SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases

Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg

Description of facility

Director / Spokesperson
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 14

C3 glomerulopathy Glomerular disease Albright hereditary osteodystrophy Syndromic renal or urinary tract malformation Secondary glomerular disease Anti-neutrophil cytoplasmic antibody-associated vasculitis Basement membrane disease Drug-related renal tubular dysgenesis Methylcobalamin deficiency type cblG Sebastian syndrome HANAC syndrome Oculocerebrorenal syndrome of Lowe 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 ALys amyloidosis Hypocomplementemic urticarial vasculitis AApoAI amyloidosis Ciliopathies with major skeletal involvement AFib amyloidosis Smith-Lemli-Opitz syndrome Multiple metaphyseal dysplasia C3 glomerulonephritis Hypertension due to gain-of-function mutations in the mineralocorticoid receptor Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Autosomal dominant progressive nephropathy with hypertension Acromelic dysplasia Dense deposit disease Congenital hydronephrosis Spondylodysplastic dysplasia Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome Mesomelic and rhizo-mesomelic dysplasia Tyrosinemia type 2 Transient pseudohypoaldosteronism Acromesomelic dysplasia Secondary vasculitis Pseudohypoaldosteronism type 2B Thrombotic microangiopathy Vasculitis due to ADA2 deficiency Atypical hemolytic uremic syndrome with MCP/CD46 anomaly Pseudohypoaldosteronism type 2A Campomelic dysplasia and related disorders Atypical hemolytic uremic syndrome with C3 anomaly Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome Chondrodysplasia punctata Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Primary bone dysplasia with multiple joint dislocations Pseudohypoaldosteronism type 2C Atypical hemolytic uremic syndrome with B factor anomaly Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement Familial hyperthyroidism due to mutations in TSH receptor Idiopathic hypercalciuria Atypical hemolytic uremic syndrome with I factor anomaly Dent disease Primary bone dysplasia with increased bone density Rapidly progressive glomerulonephritis Atypical hemolytic uremic syndrome with H factor anomaly Renal dysplasia, bilateral Congenital thrombotic thrombocytopenic purpura Primary bone dysplasia with decreased bone density Hypotonia-cystinuria syndrome Renal dysplasia, unilateral Distal renal tubular acidosis Sporadic pheochromocytoma Reactive arthritis Immune-mediated thrombotic thrombocytopenic purpura Galloway-Mowat syndrome Unilateral congenital megacalycosis Carnitine palmitoyl transferase 1A deficiency Genetic primary hypomagnesemia Familial primary hypomagnesemia with normocalciuria and normocalcemia Congenital nephrotic syndrome, Finnish type Hereditary pheochromocytoma-paraganglioma Shiga toxin-associated hemolytic uremic syndrome Carnitine palmitoyltransferase II deficiency Renal pseudohypoaldosteronism type 1 Atypical hemolytic uremic syndrome with thrombomodulin anomaly Adenine phosphoribosyltransferase deficiency Genetic cystic renal disease Cleidocranial dysplasia and isolated cranial ossification defect Primary bone dysplasia with disorganized development of skeletal components Generalized pseudohypoaldosteronism type 1 2p21 microdeletion syndrome UMOD-related autosomal dominant tubulointerstitial kidney disease Autosomal dominant primary hypomagnesemia with hypocalciuria Systemic primary carnitine deficiency Primary osteolysis MUC1-related autosomal dominant tubulointerstitial kidney disease Congenital bilateral megacalycosis Nail-patella syndrome Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Rare hyperlipidemia Late-onset nephronophthisis Sporadic pheochromocytoma/secreting paraganglioma Idiopathic nephrotic syndrome Glutaryl-CoA dehydrogenase deficiency Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Methylmalonic acidemia with homocystinuria Dominant hypophosphatemia with nephrolithiasis or osteoporosis Tyrosinemia type 3 Infantile nephronophthisis Acquired monoclonal Ig light chain-associated Fanconi syndrome Primary renal tubular acidosis Oligoarticular juvenile idiopathic arthritis Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Immunotactoid or fibrillary glomerulopathy Juvenile nephronophthisis Action myoclonus-renal failure syndrome Unspecified juvenile idiopathic arthritis Bickerstaff brainstem encephalitis NPHP3-related Meckel-like syndrome Primary hyperoxaluria type 1 Renal tubular dysgenesis May-Hegglin thrombocytopenia Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy Primary hyperoxaluria type 3 Phenylketonuria Rare inborn errors of metabolism Lysosomal disease Primary hyperoxaluria type 2 Catecholamine-producing tumor Xanthinuria type II Lethal chondrodysplasia Xanthinuria type I Antenatal Bartter syndrome Congenital and infantile nephrotic syndrome Rare renal tubular disease Short stature-advanced bone age-early-onset osteoarthritis syndrome Cystic fibrosis Nephrogenic syndrome of inappropriate antidiuresis Primary membranous glomerulonephritis Bartter syndrome type 3 Medium chain acyl-CoA dehydrogenase deficiency Peroxisomal disease Autosomal dominant distal renal tubular acidosis Autosomal recessive proximal renal tubular acidosis Genetic primary hypomagnesemia with hypocalciuria Thrombotic thrombocytopenic purpura Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Autosomal recessive distal renal tubular acidosis without deafness Apparent mineralocorticoid excess Autosomal recessive distal renal tubular acidosis with deafness Idiopathic steroid-sensitive nephrotic syndrome Brachydactyly-arterial hypertension syndrome Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Autosomal recessive polycystic kidney disease Exstrophy-epispadias complex Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization Polyarticular juvenile idiopathic arthritis Cystinuria type B Autosomal dominant tubulointerstitial kidney disease Pseudohypoaldosteronism type 2D Idiopathic steroid-sensitive nephrotic syndrome with minimal change Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Rare systemic or rheumatological disease of childhood Rare genetic cause of hypertension Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation Isolated autosomal dominant hypomagnesemia, Glaudemans type Bartter syndrome type 4 Enthesitis-related juvenile idiopathic arthritis REN-related autosomal dominant tubulointerstitial kidney disease Genetic primary hypomagnesemia with normocalciuria Disorder of fatty acid oxidation and ketogenesis Psoriasis-related juvenile idiopathic arthritis Schimke immuno-osseous dysplasia Hereditary xanthinuria Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Osteopetrosis with renal tubular acidosis Kosaki overgrowth syndrome Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Multiple acyl-CoA dehydrogenase deficiency Very long chain acyl-CoA dehydrogenase deficiency Hereditary fructose intolerance Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes Disorder of urea cycle metabolism and ammonia detoxification Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Disorder of carnitine cycle and carnitine transport Rare renal disease X-linked Alport syndrome-diffuse leiomyomatosis Alport syndrome Mitochondrial trifunctional protein deficiency Primary Fanconi renotubular syndrome Pseudohypoaldosteronism type 2E Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Tyrosinemia type 1 Epstein syndrome Pseudopseudohypoparathyroidism Senior-Boichis syndrome Pseudohypoparathyroidism type 1C Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Hereditary amyloidosis with primary renal involvement Hemolytic uremic syndrome with DGKE deficiency Congenital primary megaureter Collagen type III glomerulopathy Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Pseudohypoparathyroidism Fechtner syndrome Pseudohypoaldosteronism type 1 Frasier syndrome WAGR syndrome Adult familial nephronophthisis-spastic quadriparesia syndrome Pseudohypoaldosteronism type 2 Renal agenesis, bilateral Pseudoxanthoma elasticum Cystinosis Congenital renal artery stenosis Overlapping connective tissue disease Cystinuria Dent disease type 1 Oligomeganephronia Multicystic dysplastic kidney Pierson syndrome Urachal cyst Renal-hepatic-pancreatic dysplasia Primary glomerular disease Galactosemia Renal hypoplasia Medullary sponge kidney Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Renal agenesis, unilateral RHYNS syndrome Denys-Drash syndrome Primary membranoproliferative glomerulonephritis Megacystis-megaureter syndrome Gitelman syndrome Williams syndrome Nephrogenic diabetes insipidus Congenital megacalycosis Posterior urethral valve Rare pediatric vasculitis Primary bone dysplasia Bladder exstrophy Juvenile idiopathic arthritis Cloacal exstrophy Rare pediatric systemic disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Unclassified vasculitis Primary bone dysplasia with micromelia Glycogen storage disease Primary megaureter, adult-onset form Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Primary hypomagnesemia with secondary hypocalcemia Duplication of urethra Maple syrup urine disease Multiple paragangliomas associated with polycythemia Anti-glomerular basement membrane disease Congenital primary megaureter, nonrefluxing and unobstructed form Hypotonia-cystinuria type 1 syndrome MYH9-related disease Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Immunoglobulin-mediated membranoproliferative glomerulonephritis Atresia of urethra Otopalatodigital syndrome spectrum disorder Juvenile dermatomyositis Glutaric acidemia type 3 Nephronophthisis Genetic steroid-resistant nephrotic syndrome Hereditary renal hypouricemia Atypical hypotonia-cystinuria syndrome Pseudohypoparathyroidism type 2 Unilateral multicystic dysplastic kidney Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Renal hypoplasia, bilateral Spondylometaphyseal dysplasia Tubulointerstitial nephritis and uveitis syndrome Liddle syndrome Disorder of purine or pyrimidine metabolism Familial juvenile hyperuricemic nephropathy type 1 Non-syndromic renal or urinary tract malformation Sporadic idiopathic steroid-resistant nephrotic syndrome Renal or urinary tract malformation Familial gestational hyperthyroidism Methylmalonic acidemia without homocystinuria Bilateral multicystic dysplastic kidney Autosomal dominant proximal renal tubular acidosis Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Isovaleric acidemia Propionic acidemia Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies Nail-patella-like renal disease Congenital primary megaureter, obstructed form Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies Proximal renal tubular acidosis Congenital primary megaureter, refluxing form Renal hypoplasia, unilateral Pseudohypoparathyroidism type 1A Senior-Loken syndrome Renal tubular dysgenesis due to twin-twin transfusion Renal tubular dysgenesis of genetic origin Bartter syndrome Fibronectin glomerulopathy Ochoa syndrome Sporadic secreting paraganglioma Carnitine-acylcarnitine translocase deficiency Megacystis-microcolon-intestinal hypoperistalsis syndrome Isolated epispadias Multiple epiphyseal dysplasia and pseudoachondroplasia Bartter syndrome with hypocalcemia Slender bone dysplasia Primary bone dysplasia with defective bone mineralization 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 Rare cause of hypertension Renal dysplasia Dent disease type 2 Renal coloboma syndrome Pauci-immune glomerulonephritis Adrenocortical carcinoma Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes Atypical hemolytic uremic syndrome Lipoprotein glomerulopathy Tuberous sclerosis complex Primary hyperoxaluria Pediatric systemic lupus erythematosus

Provided care options 6

# Contact person
1
Tuberöse Sklerose-Zentrum Freiburg
Dr. med. Jan Schönberger, PD Dr. Thorsten Langer

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

2
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.

3
Ambulanz für pädiatrische Genetik
PD Dr. Ekkehart Lausch

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

4
Spezialambulanz für Mukoviszidose
Prof. Dr. Andrea Heinzmann

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

5
Ambulanz für Rheuma im Kindesalter
Prof. Dr. Markus Hufnagel

0761 27043030
Website
Sprechzeiten: Mi 8:30 - 12:00 Uhr und 13:45 - 17:00 Uhr, Do 13:45 - 17:00 Uhr, Fr 13:45 - 17:00 Uhr.

6
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.

7.84299373626709148.003612864001084Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Last updated: 28.04.2026