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 Albright hereditary osteodystrophy Syndromic renal or urinary tract malformation Secondary glomerular disease Drug-related renal tubular dysgenesis Methylcobalamin deficiency type cblG HANAC syndrome Sebastian syndrome Oculocerebrorenal syndrome of Lowe Osteofibrous dysplasia Familial steroid-resistant nephrotic syndrome with sensorineural deafness 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 C3 glomerulonephritis Hypertension due to gain-of-function mutations in the mineralocorticoid receptor Autosomal dominant progressive nephropathy with hypertension Dense deposit disease Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome Congenital hydronephrosis Spondylodysplastic dysplasia Mesomelic and rhizo-mesomelic dysplasia Tyrosinemia type 2 Acromesomelic dysplasia Transient pseudohypoaldosteronism Vasculitis due to ADA2 deficiency Thrombotic microangiopathy Secondary vasculitis Pseudohypoaldosteronism type 2B Atypical hemolytic uremic syndrome with MCP/CD46 anomaly Pseudohypoaldosteronism type 2A Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome Atypical hemolytic uremic syndrome with C3 anomaly Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Primary bone dysplasia with multiple joint dislocations Atypical hemolytic uremic syndrome with B factor anomaly Pseudohypoaldosteronism type 2C Idiopathic hypercalciuria Familial hyperthyroidism due to mutations in TSH receptor Dent disease Primary bone dysplasia with increased bone density Atypical hemolytic uremic syndrome with H factor anomaly Congenital thrombotic thrombocytopenic purpura Distal renal tubular acidosis Renal dysplasia, unilateral Sporadic pheochromocytoma Galloway-Mowat syndrome Reactive arthritis Unilateral congenital megacalycosis Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyltransferase II deficiency Hereditary pheochromocytoma-paraganglioma Genetic primary hypomagnesemia Congenital nephrotic syndrome, Finnish type Shiga toxin-associated hemolytic uremic syndrome Renal pseudohypoaldosteronism type 1 Genetic cystic renal disease Adenine phosphoribosyltransferase deficiency Primary bone dysplasia with disorganized development of skeletal components Generalized pseudohypoaldosteronism type 1 2p21 microdeletion syndrome UMOD-related autosomal dominant tubulointerstitial kidney disease Systemic primary carnitine deficiency Primary osteolysis MUC1-related autosomal dominant tubulointerstitial kidney disease Congenital bilateral megacalycosis Rare hyperlipidemia Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Acquired monoclonal Ig light chain-associated Fanconi syndrome Methylmalonic acidemia with homocystinuria Tyrosinemia type 3 Infantile nephronophthisis Dominant hypophosphatemia with nephrolithiasis or osteoporosis Primary renal tubular acidosis Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Juvenile nephronophthisis Unspecified juvenile idiopathic arthritis Primary hyperoxaluria type 1 May-Hegglin thrombocytopenia Renal tubular dysgenesis Primary hyperoxaluria type 3 Primary hyperoxaluria type 2 Lysosomal disease Short stature-advanced bone age-early-onset osteoarthritis syndrome Medium chain acyl-CoA dehydrogenase deficiency Bartter syndrome type 3 Autosomal dominant distal renal tubular acidosis Autosomal recessive proximal renal tubular acidosis Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Apparent mineralocorticoid excess Brachydactyly-arterial hypertension syndrome Idiopathic steroid-sensitive nephrotic syndrome Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Autosomal recessive polycystic kidney disease Exstrophy-epispadias complex Polyarticular juvenile idiopathic arthritis Cystinuria type B Idiopathic steroid-sensitive nephrotic syndrome with minimal change Pseudohypoaldosteronism type 2D Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Rare systemic or rheumatological disease of childhood Enthesitis-related juvenile idiopathic arthritis Isolated autosomal dominant hypomagnesemia, Glaudemans type Bartter syndrome type 4 Psoriasis-related juvenile idiopathic arthritis Schimke immuno-osseous dysplasia Disorder of fatty acid oxidation and ketogenesis Hereditary xanthinuria Kosaki overgrowth syndrome Hereditary fructose intolerance Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Alport syndrome Rare renal disease X-linked Alport syndrome-diffuse leiomyomatosis Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Primary Fanconi renotubular syndrome Pseudohypoaldosteronism type 2E Mitochondrial trifunctional protein deficiency Epstein syndrome Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Hereditary amyloidosis with primary renal involvement Hemolytic uremic syndrome with DGKE deficiency Pseudohypoaldosteronism type 1 Fechtner syndrome Adult familial nephronophthisis-spastic quadriparesia syndrome WAGR syndrome Pseudohypoaldosteronism type 2 Renal agenesis, bilateral Cystinosis Congenital renal artery stenosis Overlapping connective tissue disease Dent disease type 1 Multicystic dysplastic kidney Renal-hepatic-pancreatic dysplasia Primary glomerular disease Renal hypoplasia Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Renal agenesis, unilateral Megacystis-megaureter syndrome Congenital megacalycosis Posterior urethral valve Primary bone dysplasia Juvenile idiopathic arthritis Rare pediatric systemic disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Unclassified vasculitis 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 Anti-glomerular basement membrane disease Hypotonia-cystinuria type 1 syndrome MYH9-related disease Immunoglobulin-mediated membranoproliferative glomerulonephritis Atresia of urethra Juvenile dermatomyositis Glutaric acidemia type 3 Nephronophthisis Hereditary renal hypouricemia Atypical hypotonia-cystinuria syndrome Pseudohypoparathyroidism type 2 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Spondylometaphyseal dysplasia Tubulointerstitial nephritis and uveitis syndrome Liddle syndrome Disorder of purine or pyrimidine metabolism Familial juvenile hyperuricemic nephropathy type 1 Sporadic idiopathic steroid-resistant nephrotic syndrome Familial gestational hyperthyroidism 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 Congenital primary megaureter, obstructed form Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies Proximal renal tubular acidosis Autosomal dominant proximal renal tubular acidosis Nail-patella-like renal disease Congenital primary megaureter, refluxing form Renal hypoplasia, unilateral Senior-Loken syndrome Renal tubular dysgenesis due to twin-twin transfusion Renal tubular dysgenesis of genetic origin Bartter syndrome Fibronectin glomerulopathy Sporadic secreting paraganglioma Carnitine-acylcarnitine translocase deficiency Megacystis-microcolon-intestinal hypoperistalsis syndrome Multiple epiphyseal dysplasia and pseudoachondroplasia Bartter syndrome with hypocalcemia Slender bone dysplasia Primary bone dysplasia with defective bone mineralization Joubert syndrome with oculorenal defect LAMB2-related infantile-onset nephrotic syndrome Atypical hemolytic uremic syndrome with anti-factor H antibodies Systemic-onset juvenile idiopathic arthritis Distal renal tubular acidosis with anemia Cystinuria type A Rare cause of hypertension Dent disease type 2 Renal coloboma syndrome Adrenocortical carcinoma Pseudohypoparathyroidism type 1A Ochoa syndrome Isolated epispadias Rare infectious disease Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Von Hippel-Lindau disease Pseudohypoparathyroidism type 1B Prune belly syndrome Renal dysplasia Pauci-immune glomerulonephritis Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes Atypical hemolytic uremic syndrome Pediatric systemic lupus erythematosus Primary hyperoxaluria Lipoprotein glomerulopathy Tuberous sclerosis complex Immunotactoid or fibrillary glomerulopathy Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation Glutaryl-CoA dehydrogenase deficiency Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Congenital primary megaureter, nonrefluxing and unobstructed form Unilateral multicystic dysplastic kidney Genetic steroid-resistant nephrotic syndrome RHYNS syndrome Phenylketonuria Multiple paragangliomas associated with polycythemia Rare pediatric vasculitis Renal hypoplasia, bilateral Bilateral multicystic dysplastic kidney Primary membranoproliferative glomerulonephritis Senior-Boichis syndrome Collagen type III glomerulopathy Idiopathic nephrotic syndrome Sporadic pheochromocytoma/secreting paraganglioma 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 Oligomeganephronia Cystinuria Nephrogenic diabetes insipidus 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 Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy Congenital and infantile nephrotic syndrome Lethal chondrodysplasia Primary membranous glomerulonephritis Medullary sponge kidney Bickerstaff brainstem encephalitis Pseudohypoparathyroidism Disorder of urea cycle metabolism and ammonia detoxification Genetic primary hypomagnesemia with hypocalciuria Frasier syndrome Genetic primary hypomagnesemia with normocalciuria Galactosemia Glycogen storage disease Autosomal dominant tubulointerstitial kidney disease Gitelman syndrome Renal or urinary tract malformation Non-syndromic renal or urinary tract malformation Glomerular disease Basement membrane disease ALys amyloidosis AApoAI amyloidosis Atypical hemolytic uremic syndrome with I factor anomaly Immune-mediated thrombotic thrombocytopenic purpura Late-onset nephronophthisis Xanthinuria type I Rare renal tubular disease Oligoarticular juvenile idiopathic arthritis Xanthinuria type II Antenatal Bartter syndrome Nephrogenic syndrome of inappropriate antidiuresis 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 Urachal cyst Methylmalonic acidemia without homocystinuria Anti-neutrophil cytoplasmic antibody-associated vasculitis Familial primary hypomagnesemia with normocalciuria and normocalcemia Osteopetrosis with renal tubular acidosis Bladder exstrophy Pseudoxanthoma elasticum Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Denys-Drash syndrome REN-related autosomal dominant tubulointerstitial kidney disease Pontocerebellar hypoplasia type 2 Nail-patella syndrome Cystic fibrosis Pseudopseudohypoparathyroidism Pseudohypoparathyroidism type 1C Congenital primary megaureter Pierson syndrome Catecholamine-producing tumor Autosomal dominant primary hypomagnesemia with hypocalciuria Rare inborn errors of metabolism Cloacal exstrophy Peroxisomal disease Thrombotic thrombocytopenic purpura Hypotonia-cystinuria syndrome Action myoclonus-renal failure syndrome Tyrosinemia type 1 Williams syndrome Disorder of carnitine cycle and carnitine transport Atypical hemolytic uremic syndrome with thrombomodulin anomaly Rare genetic cause of hypertension NPHP3-related Meckel-like syndrome Renal dysplasia, bilateral Otopalatodigital syndrome spectrum disorder Rapidly progressive glomerulonephritis Primary bone dysplasia with micromelia

Provided care options 6

# Contact person
1
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.

2
Tuberöse Sklerose-Zentrum Freiburg
Dr. med. Jan Schönberger, PD Dr. Thorsten Langer

0761 27043520
Email
Website
Sprechzeiten 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 pädiatrische Genetik
PD Dr. Ekkehart Lausch

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

5
Spezialambulanz für Mukoviszidose
Prof. Dr. Andrea Heinzmann

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

6
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.

7.84299373626709148.003612864001084Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Last updated: 30.06.2026