Preclinical diagnostics for polycystic kidney disease.
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Biomedical subjects
Publications and source records attributed to M Merta.
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The authors compare changes of intraocular pressure during haemodialysis and haemofiltration in six patients. The measurements were made with the patients in a sitting position, using an applanation tonometer according to Perkins, during both operations every hour. A rise to 25 torr was recorded in one patient repeatedly during haemofiltration in both eyes one hour after the blood pressure had risen to 220/120 and 210/110. In the other patients the variations of the intraocular pressure were within the physiological range. Based on data in the literature the authors recommend the use of haemofiltration in patients with glaucoma and after eye surgery.
Arterial hypertension is found in as many as 75% patients with autosomal dominant polycystic kidneys with normal renal function, its pathogenesis is however not quite clear so far. The authors examined 16 patients with polycystic kidneys with normal or only slightly reduced renal function (plasma creatinine lower than 140 umol/l), 8 of these patients were normotonic (N) and 8 hypertonic (H). In all examined subjects right-sided cardiac catheterization was performed with assessment of the minute cardiac volume by thermodilution. To all patients in the course of one hour 1500 ml saline per 70 kg body weight were administered and the haemodynamic examinations were repeated after termination of the infusion. In all subjects before and after expansion the plasma renin activity was assessed (PRA), as well as plasma aldosterone (PA), plasma catecholamines (PC) and the atrial natriuretic factor (ANF), the renal blood flow and glomerular filtration by means of clearance and extraction of PAH and inulin clearance. The authors did not find differences in plasma concentrations, cardiac output and splanchnic and renal ANF extraction in groups N and H, nor in PRA, PA and PC. Volume expansion led in both groups to a comparable rise of ANF and suppression of PRA and PA. Group H did not differ from group N in any of the investigated haemodynamic and renal parameters except for systemic vascular resistance. In hypertensive patients before expansion a close correlation was found between pressure in the pulmonary artery in a wedged position and diuresis (r = 0.935, p less than 0.01) and natriuresis (r = 0.895, p less than 0.01). The volume expansion was in both groups associated with a comparable rise of diuresis, the haemodynamic response of patients N and H was however quite different. While in patients of group N a decline of the systemic vascular resistance occurred as well as an increase of the minute volume without a change of the renal flow and glomerular filtration, in hypertonic patients the systemic vascular resistance and minute volume did not change but there was a significant rise of the renal flow and glomerular filtration. The relationship of diuresis and natriuresis of hypertensive patients with polycystic kidneys to volume parameters and the rise of the renal perfusion pressure during volume expansion indicates the importance of pressure natriuresis for ensuring the sodium and volume homeostasis in these patients.
The authors elaborated a method for assessment of the renal lithium clearance, CLr, the results of which correlate well with the plasmatic clearance (CLp] (r = 0.785, p less than 0.05). This correlation improved substantially after correction of CLr to the clearance of endogenous creatinine, CLcr (r = 0.945; p less than 0.05). The mean values of CLr of the investigated group--26.4 ml/min are in agreement with the results published by other authors. A significant correlation between CLr and CLcr (r = 0.826, p less than 0.05) along with comparison of the intraindividual variability of assessed results indicates that it is better to use as a parameter of sodium absorption from the proximal tubule the fractional lithium clearance rather than absolute values of CLr.
The authors examined, using nephrological, genealogical and molecular genetic methods, 85 subjects from 19 families with autosomal dominant heredity of polycystic kidney disease. Using the probe 3HVR alpha-globin and restriction endonuclease Pvu II, the authors assessed 95% informative families in the given group and the reliability of the diagnosis was also 95%. The authors tested the homogeneity of the disease in the Czech population and the applicability of the mentioned probe and endonuclease for molecular genetic testing of our population.
Using nephrological, genealogical and molecular genetic methods, the authors examined 85 members of 19 families with autosomal dominant polycystic kidney disease. With the aid of probe 3'HVR, alpha-globin and restriction endonuclease Pvu II, the families were found 95% informative. The rate of diagnostic reliability was also 95%. The authors verified the homogeneity of the disease in the Czech population and the applicability of the probe and endonuclease for molecular gene diagnostics in the population.
In patients with chronic kidney failure in the long-term dialysis programme multiple minute cysts frequently develop in the shrunken kidneys. In addition to the cysts, in 20% of patients there are also multiple kidney tumours causing severe complications. In most cases the clinical picture of the disease is insignificant, hematuria being the most frequent manifestation. The authors present their cohort of 21 patients with irreversible kidney failure, who have been examined by computer tomography in the 1986-1987 years. The mean period of dialysis programme was 5.7 years, chronic glomerulonephritis and interstitial nephritis being the basic disease. The patient were, according to the results of computer tomography, divided into four groups: 1. the presence of cysts or tumours was not demonstrated, 2. multiple cysts were found in bilateral localization, 3. less than 3 cysts were found, 4. there was a kidney tumour. A factor causing the development of the cysts has not yet been identified. It is presumed that the disease is caused by a biologically active substance which is not efficiently dialyzed. On the basis of the present work the authors recommend the aimed examination of the kidneys in patients at the stage of chronic kidney insufficiency and particularly in patients subjected to dialysis for long period of time. The recommended examination is by computer tomography and the attention should be centered to possible occurrence of acquired cystic disease of kidney tumours.
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