SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases

Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg

Description of facility

Head of Institution
Prof. Dr. Ute Spiekerkötter
Information
Care facility for children
Description

Die Klinik für Allgemeine Kinder- und Jugendmedizin ist Ihr Partner für die Behandlung verschiedenster Krankheiten des Kindes- und Jugendalters - sei es im akuten Notfall 24 Stunden am Tag und 365 Tage im Jahr, sei es mit einer chronischen Krankheit oder unklaren Beschwerden, bei denen bisher keine Diagnose gestellt werden konnte.

Die Klinik bietet eine kindgerechte Versorgung nach modernsten medizinischen Erkenntnissen mit möglichst kurzer stationärer Verweildauer sowie tragfähigen Strukturen für die tagesstationäre und ambulante Weiterbetreuung. Hier werden Patienten ganzheitlich zusammen mit den Eltern und mit einem Team aus ÄrztInnen, KinderkrankenpflegerInnen, PsychologInnen und PädagogInnen betreut.

Zusammen mit der Frauenklinik betreut die Klinik für Allgemeine Kinder- und Jugendmedizin im Perinatalzentrum werdende Mütter und Kinder vor der Geburt und in der Neugeborenenperiode.

Um Krankheiten besser zu verstehen und bestmöglich zu behandeln, ist eine enge Verbindung zur Forschung notwendig. Daher partizipiert die Klinik auch aktiv an der Erforschung grundlegender Mechanismen von Krankheiten und neuer Therapien in verschiedenen Spezialbereichen.

Care provisions

This facility offers the following
  • Social / legal advice
  • Genetic counselling
  • Clinical studies / research
  • Diagnostic
  • Therapy
  • Contact person for patients with an unclear diagnosis
  • Contact with support groups

    Hilfe für nierenkranke Kinder und Jugendliche e.V.

Contact

Sekretariat
0761 27043000
0761 27044490
Website https://www.uniklinik-freiburg.de/kinderklinik/behandlungsspektrum/default-8cf21c30f3.html

Address

Mathildenstraße 1
79106 Freiburg
Anfahrt: Heiliggeiststraße 1

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Languages

Germany.png Deutsch
United_Kingdom.png Englisch

Certificates 3

European Reference Network 1

Mentioned by the following facilities 1

Preview of the assigned diseases 15

Syndromic renal or urinary tract malformation Methylcobalamin deficiency type cblG Oculocerebrorenal syndrome of Lowe Sebastian syndrome HANAC syndrome Familial steroid-resistant nephrotic syndrome with sensorineural deafness Osteofibrous dysplasia X-linked Alport syndrome Mixed connective tissue disease AApoAII amyloidosis Familial hyperaldosteronism type I Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Hypocomplementemic urticarial vasculitis Ciliopathies with major skeletal involvement AFib amyloidosis Smith-Lemli-Opitz syndrome Hypertension due to gain-of-function mutations in the mineralocorticoid receptor Dense deposit disease Spondylodysplastic dysplasia Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome Mesomelic and rhizo-mesomelic dysplasia Tyrosinemia type 2 Transient pseudohypoaldosteronism Secondary vasculitis Pseudohypoaldosteronism type 2B Thrombotic microangiopathy Vasculitis due to ADA2 deficiency Primary bone dysplasia with multiple joint dislocations Idiopathic hypercalciuria Primary bone dysplasia with increased bone density Reactive arthritis Congenital nephrotic syndrome, Finnish type Hereditary pheochromocytoma-paraganglioma Shiga toxin-associated hemolytic uremic syndrome Carnitine palmitoyltransferase II deficiency Renal pseudohypoaldosteronism type 1 Genetic cystic renal disease 2p21 microdeletion syndrome Primary bone dysplasia with disorganized development of skeletal components Systemic primary carnitine deficiency Congenital bilateral megacalycosis Primary osteolysis Rare hyperlipidemia Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Dominant hypophosphatemia with nephrolithiasis or osteoporosis Tyrosinemia type 3 Infantile nephronophthisis Acquired monoclonal Ig light chain-associated Fanconi syndrome Renal tubular dysgenesis May-Hegglin thrombocytopenia Bartter syndrome type 3 Apparent mineralocorticoid excess Idiopathic steroid-sensitive nephrotic syndrome Brachydactyly-arterial hypertension syndrome Autosomal recessive polycystic kidney disease Polyarticular juvenile idiopathic arthritis Cystinuria type B Rare systemic or rheumatological disease of childhood Bartter syndrome type 4 Psoriasis-related juvenile idiopathic arthritis Disorder of fatty acid oxidation and ketogenesis X-linked Alport syndrome-diffuse leiomyomatosis Alport syndrome Pseudohypoaldosteronism type 2E Mitochondrial trifunctional protein deficiency Pseudohypoaldosteronism type 1 Adult familial nephronophthisis-spastic quadriparesia syndrome Cystinosis Renal hypoplasia Posterior urethral valve Tubulointerstitial nephritis and uveitis syndrome Liddle syndrome Disorder of purine or pyrimidine metabolism Congenital primary megaureter, obstructed form Nail-patella-like renal disease Senior-Loken syndrome Renal tubular dysgenesis due to twin-twin transfusion Renal tubular dysgenesis of genetic origin Bartter syndrome Fibronectin glomerulopathy Ochoa syndrome Carnitine-acylcarnitine translocase deficiency Megacystis-microcolon-intestinal hypoperistalsis syndrome Multiple epiphyseal dysplasia and pseudoachondroplasia Bartter syndrome with hypocalcemia Slender bone dysplasia Joubert syndrome with oculorenal defect Rare infectious disease LAMB2-related infantile-onset nephrotic syndrome Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Von Hippel-Lindau disease Pseudohypoparathyroidism type 1B Atypical hemolytic uremic syndrome with anti-factor H antibodies Prune belly syndrome Systemic-onset juvenile idiopathic arthritis Distal renal tubular acidosis with anemia Cystinuria type A Renal dysplasia Dent disease type 2 Renal coloboma syndrome Pauci-immune glomerulonephritis Adrenocortical carcinoma Renal hypoplasia, unilateral Atypical hemolytic uremic syndrome Lipoprotein glomerulopathy Tuberous sclerosis complex Pediatric systemic lupus erythematosus Primary hyperoxaluria Congenital primary megaureter, nonrefluxing and unobstructed form Unilateral multicystic dysplastic kidney Renal hypoplasia, bilateral Bilateral multicystic dysplastic kidney Primary membranoproliferative glomerulonephritis Senior-Boichis syndrome Collagen type III glomerulopathy Idiopathic nephrotic syndrome Sporadic pheochromocytoma/secreting paraganglioma Genetic steroid-resistant nephrotic syndrome Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement Multiple acyl-CoA dehydrogenase deficiency Very long chain acyl-CoA dehydrogenase deficiency Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome RHYNS syndrome Phenylketonuria Multiple paragangliomas associated with polycythemia Oligomeganephronia Cystinuria Nephrogenic diabetes insipidus Osteopetrosis with renal tubular acidosis Pseudoxanthoma elasticum Multiple metaphyseal dysplasia Acromelic dysplasia Campomelic dysplasia and related disorders Chondrodysplasia punctata Primary bone dysplasia with decreased bone density Cleidocranial dysplasia and isolated cranial ossification defect Congenital and infantile nephrotic syndrome Lethal chondrodysplasia Primary membranous glomerulonephritis Medullary sponge kidney Rare pediatric vasculitis Pseudohypoparathyroidism Disorder of urea cycle metabolism and ammonia detoxification Frasier syndrome Galactosemia Glycogen storage disease Gitelman syndrome Renal or urinary tract malformation Non-syndromic renal or urinary tract malformation ALys amyloidosis AApoAI amyloidosis Immune-mediated thrombotic thrombocytopenic purpura Late-onset nephronophthisis Xanthinuria type I Rare renal tubular disease Oligoarticular juvenile idiopathic arthritis Xanthinuria type II Nephrogenic syndrome of inappropriate antidiuresis Cystic fibrosis Pseudopseudohypoparathyroidism Pseudohypoparathyroidism type 1C Congenital primary megaureter Pierson syndrome Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Denys-Drash syndrome Autosomal dominant primary hypomagnesemia with hypocalciuria Rare inborn errors of metabolism Nail-patella syndrome Peroxisomal disease Thrombotic thrombocytopenic purpura Hypotonia-cystinuria syndrome Action myoclonus-renal failure syndrome Tyrosinemia type 1 Disorder of carnitine cycle and carnitine transport Autosomal recessive distal renal tubular acidosis without deafness Autosomal recessive distal renal tubular acidosis with deafness Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization Rare genetic cause of hypertension NPHP3-related Meckel-like syndrome Pontocerebellar hypoplasia type 2 Urachal cyst Methylmalonic acidemia without homocystinuria Renal dysplasia, bilateral Otopalatodigital syndrome spectrum disorder Anti-neutrophil cytoplasmic antibody-associated vasculitis Primary bone dysplasia with micromelia Wilson disease Short stature-advanced bone age-early-onset osteoarthritis syndrome Atresia of urethra Dent disease Nephronophthisis Hemolytic uremic syndrome with DGKE deficiency Albright hereditary osteodystrophy Primary hypomagnesemia with secondary hypocalcemia Pseudohypoaldosteronism type 2 Acromesomelic dysplasia Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Primary bone dysplasia with defective bone mineralization Lysosomal disease MYH9-related disease Sporadic idiopathic steroid-resistant nephrotic syndrome Multicystic dysplastic kidney Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Anti-glomerular basement membrane disease Glutaric acidemia type 3 Hereditary renal hypouricemia Hereditary xanthinuria Congenital thrombotic thrombocytopenic purpura Juvenile nephronophthisis Familial hyperthyroidism due to mutations in TSH receptor Autosomal dominant distal renal tubular acidosis Overlapping connective tissue disease Congenital megacalycosis Hypotonia-cystinuria type 1 syndrome Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Fechtner syndrome Unclassified vasculitis Adenine phosphoribosyltransferase deficiency Pseudohypoaldosteronism type 2D Familial gestational hyperthyroidism Unilateral congenital megacalycosis Maple syrup urine disease Immunotactoid or fibrillary glomerulopathy Unspecified juvenile idiopathic arthritis Renal-hepatic-pancreatic dysplasia Autosomal dominant proximal renal tubular acidosis Drug-related renal tubular dysgenesis Renal agenesis, bilateral Congenital renal artery stenosis Renal dysplasia, unilateral Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Distal renal tubular acidosis Glutaryl-CoA dehydrogenase deficiency Proximal renal tubular acidosis Rare pediatric systemic disease Pseudohypoparathyroidism type 2 Primary hyperoxaluria type 2 Renal agenesis, unilateral Methylmalonic acidemia with homocystinuria Isovaleric acidemia Propionic acidemia Medium chain acyl-CoA dehydrogenase deficiency Megacystis-megaureter syndrome Primary megaureter, adult-onset form Congenital primary megaureter, refluxing form Galloway-Mowat syndrome Autosomal dominant progressive nephropathy with hypertension Pseudohypoparathyroidism type 1A Juvenile idiopathic arthritis Kosaki overgrowth syndrome Carnitine palmitoyl transferase 1A deficiency Isolated autosomal dominant hypomagnesemia, Glaudemans type Immunoglobulin-mediated membranoproliferative glomerulonephritis C3 glomerulopathy C3 glomerulonephritis Duplication of urethra Spondylometaphyseal dysplasia Primary Fanconi renotubular syndrome Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome Bickerstaff brainstem encephalitis Schimke immuno-osseous dysplasia Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Generalized pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2C Glomerular disease WAGR syndrome Primary hyperoxaluria type 1 Primary hyperoxaluria type 3 Autosomal recessive proximal renal tubular acidosis Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Rare cause of hypertension Dent disease type 1 Atypical hypotonia-cystinuria syndrome Rare renal disease Enthesitis-related juvenile idiopathic arthritis Primary renal tubular acidosis Hereditary amyloidosis with primary renal involvement Hereditary fructose intolerance Juvenile dermatomyositis Primary bone dysplasia Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Epstein syndrome

Provided care options 7

# Contact person
1
Ambulanz für pädiatrische Genetik
PD Dr. Ekkehart Lausch

0761 27043630
Email
Website
Sprechzeiten: Mo – Fr 9:00 - 16:00 nach Vereinbarung.

2
Spezialambulanz für seltene Nierenerkrankungen im Kindesalter
Dr. Martin Pohl

0761 27045350
Email
Website
Sprechzeiten: Mo – Fr 9:00 – 11:00 Uhr, Di 14:30 - 16:00 Uhr sowie nach Vereinbarung.
This consultation offers genetic counselling.

3
Ambulanz für Rheuma im Kindesalter
Prof. Dr. Markus Hufnagel

0761 27043011
Email
Website
Sprechzeiten nach Vereinbarung.

4
Ambulanz für Infektionskrankheiten, Infektanfälligkeit und Impffragen im Kindesalter
Prof. Dr. Philipp Henneke

0761 27043030
Website
Sprechzeiten: Mo 14:00 - 16:30 Uhr, Di 8:30 – 12:00 Uhr nach Vereinbarung.

5
Ambulanz für Morbus Wilson
PD Dr. Ulrike Teufel-Schäfer

0761 27043011
Sprechzeiten nach Vereinbarung.

6
Spezialambulanz für Mukoviszidose
Prof. Dr. Andrea Heinzmann

0761 27043030
Email
Website
Sprechzeiten: Do 13:30 - 16:30 Uhr nach Vereinbarung.

7
Tuberöse Sklerose-Zentrum Freiburg
Dr. med. Jan Schönberger, PD Dr. Thorsten Langer

0761 27043520
Email
Website
Sprechzeiten nach Vereinbarung.
This consultation offers genetic counselling.

7.84299373626709148.003612864001084Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Last updated: 06.11.2026