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Prof. Dr. med. habil. Kathrin Burgmaier

Faculty of Applied Healthcare Sciences

Professors

Professor

LA 27-2.16

0991/3615-8338

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Journal article
  • R. Ajiri
  • Kathrin Burgmaier
  • N. Akinci
  • I. Broekaert
  • A. Büscher
  • I. Dursun
  • A. Duzova
  • L. Eid
  • M. Fila
  • M. Gessner
  • I. Gokce
  • L. Massella
  • A. Mastrangelo
  • M. Miklaszewska
  • L. Prikhodina
  • B. Ranchin
  • N. Ranguelov
  • R. Rus
  • L. Sever
  • J. Thumfart
  • et al.

Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

In: Kidney International Reports vol. 7 pg. 1643-1652

  • 04.05.2022 (2022)

DOI: 10.1016/j.ekir.2022.04.095

show abstract

INTRODUCTION Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood. METHODS We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings. RESULTS We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1-6.0) years at initial diagnosis and a median follow-up time of 3.5 (0.2-6.2) years. Data on PKHD1 variants were available for 37 patients from 21 families. There were 8 patients from 7 families who required kidney replacement therapy (KRT) during follow-up. For 44 patients from 26 families, antihypertensive therapy was documented. Furthermore, 37 patients from 24 families had signs of portal hypertension with 9 patients from 6 families having substantial hepatic complications. Interestingly, pronounced variability in the clinical course of functional kidney disease was documented in only 3 sibling pairs. In 17 of 20 families of our cohort of neonatal survivors, siblings had only minor differences of kidney function at a comparable age. CONCLUSION In patients surviving the neonatal period, our longitudinal follow-up of 70 ARPKD siblings from 35 families revealed comparable clinical courses of kidney and liver diseases in most families. The data suggest a strong impact of the underlying genotype.
Journal article
  • P. Petsophonsakul
  • Mathias Burgmaier
  • B. Willems
  • S. Heeneman
  • N. Stadler
  • F. Gremse
  • S. Reith
  • Kathrin Burgmaier
  • F. Kahles
  • N. Marx
  • E. Natour
  • E. Bidar
  • M. Jacobs
  • et al.

Nicotine promotes vascular calcification via intracellular Ca2+-mediated, Nox5-induced oxidative stress, and extracellular vesicle release in vascular smooth muscle cells.

In: Cardiovascular Research vol. 118 pg. 2196-2210

  • (2022)

DOI: 10.1093/cvr/cvab244

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AIMS Smokers are at increased risk of cardiovascular events. However, the exact mechanisms through which smoking influences cardiovascular disease resulting in accelerated atherosclerosis and vascular calcification are unknown. The aim of this study was to investigate effects of nicotine on initiation of vascular smooth muscle cell (VSMC) calcification and to elucidate underlying mechanisms. METHODS AND RESULTS We assessed vascular calcification of 62 carotid lesions of both smoking and non-smoking patients using ex vivo micro-computed tomography (µCT) scanning. Calcification was present more often in carotid plaques of smokers (n = 22 of 30, 73.3%) compared to non-smokers (n = 11 of 32, 34.3%; P < 0.001), confirming higher atherosclerotic burden. The difference was particularly profound for microcalcifications, which was 17-fold higher in smokers compared to non-smokers. In vitro, nicotine-induced human primary VSMC calcification, and increased osteogenic gene expression (Runx2, Osx, BSP, and OPN) and extracellular vesicle (EV) secretion. The pro-calcifying effects of nicotine were mediated by Ca2+-dependent Nox5. SiRNA knock-down of Nox5 inhibited nicotine-induced EV release and calcification. Moreover, pre-treatment of hVSMCs with vitamin K2 ameliorated nicotine-induced intracellular oxidative stress, EV secretion, and calcification. Using nicotinic acetylcholine receptor (nAChR) blockers α-bungarotoxin and hexamethonium bromide, we found that the effects of nicotine on intracellular Ca2+ and oxidative stress were mediated by α7 and α3 nAChR. Finally, we showed that Nox5 expression was higher in carotid arteries of smokers and correlated with calcification levels in these vessels. CONCLUSION In this study, we provide evidence that nicotine induces Nox5-mediated pro-calcific processes as novel mechanism of increased atherosclerotic calcification. We identified that activation of α7 and α3 nAChR by nicotine increases intracellular Ca2+ and initiates calcification of hVSMCs through increased Nox5 activity, leading to oxidative stress-mediated EV release. Identifying the role of Nox5-induced oxidative stress opens novel avenues for diagnosis and treatment of smoking-induced cardiovascular disease.
Journal article
  • M. Verploegen
  • R. Vargas-Poussou
  • S. Walsh
  • H. Alpay
  • A. Amouzegar
  • G. Ariceta
  • B. Atmis
  • J. Bacchetta
  • P. Bárány
  • S. Baron
  • U. Bayrakci
  • H. Belge
  • M. Besouw
  • A. Blanchard
  • A. Bökenkamp
  • O. Boyer
  • Kathrin Burgmaier
  • et al.

Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.

In: Nephrology, Dialysis, Transplantation : Official publication of the European Dialysis and Transplant Association - European Renal Association vol. 37 pg. 2474-2486

  • (2022)

DOI: 10.1093/ndt/gfac029

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BACKGROUND Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. In this cross-sectional study, we assessed PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies. METHODS Clinical and laboratory data of 589 patients with Bartter and Gitelman syndrome were provided by members of the European Rare Kidney Diseases Reference Network (ERKNet) and the European Society for Paediatric Nephrology (ESPN). RESULTS A total of 285 patients with Bartter syndrome and 304 patients with Gitelman syndrome were included for analysis. Patients with Bartter syndrome type I and II had the highest median PTH level (7.5 pmol/L) and 56% had hyperparathyroidism (PTH >7.0 pmol/L). Serum calcium was slightly lower in Bartter syndrome type I and II patients with hyperparathyroidism (2.42 versus 2.49 mmol/L; P = .038) compared to those with normal PTH levels and correlated inversely with PTH (rs -0.253; P = .009). Serum phosphate and urinary phosphate excretion did not correlate with PTH. Overall, 22% of patients had low serum phosphate levels (phosphate-standard deviation score < -2), with the highest prevalence in patients with Bartter syndrome type III (32%). Serum phosphate correlated with tubular maximum reabsorption of phosphate/glomerular filtration rate (TmP/GFR) (rs 0.699; P < .001), suggesting renal phosphate wasting. CONCLUSIONS Hyperparathyroidism is frequent in patients with Bartter syndrome type I and II. Low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears associated with renal phosphate wasting.
Journal article
  • C. Lindemann
  • A. Wenzel
  • F. Erger
  • L. Middelmann
  • J. Borde
  • E. Hahnen
  • D. Krauß
  • S. Oehm
  • S. Arjune
  • P. Todorova
  • Kathrin Burgmaier
  • M. Liebau
  • F. Grundmann
  • B. Beck
  • R.-U. Müller

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

In: Kidney International Reports pg. 455-466

  • 28 December 2022 (2022)

DOI: 10.1016/j.ekir.2022.12.025

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INTRODUCTION Autosomal-dominant polycystic kidney disease (ADPKD) is the most common genetic cause of kidney failure. Because of the heterogeneity in disease progression in ADPKD, parameters predicting future outcome are important. The disease-causing genetic variant is one of these parameters. METHODS A multiplex polymerase chain reaction (PCR)-based panel (MPP) was established for analysis of 6 polycystic kidney disease (PKD) genes (PKD1, PKD2, HNF1B, GANAB, DZIP1L, and PKHD1) in 441 patients with ADPKD. Selected patients were additionally sequenced using Sanger sequencing or a custom enrichment-based gene panel. Results were combined with clinical characteristics to assess the impact of genetic data on clinical decision-making. Variants of unclear significance (VUS) were considered diagnostic based on a classic ADPKD clinical phenotype. RESULTS Using the MPP, disease-causing variants were detected in 65.3% of patients. Sanger sequencing and the custom gene panel in 32 patients who were MPP-negative revealed 20 variants missed by MPP, (estimated overall false negative rate 24.6%, false-positive rate 9.4%). Combining clinical and genetic data revealed that knowledge of the genotype could have impacted the treatment decision in 8.2% of patients with a molecular genetic diagnosis. Sequencing only the PKD1 pseudogene homologous region in MPP-negative patients resulted in an acceptable false-negative rate of 3.28%. CONCLUSION The MPP yields rapid genotype information at lower costs and allows for simple extension of the panel for new disease genes. Additional sequencing of the PKD1 pseudogene homologous region is required in negative cases. Access to genotype information even in settings with limited resources is important to allow for optimal patient counseling in ADPKD.
Journal article
  • A. Milzi
  • R. Dettori
  • R. Lubberich
  • Kathrin Burgmaier
  • N. Marx
  • S. Reith
  • Mathias Burgmaier

Coronary microvascular dysfunction as assessed by angiography-derived index of microvascular resistance co-localizes with and may explain the presence of ischemia in stress-cardiac magnetic resonance imaging in the absence of coronary artery disease.

In: Frontiers in Cardiovascular Medicine vol. 9 pg. 1060764

  • 24.11.2022 (2022)

DOI: 10.3389/fcvm.2022.1060764

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INTRODUCTION Ischemia with no obstructive coronary disease (INOCA) is a frequent phenomenon in the cath lab. A possible cause is coronary microvascular dysfunction (CMD), which may be assessed by invasive testing with possible complications; therefore, less invasive approaches have emerged, such as the angiography-derived index of microvascular resistance (aIMR). The aim of our study was to investigate the association of single-vessel aIMR as a measure of CMD with areas of INOCA in stress testing. METHODS We measured aIMR in 286 vessels from 102 patients undergoing both stress cMRI and coronary angiography. Groups were (a) INOCA group (93 vessels, 32 patients); (b) coronary artery disease (CAD) control group (116 vessels, 42 patients) with ischemia due to relevant stenosis; and (c) control group (77 vessels, 28 patients) without ischemia or relevant stenosis. RESULTS INOCA patients presented higher mean aIMR (28.3 ± 5.7) compared to both CAD patients (17.4 ± 5.7, p < 0.001) and controls (22.1 ± 5.9, p < 0.001). Furthermore, in INOCA patients aIMR was significantly increased (33.0 ± 8.1 vs. 25.8 ± 6.3, p = 0.021) in vessels with vs. without ischemia. Single vessel aIMR presented a very good diagnostic efficiency in detecting INOCA [AUC 0.865 (0.804-0.925), optimal cut-off 27.1, p < 0.001]. CONCLUSION CMD, as assessed by 3-vessel aIMR, co-localizes with and may explain the presence of ischemia in stress-cMRI in INOCA.
Journal article
  • A. Milzi
  • R. Dettori
  • R. Lubberich
  • Kathrin Burgmaier
  • N. Marx
  • S. Reith
  • Mathias Burgmaier

Quantitative Flow Ratio Is Related to Anatomic Left Main Stem Lesion Parameters as Assessed by Intravascular Imaging.

In: Journal of Clinical Medicine vol. 11

  • 12.10.2022 (2022)

DOI: 10.3390/jcm11206024

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INTRODUCTION Previously, an association between anatomic left main stem (LMS) lesion parameters, as described by intravascular ultrasound (IVUS) and fractional flow reserve (FFR), was shown. Quantitative flow ratio (QFR) is a novel, promising technique which can assess functional stenosis relevance based only on angiography. However, as little is known about the relationship between anatomic LMS parameters and QFR, it was thus investigated in this study. METHODS In 53 patients with LMS disease, we tested the association between anatomic assessment using OCT (n = 28) or IVUS (n = 25) on the one hand and functional assessment as determined by QFR on the other hand. LMS-QFR was measured using a dedicated approach, averaging QFR over left anterior descending (LAD) and circumflex (LCX) and manually limiting segment of interest to LMS. RESULTS The minimal luminal area of the LMS (LMS-MLA) as measured by intravascular imaging showed a consistent correlation with QFR (R = 0.61, p < 0.001). QFR could predict a LMS-MLA < 6 mm2 with very good diagnostic accuracy (AUC 0.919) and a LMS-MLA < 4.5 mm2 with good accuracy (AUC 0.798). Similar results were obtained for other stenosis parameters. CONCLUSIONS QFR might be a valuable tool to assess LMS disease. Further studies focusing on patient outcomes are needed to further validate the effectiveness of this approach.
Lecture
  • Kathrin Burgmaier

Risikofaktoren für das Nierenüberleben bei Patienten mit Autosomal rezessiver polyzystischer Nierenerkrankung (ARPKD) [ePoster-Vortrag].

In: Jahrestagung der Gesellschaft für Pädiatrische Nephrologie

Freiburg i. Breisgau

  • 17.05.2022 (2022)
Lecture
  • Kathrin Burgmaier

Hepatischer Phänotyp und Komplikationen bei Patienten mit Autosomal rezessiver polyzystischer Nierenerkrankung (ARPKD).

In: Jahrestagung der Gesellschaft für Pädiatrische Nephrologie

Freiburg i. Breisgau

  • 17.05.2022 (2022)
Lecture
  • Kathrin Burgmaier

Risk factors for kidney survival in patients with autosomal recessive polycystic kidney disease (ARPKD) [online presentation].

In: 54th Annual Meeting of European Society for Paediatric Nephrology

Ljubljana, Slovenia

  • 26.06.2022 (2022)
Journal article
  • A. Milzi
  • R. Dettori
  • R. Lubberich
  • S. Reith
  • M. Frick
  • Kathrin Burgmaier
  • N. Marx
  • Mathias Burgmaier

Coronary microvascular dysfunction is a hallmark of all subtypes of MINOCA.

In: Clinical Research in Cardiology: Official Journal of the German Cardiac Society

  • 02.09.2023 (2023)

DOI: 10.1007/s00392-023-02294-1

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INTRODUCTION Myocardial infarction without obstructive coronary artery disease (MINOCA) is a heterogeneous clinical condition presenting with myocardial necrosis not due to an obstruction of a major coronary artery. Recently, a relevant role of coronary microvascular dysfunction (CMD) in the pathogenesis of MINOCA has been suggested; however, data on this are scarce. Particularly, it is unclear if CMD is equally present in all subtypes of MINOCA or differentially identifies one or more of these conditions. Therefore, the aim of this study was to assess CMD in all three coronary vessels of MINOCA patients, relating it with the clinical subtype. METHODS We retrospectively assessed coronary microvascular function in all three coronary territories by means of angiography-based index of microvascular resistance (aIMR) in 92 patients (64 with working diagnosis of MINOCA, 28 control patients). To further assess the association of CMD with MINOCA subtypes, MINOCA patients were subdivided according to clinical data in coronary cause (n = 13), takotsubo (n = 13), infiltrative or inflammatory cardiomyopathy (n = 9) or unclear (n = 29). RESULTS Patients with working diagnosis of MINOCA showed a significantly elevated average aIMR compared to control patients (30.5 ± 7.6 vs. 22.1 ± 5.9, p < 0.001) as a marker of a relevant CMD; these data were consistent in all vessels. Among MINOCA subtypes, no significant difference in average aIMR could be detected between patients with coronary cause (33.2 ± 6.6), takotsubo cardiomyopathy (29.2 ± 6.9), infiltrative or inflammatory cardiomyopathy (28.1 ± 6.8) or unclear cause (30.6 ± 8.5; p = 0.412). Interestingly, aIMR was significantly elevated in the coronary vessel supplying the diseased myocardium compared with other vessels (31.9 ± 11.4 vs. 27.8 ± 8.2, p = 0.049). CONCLUSION Coronary microvascular dysfunction is a hallmark of all MINOCA subtypes. This study adds to the pathophysiological understanding of MINOCA and sheds light into the role of CMD in MINOCA.
Journal article
  • A. Milzi
  • R. Dettori
  • R. Lubberich
  • S. Reith
  • Kathrin Burgmaier
  • N. Marx
  • Mathias Burgmaier

Quantitative Flow Ratio Is Feasible and Accurate Even at Lower Frame Acquisition Rate.

In: Circulation: Cardiovascular interventions vol. 16 pg. e013266

  • 17.10.2023 (2023)

DOI: 10.1161/CIRCINTERVENTIONS.123.013266

Journal article
  • Kathrin Burgmaier
  • I. Broekaert
  • M. Liebau

Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.

In: Advances in Kidney Disease and Health vol. 30 pg. 468-476

  • (2023)

DOI: 10.1053/j.akdh.2023.01.005

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Autosomal recessive polycystic kidney disease (ARPKD) is the rare and usually early-onset form of polycystic kidney disease with a typical clinical presentation of enlarged cystic kidneys and liver involvement with congenital hepatic fibrosis or Caroli syndrome. ARPKD remains a clinical challenge in pediatrics, frequently requiring continuous and long-term multidisciplinary treatment. In this review, we aim to give an overview over clinical aspects of ARPKD and recent developments in our understanding of disease progression, risk patterns, and treatment of ARPKD.
Journal article
  • A. Halawi
  • Kathrin Burgmaier
  • A. Buescher
  • et al.

Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies.

In: Kidney International Reports vol. 8 pg. 1449-1454

  • 13.04.2023 (2023)

DOI: 10.1016/j.ekir.2023.04.006

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Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic fibrocystic disorder of kidneys and liver, primarily caused by biallelic variants in the PKHD1 gene.1 Variants in multiple genes can result in ARPKD-mimicking phenocopies, including genes causing autosomal dominant polycystic kidney disease (ADPKD), HNF1B-nephropathy, or nephronophthisis.2 Clinical differentiation between ARPKD and ARPKD-mimicking phenocopies like severe very early-onset forms of ADPKD, HNF1B-related cystic kidney disease, or nephronophthisis may be difficult.1,3 ADPKD is mainly caused by variants in PKD1 or PKD2.1 Retrospective long-term follow-up of a large cohort of patients with very early-onset forms of ADPKD showed better kidney-related outcomes in adolescence than in children with ARPKD but children of this cohort did not necessarily show an initial ARPKD-like phenotype.4 HNF1B-related nephropathy has been associated with slowly progressing functional kidney impairment in most patients.5 Prognosis of nephronophthisis varies according to the underlying genetics.6 Here, we describe the clinical follow-up of well-described patients with the clinical diagnosis of ARPKD that were subsequently genetically diagnosed to suffer from another cystic kidney disease and were thus classified as phenocopies.
Journal article
  • M. Rammer
  • S. Rieger
  • E. Heger
  • S. Garbade
  • Kathrin Burgmaier
  • L. Benning
  • C. Speer
  • S. Habbig
  • S. Haumann

Humoral immune response and live-virus neutralization of the SARS-CoV-2 omicron (BA.1) variant after COVID-19 mRNA vaccination in children and young adults with chronic kidney disease. Stich, M.; Di Cristanziano, V.; Tönshoff, B.; Weber, L. T.; Dötsch, J.;.

In: Pediatric Nephrology vol. 38 pg. 1935-1948

  • (2023)

DOI: 10.1007/s00467-022-05806-9

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BACKGROUND Data on humoral immune response to standard COVID-19 vaccination are scarce in adolescent patients and lacking for children below 12 years of age with chronic kidney disease including kidney transplant recipients. METHODS We therefore investigated in this retrospective two-center study (DRKS00024668; registered 23.03.2021) the humoral immune response to a standard two-dose mRNA vaccine regimen in 123 CKD patients aged 5-30 years. A live-virus assay was used to assess the serum neutralizing activity against the SARS-CoV-2 omicron (BA.1) variant. RESULTS Children aged 5-11 years had a comparable rate and degree of immune response to adolescents despite lower vaccine doses (10 µg vs. 30 µg BNT162b2). Treatment with two (odds ratio 9.24) or three or more (odds ratio 17.07) immunosuppressants was an independent risk factor for nonresponse. The immune response differed significantly among three patient cohorts: 48 of 77 (62.3%) kidney transplant recipients, 21 of 26 (80.8%) patients on immunosuppressive therapy, and 19 of 20 (95.0%) patients with chronic kidney disease without immunosuppressive therapy responded. In the kidney transplant recipients, immunosuppressive regimens comprising mycophenolate mofetil, an eGFR of < 60 mL/min/1.73 m2, and female sex were independent risk factors for nonresponse. Two of 18 (11.1%) and 8 of 16 (50.0%) patients with an anti-S1-RBD IgG of 100-1411 and > 1411 BAU/mL, respectively, showed a neutralization activity against the omicron variant. CONCLUSION A standard mRNA vaccine regimen in immunosuppressed children and adolescents with kidney disease elicits an attenuated humoral immune response with effective live virus neutralization against the omicron variant in approximately 10% of the patients, underlying the need for omicron-adapted vaccination. A higher resolution version of the Graphical abstract is available as Supplementary information.
Lecture
  • Kathrin Burgmaier

Prädiktionsmodell für das Nierenüberleben bei Patienten mit autosomal-rezessiver polyzystischer Nierenerkrankung (ARPKD) zur Anwendung im Alter von 2 Lebensmonaten.

In: 54. Jahrestagung der Gesellschaft für Pädiatrische Nephrologie

Marburg

  • 05.05.2023 (2023)
Lecture
  • Kathrin Burgmaier

Genotyp-Phänotyp-Korrelation in ARPKD - Daten aus dem ARegPKD Consortium. Eingeladener Vortrag.

In: 15. Jahrestagung der Deutschen Gesellschaft für Nephrologie

Berlin

  • 06.10.2023 (2023)
Journal article
  • A. Milzi
  • A. Landi
  • R. Dettori
  • Kathrin Burgmaier
  • S. Reith
  • Mathias Burgmaier

Multimodal Intravascular Imaging of the Vulnerable Coronary Plaque.

In: Echocardiography vol. 41

  • (2024)

DOI: 10.1111/echo.70035

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Vulnerable coronary plaques are atherosclerotic lesions which, due to their specific phenotype, are prone to plaque rupture and to cause acute coronary syndromes, with subsequent relevant morbidity and mortality. Strategies to break the chain link between plaque vulnerability and adverse clinical events include optimized pharmacologic prevention and potentially also preemptive percutaneous coronary interventions (previously defined as "plaque sealing" or "plaque passivation"). Various morphologic features of the vulnerable plaques have been described, including aspects regarding the large necrotic lipid content, the thin fibrous cap, the presence and extent of the presence of calcifications with small size and calcification angle, and as well as the large macrophage infiltration within the plaque. The detection of these features of plaque vulnerability is possible with intravascular imaging modalities such as intravascular ultrasound (IVUS), near-infrared spectroscopy (NIRS), and optical coherence tomography (OCT). This review explores the peculiarities of these three imaging modalities for the detection of vulnerable coronary plaque features.
Journal article
  • M. Kołbuc
  • M. Kołek
  • R. Motyka
  • B. Bieniaś
  • S. Habbig
  • Kathrin Burgmaier
  • L. Prikhodina
  • S. Papizh
  • V. Tasic
  • C. Okorn
  • M. Szczepańska
  • K. Kiliś-Pstrusińska
  • et al.

Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.

In: Pediatric Nephrology vol. 39 pg. 1847-1858

  • 10.01.2024 (2024)

DOI: 10.1007/s00467-023-06262-9

show abstract

BACKGROUND We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT). METHODS The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%). A random forest model was constructed to predict HNF1B mutations. The recursive feature elimination algorithm was used for feature selection for the model, and receiver operating characteristic curve statistics was used to verify its predictive effect. RESULTS A total of 213 patients were analyzed, including HNF1B-positive (mut + , n = 109) and HNF1B-negative (mut - , n = 104) subjects. The majority of patients had mild chronic kidney disease. Kidney phenotype was similar between groups, but bilateral kidney anomalies were more frequent in the mut + group. Hypomagnesemia and hypermagnesuria were the most common abnormalities in mut + patients and were highly selective of HNF1B. Hypomagnesemia based on age-appropriate norms had a better discriminatory value than the age-independent cutoff of 0.7 mmol/l. Pancreatic anomalies were almost exclusively found in mut + patients. No subjects had hypokalemia; the mean serum potassium level was lower in the HNF1B cohort. The abovementioned, discriminative parameters were selected for the model, which showed a good performance (area under the curve: 0.85; sensitivity of 93.67%, specificity of 73.57%). A corresponding calculator was developed for use and validation. CONCLUSIONS This study developed a simple tool for predicting HNF1B mutations in children and young adults with CAKUT.
Contribution
  • Kathrin Burgmaier
  • C. Gimpel
  • F. Schaefer
  • M. Liebau

No general treatment recommendation for nephrectomy in prenatal suspicion of ARPKD (2024, April 4).

In: GeneReviews® [Internet].

  • Eds.:
  • A. Amemiya
  • J. Feldmann
  • S. Wallace
  • M. Adam
  • R. Pagon
  • G. Mirzaa

University of Washington Seattle, WA, USA

  • (2024)
Journal article
  • Z. Cosgun
  • Kathrin Burgmaier
  • Zeiher, M:, Weber, A.
  • R. Klein
  • A. Aydin
  • A. Kribs
  • K. Mehler
  • S. Habbig

Urinary Output of Very Low Birth Weight Infants during the First Weeks of Life.

In: Neonatology pg. 1-7

  • 30.11.2024 (2024)

DOI: 10.1159/000542755

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INTRODUCTION Daily urinary output (UOP) serves as important tool to identify acute kidney injury (AKI) in preterm infants. However, reference values for UOP, especially stratified for gestational age (GA), are missing. METHODS This retrospective single-center study assessed UOP during the first 28 days of life in 128 very low birth weight (VLBW) infants. RESULTS VLBW infants exhibit a highly dynamic daily UOP profile in the first 28 days of life with a maximum at day 12 with 4.78 mL/kg bodyweight/h. In the subcohort of 64 extremely low gestational age neonates (ELGANs), the highest UOP is measured during the second week of life. Infants born before 24 weeks of gestation have significantly higher UOP than more mature infants. CONCLUSION UOP is dynamic in the postnatal period and differs significantly between GA cohorts in the subgroup of ELGANs. These data might point to an adaption of the UOP threshold for neonatal AKI in preterm infants.
Journal article
  • Kathrin Burgmaier
  • M. Zeiher
  • A. Weber
  • Z. Cosgun
  • A. Aydin
  • B. Kuehne
  • Mathias Burgmaier
  • M. Hellmich
  • K. Mehler
  • A. Kribs
  • S. Habbig

Low incidence of acute kidney injury in VLBW infants with restrictive use of mechanical ventilation.

In: Pediatric Nephrology vol. 39 pg. 1279-1288

  • 13.11.2023 (2024)

DOI: 10.1007/s00467-023-06182-8

show abstract

BACKGROUND We assessed the incidence of and risk factors for acute kidney injury (AKI) in very low birthweight infants (VLBW) in a center with a specific neonatal management protocol focusing on avoidance of early mechanical ventilation (MV). METHODS This retrospective single center analysis includes 128 infants born in 2020 with a gestational age ≥ 22 weeks who were screened for AKI using the nKDIGO criteria. RESULTS AKI was identified in 25/128 patients (19.5%) with eight of them (6.3%) presenting with severe AKI. Low gestational age, birthweight and 10-minute Apgar score as well as high CRIB-1 score were all associated with incidence of AKI. Forty-five percent of the infants with MV developed AKI vs. 8.9% of those without MV (p < 0.001). Early onset of MV and administration of more than 3 dosages of NSAIDs for patent duct were identified as independent risk factors for AKI in a logistic regression analysis. CONCLUSIONS We report a substantially lower frequency of AKI in VLBW infants as compared to previous studies, along with a very low rate of MV. A neonatal protocol focusing on avoidance of MV within the first days of life may be a key factor to decrease the risk of AKI in immature infants. A higher resolution version of the Graphical abstract is available as Supplementary information.
Contribution
  • Kathrin Burgmaier
  • C. Gimpel
  • F. Schaefer
  • M. Liebau

Autosomal Recessive Polycystic Kidney Disease - PKHD1.

In: GeneReviews® [Internet].

  • Eds.:
  • A. Amemiya
  • J. Feldmann
  • S. Wallace
  • M. Adam
  • R. Pagon
  • G. Mirzaa

University of Washington Seattle, WA, USA

  • (2024)
Journal article
  • R. Dettori
  • A. Milzi
  • R. Lubberich
  • Kathrin Burgmaier
  • S. Reith
  • N. Marx
  • M. Frick
  • Mathias Burgmaier

Chronic kidney disease is related to impaired left ventricular strain as assessed by cardiac magnetic resonance imaging in patients with ischemic cardiomyopathy.

In: Clinical Research in Cardiology: Official Journal of the German Cardiac Society vol. 113 pg. 1544-1554

  • 11.12.2023 (2024)

DOI: 10.1007/s00392-023-02346-6

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INTRODUCTION Chronic kidney disease (CKD) is an important cardiovascular risk factor. However, the relationship between CKD and myocardial strain as a parameter of myocardial function is still incompletely understood, particularly in patients with ischemic cardiomyopathy (ICM). Cardiac magnetic resonance imaging (CMR) feature tracking allows to analyze myocardial strain with high reproducibility. Therefore, the aim of the present study was to assess the relationship between CKD and myocardial strain as described by CMR in patients with ICM. METHODS We retrospectively performed CMR-based myocardial strain analysis in 89 patients with ICM and different stages of CKD, classified according to the KDIGO stages. In all patients, global longitudinal strain (GLS), global circumferential strain (GCS) and global radial strain (GRS) analysis of left ventricular myocardium were performed. Furthermore, segmental longitudinal (SLS), circumferential (SCS) and radial strain (SRS) according to the AHA 16/17-segment model was determined. RESULTS Creatinine levels (GLS: r = 0.46, p < 0.001; GCS: r = 0.34, p = 0.001; GRS: r = - 0.4, p < 0.001), urea levels (GLS: r = 0.34, p = 0.001; GCS: r = 0.30, p = 0.005; GRS: r = - 0.31, p = 0.003) as well as estimated glomerular filtration rate (GLS: r = -0.40, p < 0.001; GCS: r = - 0.27, p = 0.012; GRS r = 0.34, p < 0.001) were significantly associated with global strains as determined by CMR. To further investigate the relationship between CKD and myocardial dysfunction, segmental strain analysis was performed: SLS was progressively impaired with increasing severity of CKD (KDIGO-1: - 11.93 ± 0.34; KDIGO-5: - 7.99 ± 0.38; p < 0.001 for KDIGO-5 vs. KDIGO-1; similar data for SCS and SRS). Interestingly, myocardial strain was impaired with CKD in both segments with and without scarring. Furthermore, in a multivariable analysis, eGFR was independently associated with GLS following adjustment for LV-EF, scar burden, diabetes, hypertension, age, gender, LV mass or LV mass index. CONCLUSION CKD is related to impaired LV strain as assessed by CMR in patients with ICM. In our cohort, this relationship is independent of LV-EF, the extent of myocardial scarring, diabetes, hypertension, age, gender, LV mass or LV mass index.
Journal article
  • M. Dahmer-Heath
  • J. Gerß
  • D. Fliser
  • M. Liebau
  • T. Speer
  • A.-K. Telgmann
  • Kathrin Burgmaier
  • P. Pennekamp
  • L. Pape
  • F. Schaefer
  • M. Konrad
  • J. König

Urinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies.

In: Kidney International Reports vol. 10 pg. 197-208

  • 10.10.2024 (2024)

DOI: 10.1016/j.ekir.2024.09.023

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INTRODUCTION Phenotypic heterogeneity and unpredictability of individual disease progression present enormous challenges in ultrarare renal ciliopathies. The tubular-derived glycoprotein, Dickkopf-related protein 3 (DKK3) is a promising biomarker for kidney fibrosis and prediction of kidney function decline. Here, we measured urinary DKK3 (uDKK3) levels in 195 pediatric patients with renal ciliopathy to assess its potential as a discriminative and prediction marker. METHODS uDKK3 concentration was measured in 357 spot urine samples from 247 individuals, including 52 healthy age-matched controls. Disease entities comprised nephronophthisis (NPH) (n = 37), autosomal recessive polycystic kidney disease (ARPKD) (n = 61), Bardet Biedl syndrome (BBS) (n = 57), and hepatocyte nuclear factor 1 beta (HNF1B)-nephropathy (n = 40). The results were correlated with chronic kidney disease (CKD) stage and annual estimated glomerular filtration rate (eGFR) decline. RESULTS Median uDKK3-to-creatinine ratios (uDKK3/crea) in all disease entities were significantly higher compared with healthy controls (11pg/mg uDKK3/crea, P < 0.001): NPH, 1.219 pg/mg; HNF1B, 731 pg/mg; BBS, 541 pg/mg; and ARPKD, 437 pg/mg. A significant correlation of CKD stage with uDKK3 levels was observed for all disease entities (P < 0.0001) with no other clinical parameter having a relevant impact. In our cohort, uDKK3 values >4.700 pg/mg were associated with a significantly greater annual eGFR loss independently of diagnosis and eGFR (P = 0.0029). Although we observed a trend toward lower uDKK3 levels in glomerulopathies compared to renal ciliopathies, there was no discriminative difference between individual ciliopathy entities (P = 0.2637). CONCLUSION In renal ciliopathies, uDKK3 is a marker to assess disease severity and estimate short-term kidney function decline.