Publications by authors named "Alina Rabiega"

3 Publications

  • Page 1 of 1

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.

Kidney Int 2021 06 10;99(6):1451-1458. Epub 2020 Dec 10.

Rare Diseases Centre, Medical University of Gdańsk, Gdańsk, Poland; Clinical Genetics Unit, Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gdańsk, Gdańsk, Poland. Electronic address:

A study of 269 children enrolled into a National Registry for children with persistent glomerular hematuria identified 131 individuals with genetically confirmed X-linked Alport Syndrome. A single variant c.1871G>A p.Gly624Asp (G624D) in COL4A5 was predominant and accounted for 39% of X-linked Alport Syndrome in unrelated Polish families (44 of 113). To evaluate its origins, the genetic variation in a 2.79 Mb segment encompassing the COL4A5 locus on chromosome X was assessed. All G624D alleles were found on the same rare haplotype background, indicating a founder effect dating back to the 12-13th century. The phenotypic data of 131 children with X-linked Alport Syndrome and their 195 affected adult relatives revealed that the G624D variant was associated with a significantly milder clinical course in comparison to other pathogenic COL4A5 variants. Furthermore the clinical course of this genetically uniform cohort was milder than that observed in individuals with other COL4A5 missense mutations. In spite of the benign clinical manifestation throughout childhood and early adulthood, the G624D variant confers significant risk for both kidney failure and deafness in males, albeit 20-30 years later than that observed in individuals with other COL4A5 pathogenic variants (50% cumulative risk of starting dialysis at 54 years (95% confidence interval: 50-62) v. 26 years (95% confidence interval: 22-30)). Thus, males with G624D are candidates for existing and emerging therapies for Alport Syndrome.
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June 2021

Dental caries-related primary hypertension in children and adolescents: Cross-sectional study.

Oral Dis 2020 Oct 31. Epub 2020 Oct 31.

Department of Histology and Embryology, Poznan University of Medical Sciences, Poznan, Poland.

Background: Hypertension is a growing clinical problem in pediatric population. Also, the cause of hypertension is usually unknown and it may result from systemic inflammation related to tooth decay.

Aim: To estimate the potential association in cross-sectional study between tooth decay and hypertension in children and adolescents.

Patients And Methods: Study group-65 children diagnosed with primary arterial hypertension; control subjects-44 normotensive children. Blood pressure, dental examination, measurement of salivary cortisol, alpha-amylase, secretory IgA, and lysozyme concentrations were performed in all of the children.

Results: Hyper- and normotensive children had similar peripheral blood morphology and serum biochemical parameters, except of uric acid concentration, which was significantly higher in the study group (p = .047). Salivary evening concentrations of cortisol and alpha-amylase were significantly higher in hypertensive children (p = .002 and p = .004, respectively). Although 24-hr systolic blood pressure (SBP), including daytime and nighttime SBP, correlated with "decay," "microalbuminuria," "BMI," and "glomerular filtration rate" (r > .75, r > .7, r < .68, and r < .43, respectively), in multivariate analysis only "decay" was associated with hypertension both in children and in adolescents (p < .0001).

Conclusion: Tooth decay in children/adolescents might be regarded as a potent trigger factor of hypertension in individuals in whom all other causes of secondary arterial hypertension have been excluded.
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October 2020

Comparison of cuff-based and cuffless continuous blood pressure measurements in children and adolescents.

Clin Exp Hypertens 2020 Aug 15;42(6):512-518. Epub 2020 Jan 15.

Department of Pediatric Nephrology and Hypertension, Poznan University of Medical Sciences , Poznan, Poland.

Objective: In recent times, new methods of blood pressure measurements have been introduced, including cuffless blood pressure (BP) measurement device using pulse transit time (PTT) for calculation of BP values. However, it is still unknown how values obtained with a new cuffless device compare with standard ambulatory measurements in children. The main aim of the study was to investigate whether BP values measured by a cuffless PTT device are comparable with measurements by a standard upper arm cuff-based BP device.

Methods: Thirty children were prospectively included. Blood pressure measurements using the cuffless device (Somnotouch-NIBP) and cuff-based standard device (Omron 907) were performed simultaneously on the left and right arm.

Results: Mean systolic BP of the standard measurements was 123,47 ± 14,91 mmHg and 127,48 ± 15,98 mmHg ( < .001) measured by cuffless method. Mean diastolic BP of the standard ABPM measurements was 66,88 ± 11,86 mmHg and 68,52 ± 12,36 mmHg ( < .001). There were significant positive correlations between standard and cuffless measurements.

Conclusion: The results show that the created PWV-BP function produces a significant correlation between BP derived from the PWV and the SBP measured by sphygmomanometry. When applying this device in clinical practice, one may keep in mind that the reported mean values over 24 hours, awake and asleep time are not directly interchangeable with cuff-based standard 24-hour BP values. The measured BP values were higher by the new technique. Although differences in SBP between both methods reached values up to 20 mmHg, we think that the development of a cuffless BP monitoring system will provide novel solutions in various medical situations.
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August 2020