General Pediatrics, Adolescent Medicine

Pediatric gastroenterology at the Center for Pediatrics covers the entire treatment spectrum for children and adolescents with stomach, bowel and liver symptoms and diseases. State-of-the-art endoscopy equipment is available for patients of all ages. One focus is the treatment of chronic inflammatory bowel disease, as well as other chronic illnesses such as celiac disease. An examination is especially advisable as a second opinion, to confirm a diagnosis and optimize treatment using the latest medicinal options.

• Every endoscopic technique is employed (over 500/year performed)
  – Gastroduodenal endoscopy (with intervention measures (hemostasis))
  – Colonoscopy
  – Percutaneous endoscopic gastrostomy (PEG)
  – Dilatation of stenoses
  – Ligation of esophageal varices
  
• Chronic inflammatory bowel disease
  – Diagnosis
  
  • Imaging (MRI and Contrast X-ray)
  • Endoscopy with biopsy
  • Laboratory analysis
  
  – Nutritional therapy
  – Medicinal therapy, especially during relapse
  – Treatment for chronic constipation
  
• Liver disease
  – Diagnosis (biopsy, genetics, laboratory diagnostics)
  – Treatment (e.g. Hepatitis C)
  – Care of chronic liver disease (portal hypertension)

The allergology/pulmonology and cystic fibrosis team covers the care of the entire spectrum of congenital or acquired diseases in this field. Every diagnostic option is available. An examination is especially advisable in cases of enigmatic lung diseases. Another focus is insecticide diagnostics and immunotherapy.

Patients can also come for allergy and asthma follow-up examinations. Polysomnography makes it possible to assess gas exchange disorders during sleep. In cases of severe gas exchange disorders, home mechanical ventilation (HMV) can be initiated and monitored.

Diagnostic options:

• Cystic fibrosis (certified center)
• Allergy testing
• Whole-body plethysmography
• Bronchoscopy
• Diffusion measurement
• Treadmill, methacholine challenge testing
• Nitrogen monoxide measurement
• Ussing chamber for cystic fibrosis diagnosis
• Cilia diagnostics
• Lung clearance index (LCI)
• Polysomnography and home mechanical ventilation monitoring

The team led by Prof. Dr. Schwab and Dr. van der Werf-Grohmann treats patients with a variety of endocrine diseases, especially short stature or delayed puberty (diagnosis and treatment, follow-up), lipometabolic disorders, thyroid diseases (diagnosis and treatment, follow-up) and obesity. Another focus is optimizing diabetes treatment through appropriate check-ups and counseling, and the latest insulin pump provision options (prevention of late complications).

Inborn errors of metabolism

A large group is working on the diagnosis and treatment of congenital metabolic disorders. Especially in infants with non-specific organ diseases, the possibility of congenital metabolic disorders must be considered.

Genetic and biochemical analysis, for example:

• MCAD, LCHAD/MTP carnitine transporter deficiency
• VLCAD, CPT I, CACT (carnitine acylcarnitine carrier/translocase)
• SCAD, CPT II, ETFA/ETFB/ETFDH (Multiple acyl-CoA dehydrogenase deficiency)
• Acylcarnitines and free carnitine (serum/plasma, urine)
• Adenosine deaminase (ADA) activity in erythrocytes (EDTA blood)
• Amino acid quality (urine, serum)

Sending a patient's blood/serum/urine for diagnosis before an examination is advisable.

Prof. Hufnagel is a pediatric rheumatologist specializing in the diagnosis and treatment of childhood rheumatic diseases. Targeted treatment is only possible through accurate diagnosis of a specific rheumatologic disease. Treatment with modern biological agents requires regular checks of the effect and assimilation of the medication.

Another focus is recurrent fever syndromes, which today are exactly classifiable and for which there are several therapeutic options.

As an infectiologist, Prof. Hufnagel oversees all childhood infectious diseases. His special interests include chronic infections such as those of the bones and joints, tuberculosis and atypical mycobacteriosis. Moreover, he offers advice on vaccinations of all kinds, including travel vaccinations.

• Rheumatologist/Infectiologist/vaccinations
• Inflammatory joint and bone diseases
  – e.g. Borrelia arthritis, juvenile idiopathic arthritis, incl. psoriatic arthritis, chronic non-bacterial osteomyelitis
• Inflammation of blood vessels (vasculitis)
• Inflammation of skin or connective tissue
  – Connective tissue diseases, systemic lupus erythematosus, juvenile dermatomyositis
• Internal inflammation of the eye (uveitis)
• Relapsing fever syndromes
  – e.g. Familial Mediterranean fever
• Rare chronic infections
– e.g. Tuberculosis, non-tuberculous mycobacteria
• Vaccination advice, incl. travel vaccinations

This department is a center for special genetic bone diseases such as osteogenesis imperfecta or achondroplasia, metabolic bone diseases and rare skeletal dysplasias. Both clinical and genetic diagnosis are offered.

It is possible to send X-ray images for assessment, then subsequently a targeted genetic examination and patient examination can be carried out.

The Center is involved in international skeletal dysplasia networks.

Inherited metabolic disorders are rare, monogenic diseases caused by mutations in genes of carbohydrate, fatty acid and amino acid metabolism or important co-factors. To date, more than 1880 diseases have been identified. The number is constantly growing.

Clinical symptoms may affect all organs of the body or may be rather unspecific and chronic. Patients may present with failure to thrive, developmental delay, cardiomyopathy or metabolic crisis and coma. Inherited metabolic disorders can occur at any age.

The Metabolic Center Freiburg has an outstanding expertise in the diagnosis and treatment of patients with inherited metabolic disorders on an inpatient and outpatient basis. Our Center is certified by the European Board of Pediatrics. The team is multidisciplinary and includes pediatricians, dieticians, geneticists, psychologists, social workers and biochemists. Other specialists from other pediatric subspecialties can be involved at any time. Intensive care treatment is available.

Diagnosis can be made through newborn screening or clinical presentation. Treatment options comprise dietary modifications, pharmacological treatment, enzyme replacement therapy. Sometimes organ transplantion is recommended. Our center participates in a number of clinical treatment studies including gene therapy trials.

The Metabolic Center also includes a specialized biochemical and genetic laboratory that offers a wide range of biochemical, enzymatic and genetic analyses.

We offer diagnostic work-up for patients with suspected metabolic disease and an unclear diagnosis.

We also follow patients with known metabolic disorders. Our area of diagnostic and clinical expertise includes:

• Amino acid disorders
• Disorders of carbohydrate metabolism
• Disorders of carnitine metabolism
• Disorders of cholesterol metabolism
• Congenital disorders of glycosylation
• Disorders of creatine biosynthesis
• Fatty acid oxidation disorders
• Homocystinuria
• Disorders of ketogenesis and ketolysis
• Lysosomal disorders
• Methylation defects
• Mitochondrial diseases
• Organic acidurias
• Peroxisomal disorders
• Disorders of purine and pyrimidine metabolism
• Urea cycle defects
• Other rare metabolic defects