison of the echographic and computer tomographic diagnoses in adults suspected of having ADPKD showed a high rate of coincidence (92.86%). Computer tomography is recommended for patients with inconclusive echographic findings for ADPKD. In such cases it can detect the disease in early childhood allowing efficacious follow-up and prophylaxis of complications.
Recombinant erythropoietin was used in the treatment of the anemic syndrome in 5 patients (4 women and 1 man), aged 45-63, with confirmed autosomal dominant polycystic kidney disease. All patients were with II stage chronic renal insufficiency. The treatment was conducted with Eprex (Silag, Switzerland) administered subcutaneously in a dose of 50 U/kg of body weight for three months. Once weekly, hemoglobin, hematocrit, erythrocytes, and serum iron were investigated in all patients. Simultaneously, we used recombinant erythropoietin in the same dose and treatment protocol on a control group of 3 women and 2 men with II stage chronic renal insufficiency but without polycystic kidney disease. The control patients were suffering from other diseases leading to uremia. In both groups, the hemoglobin and hematocrit were found to be significantly increased whereas their serum iron tended to decrease which required inclusion of iron containing preparations in the treatment. We found no significant differences both in the dynamics of influencing the disease and in the final results of the treatment with erythropoietin between the patients with polycystic kidney diseases and those without polycystosis and chronic renal insufficiency. No allergic reactions were observed during treatment. Arterial pressure was elevated in all patients. We think that recombinant erythropoietin can be used successfully in the treatment of renal anemia in patients with polycystic kidney disease and chronic renal insufficiency in the predialysis stage.
Indirect DNA analysis was performed on 12 families totalling 80 people. The analysis used five genetic markers flanking the gene: 3'HVR, pGGG, 218 EP6, 24-1, 26-6. In 11 of the families (92%), a linkage with the PKD1 gene in chromosome 16 was established. In one family, the disease did not segregate with the polymorphic markers of PKD1-locus, thus excluding any possibility that a mutation in this locus was the cause of the autosomal dominant polycystic kidney disease (ADPKD). A correlation was discovered between the positive echographic diagnosis and the genotype in the PKD1-dependent patients with ADPKD. In 28.6 percent of the children studied, and in 12.5 percent of subjects under the age of 30, the echographic diagnosis was corrected through DNA analysis.
Computertomographic densohistogramic analysis of the renal cortex was performed on 36 children aged seven to 19. The clinicogenealogical and echographic findings suggest the presence of autosomal dominant polycystic kidney disease (ADPKD). Diagnoses made on the basis of two methods (echography and computer tomography) coincided in only 46.15 percent of examined cases. Histogramic analysis confirmed the echographic diagnosis of ADPKD in 38.46 percent of the remaining cases while it rejected the ADPKD diagnosis in 15.39 percent. Computer tomographic densohistogramic analysis is recommended for children when echographic findings suggest the presence of ADPKD. It allows early detection of the disease, effective medical surveillance and prophylaxis of complications.
By their nature, more than 98 percent of renal tumours are malignant. Clinically, early symptoms of malignancy are difficult to detect. Because of this, treatment of tumorous formations in the kidneys still is unsatisfactory. In general diagnostic terms, angiographic study can play an important role as a preoperative method that more accurately defines the degree of the spread of cancer as well as the extent of renal vessel involvement in this process. The authors report their experience in performing digital subtraction angiography (DSA) in 39 patients with renal tumours. The advantages of the method are emphasized by a comparison of 38 intra-arterial digital subtraction renal vasographic studies and 11 cavographic studies with respect to reduced irradiation doses and contrast material. In addition, the method allows qualitative image processing and the performance of therapeutic procedures such as embolization, which was done in 17 patients.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
A case of a 20-year-old woman who developed a hemolytic-uremic syndrome while using the contraceptive drug Rigevidon is reported. Clinically the disease was manifested by acute renal failure, thrombocytopenic purpura and hemolytic anemia. The treatment with antiaggregants, anticoagulants, hemodialysis and plasmapheresis was without effect. The diagnosis was proved by the postmortem examination. The risks of the use of oral contraceptives and the need of new and better methods for contraception are discussed.
Explore the source record for details and available documents.
A case is presented of a 65 years old woman with a rheumatoid arthritis III stage who had developed a nephrotic syndrome due to the treatment with Feloran. The biopsy examination showed the pathomorphologic pattern of glomerulonephritis with minimum changes. The discontinuance of the Feloran treatment led to a full disappearance of the nephrotic syndrome. It is recommended that Feloran treatment should not be applied to patients with previous renal lesions.
Explore the source record for details and available documents.