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Experimental pediatric nephrology

Research in renal diseases in children has a long tradition at and a special importance for the Marburg Center for Pediatric and Adolescent Medicine. The focus is on the science of rare diseases of the glomerulus and tubular system of the kidney. We are primarily concerned with the molecular genetics and pathophysiology of congenital salt wasting diseases. 

The Department of Pediatric Nephrology and Transplant Nephrology participates in German, European, and international studies and registries (INTENT, NEOCYST and others) with support from the Society of Pediatric Nephrology (GPN) (GER), the European Society of Pediatric Nephrology (ESPN), and the German Federal Ministry of Health and Research (BMBF)(GER). As a study center, we also manage the European Registry of Familiar CAKUT Cases (EURECA). We also participate in the CERTAIN register (Cooperative European Paediatric Renal Transplant Initiative). 

Research priorities

The focus is on the science of rare diseases of the glomerulus and tubular system of the kidneys. We are primarily concerned with the molecular genetics and pathophysiology of congenital salt wasting diseases:

  • Bartter syndrome
  • Transient Bartter syndrome
  • Gitelman syndrome
  • Magnesium deficiency disorders

In addition, the genetics of proteinuric diseases of childhood such as steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis and diseases of the complement system are the focus of our research interest.

Methodologically, cellular biology and molecular genetics approaches are applied in our laboratory, including new sequencing methods (WGS, WES).

In the context of various clinical pictures, we are particularly concerned with research into ion channels. 

Our research projects at a glance

Selected publications

  • Prof. Dr. med. Martin Kömhoff

    1. Seaayfan E., Shaukat, I., D. Bakhos-Douaihy, Y. Zhu, S. Demaretz, N. Frachon, S. Weber, M. Kömhoff, R. Vargas-Poussou and K. Laghmani (2021). "New insights into the role of endoplasmic reticulum-associated degradation in Bartter Syndrome Type 1." Hum Mutat. 

    2. Bakhos-Douaihy, D., E. Seaayfan, S. Demaretz, K. Laghmani and M. Kömhoff (2021). "Differential Effects of STCH and Stress-Inducible Hsp70 on the Stability and Maturation of NKCC2." International Journal of Molecular Sciences 22(4).

    3. Viering, D., K.-P. Schlingmann, M. Hureaux, T. Nijenhuis, A. Mallett, M. Chan, A. van Beek, A. van Eerde, J.-M. Coulibaly, M. Vallet, S. Decramer, S. Pelletier, G. Klaus, M. Kömhoff, R. Beetz, C. Patel, M. Shenoy, E. Steenbergen, G. Anderson, E. Bongers, C. Bergmann, D. Panneman, R. Rodenburg, R. Kleta, P. Houillier, M. Konrad, R. Vargas-Poussou, N. Knoers, D. Bockenhauer and J. de Baaij (2021). "Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA." Journal of the American Society of Nephrology: ASN.2021050596.

    4. Demaretz S, Seaayfan E, Bakhos-Douaihy D, Frachon N, Kömhoff M, Laghmani K. (2021). Golgi Alpha1,2-Mannosidase IA Promotes Efficient Endoplasmic Reticulum-Associated Degradation of NKCC2. Cells29;11(1):101.

    5. Arthuis, C. J., M. Nizon, M. Kömhoff, B. B. Beck, V. Riehmer, T. Bihouee, A. Bruel, N. Benbrik, N. Winer and B. Isidor (2018). "A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant." J Obstet Gynaecol: 1-3.

    6. M. Kömhoff and K. Laghmani (2018). "MAGED2: a novel form of antenatal Bartter's syndrome." Curr Opin Nephrol Hypertens 27(4): 323-328.

    7. Seaayfan, E., S. Nasrah, L. Quell, M. Kleim, S. Weber, H. Meyer, K. Laghmani and M. Kömhoff (2022). "MAGED2 Is Required under Hypoxia for cAMP Signaling by Inhibiting MDM2-Dependent Endocytosis of G-Alpha-S." Cells 11(16).

  • Prof. Dr. med. Stefanie Weber

    1. Devuyst O, Olinger E, Weber S, Eckardt KU, Kmoch S, Rampoldi L, Bleyer AJ. Autosomal dominant tubulointerstitial kidney disease. Nat Rev Dis Primers. 2019 Sep ;5(1):60.Review.

    2. Gimpel C,  2. Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber  S, Winyard PJD, Schaefer F. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol. 2019 Nov;15(11):713-726.

    3. Kolvenbach CM, Dworschak GC, Frese S, Japp AS, Schuster P, Wenzlitschke N,Yilmaz Ö, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause F,Schneider R, Taranta-Janusz K, Szczepańska M, Pawlaczyk K, Newman WG, Beaman GM, Stuart HM, Cervellione RM, Feitz WFJ, van Rooij IALM, Schreuder MF, Steffens M, Weber S, Merz WM, Feldkötter M, Hoppe B, Thiele H, Altmüller J, Berg C, Kristiansen G, Ludwig M, Reutter H, Woolf AS, Hildebrandt F, Grote P, Zaniew M, Odermatt B, Hilger AC. Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am J Hum Genet. 2019 May 2;104(5):994-1006

    4. Graupner O, Enzensberger C, Götte M, Wolter A, Müller V, Kawecki A, Weber S, Degenhardt J, Herrmann J, Axt-Fliedner R. Myocardial function in fetuses with lower urinary tract obstruction: Is there a cardiac remodeling effect due to renal damage? Prenat Diagn. 2019 Jun;39(7):495-504.               

    5. Burgmaier K, Kilian S, Bammens B, Benzing T, Billing H, Büscher A, Galiano M, Grundmann F, Klaus G, Mekahli D, Michel-Calemard L, Milosevski-Lomic G, Ranchin B, Sauerstein K, Schaefer S, Shroff R, Sterenborg R, Verbeeck S, Weber LT, Wicher D, Wühl E, Dötsch J, Schaefer F, Liebau MC. Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD). Sci Rep. 2019 May 28;9(1):7919

    6. Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ, Gardiner NJ, Chopra K, Coletta R, Bajwa Z, Hall RJ, Yue WW, Schaefer F, Weber S, Henriksson R, Stuart HM, Hedman H, Newman WG, Woolf AS. Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder. Kidney Int. 2019 May;95(5):1138-1152. 

    7. Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S. HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry. Pediatr Nephrol. 2019 Jun;34(6):1065-1075

    8. Frese S, Weigert A, Hoppe B, Feldkötter M, Ludwig M, Weber S, Kiliś-Pstrusińska K, Zaniew M, Reutter H, Hilger AC. A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review. Low Urin Tract Symptoms. 2019 Apr;11(2):O85-O88.

    9. Gimpel C, Avni FE, Bergmann C, Cetiner M, Habbig S, Haffner D, König J, Konrad M, Liebau MC, Pape L, Rellensmann G, Titieni A, von Kaisenberg C, Weber S, Winyard PJD, Schaefer F. Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews. JAMA Pediatr. 2018 Jan 1;172(1):74-86

    10. Yalcinkaya F, Bonthuis M, Erdogan BD, van Stralen KJ, Baiko S, Chehade H, Maxwell H, Montini G, Rönnholm K, Sørensen SS, Ulinski T, Verrina E, Weber S, Harambat J, Schaefer F, Jager KJ, Groothoff JW. Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry. Pediatr Nephrol. 2018 Jan;33(1):117-124.

    11. Büscher AK, Celebi N, Hoyer PF, Klein HG, Weber S, Hoefele J. Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis. Pediatr Nephrol. 2018 Mar; 33(3):433 437

    12. Montini G, Busutti M, Yalcinkaya F, Woolf AS, Weber S; European Society for Paediatric Nephrology Working Group on Congenital Anomalies of the Kidney and Urinary Tract. A questionnaire survey of radiological diagnosis and management of renal dysplasia in children. J Nephrol. 2018 Feb;31(1):95-102.

  • Prof. Dr. med. Günther Klaus

    1. Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. J Clin Invest. 2020 Jan 2;130(1):335-344

    2. Burgmaier K, Kilian S, Bammens B, Benzing T, Billing H, Büscher A, Galiano M, Grundmann F, Klaus G, Mekahli D, Michel-Calemard L, Milosevski-Lomic G, Ranchin B, Sauerstein K, Schaefer S, Shroff R, Sterenborg R, Verbeeck S, Weber LT, Wicher D, Wühl E, Dötsch J, Schaefer F, Liebau MC. Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD). Sci Rep. 2019 May 28;9(1):7919.