Publications by authors named "Dagmara Roszkowska-Bjanid"

6 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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http://dx.doi.org/10.1016/j.kint.2020.10.040DOI Listing
June 2021

A rare complication of systemic lupus erythematosus in a 9-year-old girl: Answers.

Pediatr Nephrol 2020 05 10;35(5):781-785. Epub 2019 Dec 10.

Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Poland, ul. 3 Maja 13/15, 41-800, Zabrze, Poland.

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http://dx.doi.org/10.1007/s00467-019-04412-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096361PMC
May 2020

A rare complication of systemic lupus erythematosus in a 9-year-old girl: Questions.

Pediatr Nephrol 2020 05 10;35(5):777-779. Epub 2019 Dec 10.

Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800, Zabrze, Poland.

Serious renal involvement in systemic diseases is common and generally constitutes a pivotal prognostic factor, making those pathology frequently seen in nephrology departments. Authors describe the case of a nine-year-old girl with lupus nephritis. After admission the patient's state deteriorated over a period of a few days, with an unremitting high-grade fever, significant weakness and drowsiness, generalized erythema, and decrease of the kidney function to eGFR nadir of 56 ml/min/1,73m . Treatment with pulsed methylprednisolone was started. After the first pulse the general state of the patient improved slightly, although laboratory tests showed an alarming evolution, with the exacerbation of anemia, leukopenia, neutropenia, increase of serum CRP concentration, extremely high D-dimer concentration and increase in activity of lactate dehydrogenase. The concentration of ferritin rose reaching the level of 540 μg/l, triglicerydes level was also high. Intravenous cyclophosphamide pulse therapy was added to the ongoing steroid treatment, and resulted in a radical patient improvement. Authors underline that it seems important to be aware of rare, non-renal, but potentially devastating complications of systemic diseases, like in this clinical case: the secondary hemophagocytic lymphohistiocytosis (HLH). When HLH complicates a rheumatic disease, it is also referred to as macrophage activation syndrome (MAS). Unfortunately treatment of MAS is still based on reports provided by individual centres and gathered own experiences so drawing up unambiguous diagnostic criteria will be valuable in future. The treatment should be individually tailored, and more specific evidence-based recommendations are needed.
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http://dx.doi.org/10.1007/s00467-019-04411-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096360PMC
May 2020

Non-dipping status and selected adipokines concentration in children with primary arterial hypertension.

Clin Exp Hypertens 2017 21;39(8):718-725. Epub 2017 Jun 21.

b Chair and Clinical Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze , Medical University of Silesia in Katowice , Zabrze , Poland.

High blood pressure (BP) in children and adolescents is associated with increased risk of persistent hypertension (HT) in adulthood and, consequently, cardiovascular disease and target organ damage.

Aim: The values of selected anthropometric parameters and laboratory test results including leptin and apelin concentration were evaluated with regard to averaged values of office BP measurements and 24-hour ABPM.

Material And Methods: The study included 55 children: 23-with primary HT and coexisting overweight or obese (HT-OB), 16-with primary HT and normal weight (HT-NW), and 16 healthy children (C).

Results: The concentration of leptin and apelin in HT-OB children was significantly higher than in the C and HT-NW group. A similar finding for leptin level was demonstrated in comparison of HT-NW with C group. In children with HT-OB, the lack of decline in nocturnal DBP was associated with significantly higher BMI and the Cole's Index value. Children with HT-OB and lack of decline in nocturnal SBP showed lower leptin and insulin concentrations, and lower values of HOMA-IR as compared with dipping children. Positive correlation in the whole study group was found between adipokines levels and BP measurements. In conclusion, children with primary HT show higher concentration of adipokines compared with their healthy peers. The data on relationship of serum adipokines levels with anthropometric and BP parameters in children may be helpful to clarify the sequence of disturbances in the cardiovascular system in adults, which requires further examination.
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http://dx.doi.org/10.1080/10641963.2017.1324474DOI Listing
May 2018

Rare case of nephrocalcinosis in a 14-year-old girl: Answers.

Pediatr Nephrol 2017 04 6;32(4):609-613. Epub 2016 Jul 6.

Chair and Clinical Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800, Zabrze, Poland.

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http://dx.doi.org/10.1007/s00467-016-3440-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334409PMC
April 2017

Rare case of nephrocalcinosis in a 14-year-old girl: Questions.

Pediatr Nephrol 2017 04 6;32(4):607-608. Epub 2016 Jul 6.

Chair and Clinical Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800, Zabrze, Poland.

A 14-year-old Caucasian girl with a history of primary hypoparathyroidism and unstable calcium and phosphorus levels and on ongoing treatment was admitted to the Department of Pediatric Nephrology because of the onset of nephrocalcinosis and difficulties achieving normocalcemia. Coexistence of hypoparathyroidism, oral candidiasis, dental enamel hypoplasia, and subclinical Hashimoto's disease was strongly suggestive for autoimmune polyglandular syndrome (APS) type I. One of the clinical implications of this diagnosis is the high probability of future occurrence of adrenal insufficiency and hence the importance of maintaining a high level of suspicion in case of the onset of symptoms like weakness, fainting, hypotonia, or hyperkaliemia. Addison's disease would, in fact, be quite challenging for the future management of this patient.This clinical quiz highlighted the importance of careful evaluation of all multiorgan symptoms occurring in a patient to prevent further complications.
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http://dx.doi.org/10.1007/s00467-016-3434-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334399PMC
April 2017
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