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Tumor Diseases

• Pheochromozytoma/ Paraganglioma/ Head and Neck Paraganglioma
• Von Hippel-Lindau Disease
• Tuberous Sclerosis 
• Renal Cell Carcinoma
• Renal Angiomyolipoma
• Neuroendocrine Tumors
• Multiple Endocrine Neoplasia Typ 1+2

Inherited Kidney Diseases

• Polycystic Kidney Disease
• Hemolytic Uremic Syndrome
• Morbus Fabry
• Neurofibromatosis
• Nephronophtisis
• Alport-Disease

Pheochromozytoma/ Paraganglioma/Head and Neck Paraganglioma

Pheochromozytome are tumors of the vegetative nervous system, mostly in the adrenal gland.s. Pheochromocytoma can also be located in the abdomen or in the neck area (= glomus tumors), these are also called paraganglioma. The tumors secret stress-hormones (catecholamines) leading to headache, palpitations or sweating attacks. The therapy of choice is laparoscopic adrenal sparing surgery. The study group is working on this filed for more than 20 years now. The moleculargenetic analyses allow the classification  of these tumors to the pheochromocytoma-associated syndromes. These are: Multiple Endocrin Neoplasia (MEN type 2), Von Hippel-Lindau syndrome (VHL), and Paraganglioma Syndromes (SDHB, SDHC or SDHD). Based on this classification, the genetical predisposition for other tumors and the necessary preventive  follow-up investigations can be estimated (risk profile). 

In cooperation with other institutions in Germany, Europe and oversea, there exists an international registry for pheochromocytoma and paraganglioma-patients in Freiburg. This registry is also the basis for individual consultations.

Further Information:

Neumann HP (2005) Special Issue: Pheochromocytoma and Paraganglioma. Familial Cancer;4(1):11 Be
Neumann HP (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA;292(8):943-951
Neumann HP (2002) Germ-Line Mutations in Nonsyndromic Pheochromocytoma. NEJM;346:1459-1466

Von-Hippel-Lindau-Disease

Von-Hippel-Lindau-Syndrome (VHL) is inherited in an autosomal-dominant fashion, age of diagnosis is usually between the age of 20 and 40 years. Typical clinical features are: eyes (retinal angiomatosis), hemangioblastoma in the cerebellum, the brain stem or the spinal cord, renal cell carcinoma, pheochromocytoma, pancreatic islet cell tumors, endolymphatic sac tumors, tumors of the testicles or tumors of the broad ligaments. Early detection is essential for effective treatment. Therefore patients meed regular follow-up investigations. The detection of VHL-specific mutations allows to confimr the clinical diagnosis and to confirm or to exclude the disposition for the disease in relatives. 

The Von Hippel-Lindau Syndrome is a focus of interest for more than 20 years now. Diagnosis, treatment and scientific evaluation are done in cooperation with multiple other disciplines and colleagues of the University Hospital in Freiburg and other German hospitals. 

International Support Group  www.vhl.org

Tuberous Sclerosis

Tuberous Sclerosis is a multiorgan disease which mainly affects the skin, the central nervous system and the kidneys. The severity varies from case to case, some patients only have small lesions and appear healthy, other patients are intellectually handicapped,mentally retarded or have epileptic seizures.The principal renal lesions are so-called angiomyolipomas. These tumors are benign but have a tendency for spontaneous bleeding which can be life-threatening. One has to be careful though to take them out, because kidney-sparing surgery is not always succesful and after one-sided nephrectomy patients are at risk for prgressive renal failure and dialysis.

Tuberous Sclerosis is caused by a mutation in one of the following genes: TSC 1 or TSC 2. Both genes are unusually large. Moleculargenetical analyses of theses genes are not done in our research laboratory so far.

Further Information

Neumann HP (2005) Renal involvement in Tuberous Sclerosis Complex and von Hippel-Lindau Disease. Oxford Textbook of Clinical Nephrology. Oxford Press
Neumann HP (1998) Renal Angiomyolipomas, Cysts and Cancer in Tuberous Sclerosis Complex. Seminars in Pediatric Neurology;5:269-275

Polycystic Kidney Disease

Both kidneys can be completely disseminated by innumerable cysts. The kidneys are extremely enlarged and lose theri function. Renal cysts can cause symptoms directly at birth or later in life. The so-called polycystic kidney disease is mostly an iautosomal-dominant inherited  disorder which becomes manifest in adulthood (ADPKD). The disease appears in general in each generation of a family and often leads to endstage renal failure between the age of 35 and 55, i.e. the patient needs dialysis. Liver cysts and asymptomatic intracerebral aneurysms are the most frequent extrarenal manifestations. 

ADPKD is caused by a defect in one of 2 genes: PKD 1 or PKD 2. In our project we examine the epidemiology on a moleculargenetic basis. Other questions ar ethe rate of new mutations and the gene carrier status of related kidney donors.

Hemolytic-Uremic Syndrome

The Hemolytic Uremic Syndrome is a complex disease with a high risk for acute renal failure. Usually the subgroups "typical HUS" or atypical HUS" are used. The typical HUS is a pediatric disease and is caused by toxins secreted by a strain of Escherichia coli. 

Atypical HUS is associated with the use of drugs (oral contraceptives, Ticlopidin, Gemcitabin), specific diseases l(ike systemic lupus erythematosis), pregnancy or tumors. About 10-20% of all patients with atypical HUS have mutations in so-called complement-regulating genes. As far as known, the relevant complements are factor H, C4BP and factor I. The scientific project is done in a bilateral cooperation with Prof. Peter Zipfel at the University of Jena. The analyses of the mutations are carried out in Freiburg, the analyses of the protein function are carried out in Jena. 

Further Information

Neumann HP (2003) Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. Journal of Medical Genetics;40:676-81
Salzmann M (2006) Towards a New Classification of Haemolytic Uremic Syndrome in Complement and Kidney Diseases. in: Peter F. Zipfel Complement and Kidney Diseases. Birkhäuser Verlag Basel

Morbus Fabry

Morbus Fabry is caused by a defect of the galactosidase-controlled metabolism due to an inborn error. 

The a-galactosidase enzyme is not functioning adequatel, as a consequence metabolic products accumulate in various organs (heart, kidney, etc.) progressively. This leads to a variety of symptoms. The main clinical features are: Pain, mainly in the fingers and toes, heat intolerance and clearly reduced perspiration. Deposits in the kidney lead to dialysis, deposits in the blood vessels can lead to a stroke. 

Since 2001, there are 2 licensed enzyme replacement therapy drugs available. These are applied as an intravenous drip every 2 weeks. The therapy is extremely expensive and needs to be applied lifelong. Morbus Fabry is caused by a mutation in the a-galactosidase gene. Moleculargenetic analyses are done in our laboratory. 

Specialist for Morbus Fabry is Dr. M. Cybulla:  markus.cybulla@uniklinik-freiburg.de

Further Information
Cybulla M (2005) Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys. American Journal of Kidney Disorders;45(5):82-9 

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