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“NephroGen” lab helps children with kidney disease all over the world

25.02.2010
Pediatricians in Heidelberg set up a special laboratory / Project financing from the Dietmar Hopp Foundation

 

 

[picture in higher resolution]

Little Ceylin suffers from a kidney disease of genetic origin

Source: Heidelberg University Hospital

 

 

Kidney disease often has a genetic cause. However, finding the correct diagnosis is often very difficult and can be made only in specialized laboratories. The section for pediatric nephrology at the Center for Pediatric and Youth Medicine at Heidelberg University Hospital (Division Chief: Professor Dr. Dr. Franz Schaefer) has recently established a highly qualified laboratory that conducts genetic analyses for numerous patients in Germany and abroad and has thus considerably improved diagnosis and consulting for affected families. Applications can be made, data collected, and information provided via two Internet portals. Since 2004, the Dietmar Hopp Foundation has funded the “NephroGen” project with 400,000 €.

 

“NephroGen” – central address for laboratory testing

 

Numerous genes that can cause kidney disease in children are already known. But this knowledge has not yet fully found its way to clinical routine diagnostics, as only a few laboratories offer these special tests and physicians often do not know who can examine which genes. A genetic analysis can take months and is not covered by all health insurers. Professor Schaefer established the “NephroGen” laboratory that offers diagnostics for the 15 genes currently considered most relevant  for children’s kidney disorders. For some of these genes, the laboratory in Heidelberg is the first and thus far only laboratory providing this service in Europe.

 

The demand is large: in addition to Germany, requests come from most European countries, the Middle East, and Latin America. Since 2005, more than 1,000 gene analyses have been carried out. Thus far, the examinations were made as part of  research projects and were thus free of charge for the patients. In 2010, the nephrogenetic services will be integrated into the diagnostic catalogue of the Institute for Human Genetics (Director: Professor Dr. Claus R. Bartram) and will be charged there.

 

Information and data for pediatric nephrology centers around the world

 

At the Internet portal www.nephrogen.org, online since 2006, physicians can obtain detailed information on the symptoms and request specific findings. Another Internet portal (www.podonet.org) has been in existence since 2009 and is already used by 50 pediatric nephrology centers in 19 countries. Here, in a project also funded by the Federal Ministry for Education and Research (BMBF) and the EU, genetic and clinical data is collected on what is known as the steroid resistant nephrotic syndrome (see below), an especially important, rare childhood kidney disease.

 

“The advantage of these extensive genetic diagnostics is partly that children can be spared ineffective and stressful therapy. In addition, the knowledge of a genetic cause for the disease can make a decisive difference in the prognosis. It is also important for the affected person and healthy siblings to know the risk of passing the disease on to the next generations,” explained Professor Schaefer. “One long-term goal of our examinations is of course to develop new, possibly causal therapies that can conserve renal function.” Unfortunately, most children with kidney diseases eventually will still require kidney replacement therapy, i.e. dialysis or kidney transplantation.

 

Patient history:

Little Ceylin is 18 months old. She has been suffering from severe fluid retention for some time. It was soon discovered that her kidneys lose a great deal of protein; this is known as a “nephrotic syndrome”. This disease usually stems from a disorder of the immune system and is treated with cortisone, sometimes with stronger drugs as well. The cortisone led to some side effects for Ceylin, but the kidney disease did not improve. The girl was sent to Heidelberg for further treatment.

 

In rare cases, a nephrotic syndrome can be caused by congenital genetic mutations in the kidneys. These mutations cannot be influenced by medication and lead to a progressive loss of renal function. The Heidelberger physicians soon discovered a genetic cause in Ceylin.

 

The bad news for Ceylin and her family is that she will need a kidney transplant in a few years. But at least it quickly became clear that cortisone and other drugs are ineffective for Ceylin and she could be spared the often serious side effects of this treatment. Thanks to the genetic diagnostics, a kidney biopsy was also unnecessary. Other good news was that the disease can be healed by transplanting a healthy kidney. In the cases that stem from a disorder of the immune system, the disease can recur in the transplanted kidney and destroy it. The pediatric nephrologists were able to give the family some good news thanks to the genetic diagnosis.

 

Scientific analyses of the clinical work of the “NephroGen” project have already been published in prominent international journals:

Hussein A, Askar E, Elsaeid M, Schaefer F. Functional polymorphisms in transforming growth factor-beta-1 (TGF?-1) and vascular endothelial growth factor (VEGF) genes modify risk of renal parenchymal scarring following childhood urinary tract infection. Nephrol Dial Transplant, 2009, Oct 26.

 

Tabatabaeifar M, Schlingmann K-P, Litwin M, Emre S, Bakkaloglu A, Mehls O, Antignac C, Schaefer F, Weber S, and the ESCAPE Trial Group. Functional analysis of BMP4 mutations identified in pediatric CAKUT patients. Pediatr Nephrol, 2009, 24: 2361-8.

 

Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: Results of the ESCAPE Study. J Am Soc Nephrol, 2006, 17: 2864–70

 

Please contact:

Prof. Dr. Dr.h.c. Franz Schaefer

Section Head for Pediatric Nephrology

Director Hemodialysis Center for Children and Youth

Center for Pediatric and Youth Medicine

Im Neuenheimer Feld 430

69120 Heidelberg

phone:   +49 6221/56 32 396

fax:   +49 6221 / 56 51 66

e-mail: franz.schaefer@med.uni-heidelberg.de

 

Dietmar Hopp Foundation:

The Dietmar Hopp Foundation was established in 1995 to facilitate the implementation of non-profit projects. The foundation assets consist of SAP shares Dietmar Hopp contributed from his private holdings. Since its establishment, the foundation, which is among the largest private foundations in Europe, has paid out a total of 230 million euros (as of January 2010). Projects in the sports, medicine, social, and educational areas are funded. The main support activities are in the Rhein-Neckar metropolitan area, to which the benefactor has especially close ties. The Dietmar Hopp Foundation is a member of the Bundesverband Deutscher Stiftungen and the Sportregion Rhein-Neckar e.V.

 

Dietmar Hopp Stiftung

Raiffeisenstraße 51

68789 St. Leon-Rot

T: +49 6227 8608550

F: +49 6227 8608571

info@dietmar-hopp-stiftung.de

www.dietmar-hopp-stiftung.de

 

Heidelberg University Hospital and Medical Faculty:

Internationally recognized patient care, research, and teaching 

Heidelberg University Hospital is one of the largest and most prestigious medical centers in Germany. The Medical Faculty of Heidelberg University belongs to the internationally most renowned biomedical research institutions in Europe. Both institutions have the common goal of developing new therapies and implementing them rapidly for patients. With about 7,600 employees, training and qualification is an important issue. Every year, around 550,000 patients are treated on an inpatient or outpatient basis in more than 40 clinics and departments with 2,000 beds. Currently, about 3,400 future physicians are studying in Heidelberg; the reform Heidelberg Curriculum Medicinale (HeiCuMed) is one of the top medical training programs in Germany.

 

Requests by journalists:

Dr. Annette Tuffs

Head of Public Relations and Press Department

University Hospital of Heidelberg and

Medical Faculty of Heidelberg

Im Neuenheimer Feld 672

D-69120 Heidelberg

Germany

phone:      +49 6221 / 56 45 36

fax:  +49 6221 / 56 45 44

e-mail: annette.tuffs(at)med.uni-heidelberg.de

 

 

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