SE-ATLAS

Cartographie des Institutions de prise en charge
pour personnes atteintes de maladies rares

Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg

Description du centre

Responsable / Porte-parole de l'institution
Prof. Dr. Ute Spiekerkötter
Information
Institution pour enfants
Description de l'institution

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

Cette institution offre les services suivants :
  • Conseil social/juridique
  • Consultation genetique
  • Essai /recherche clinique
  • Diagnostic
  • Therapy
  • Personne de contact pour patients avec diagnostic incertain
  • Contact avec les associations

    Hilfe für nierenkranke Kinder und Jugendliche e.V.

contact

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

adresse

Mathildenstraße 1
79106 Freiburg
Anfahrt: Heiliggeiststraße 1

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langues

Germany.png Deutsch
United_Kingdom.png Englisch

Certificats 3

European Reference Network 1

Nommer par l’institution 1

Aperçu des maladies traitées 15

C3 glomerulopathy Albright hereditary osteodystrophy Syndromic renal or urinary tract malformation Secondary glomerular 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 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 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 Atypical hemolytic uremic syndrome with C3 anomaly Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome 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 Familial hyperthyroidism due to mutations in TSH receptor Idiopathic hypercalciuria Dent disease Primary bone dysplasia with increased bone density Atypical hemolytic uremic syndrome with H factor anomaly Congenital thrombotic thrombocytopenic purpura Renal dysplasia, unilateral Distal renal tubular acidosis Sporadic pheochromocytoma Unilateral congenital megacalycosis Galloway-Mowat syndrome Reactive arthritis Carnitine palmitoyl transferase 1A deficiency Genetic primary hypomagnesemia Shiga toxin-associated hemolytic uremic syndrome Congenital nephrotic syndrome, Finnish type Hereditary pheochromocytoma-paraganglioma Carnitine palmitoyltransferase II deficiency Renal pseudohypoaldosteronism type 1 Adenine phosphoribosyltransferase deficiency Genetic cystic renal disease Generalized pseudohypoaldosteronism type 1 2p21 microdeletion syndrome UMOD-related autosomal dominant tubulointerstitial kidney disease Primary bone dysplasia with disorganized development of skeletal components Systemic primary carnitine deficiency MUC1-related autosomal dominant tubulointerstitial kidney disease Congenital bilateral megacalycosis Primary osteolysis Rare hyperlipidemia Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Methylmalonic acidemia with homocystinuria Dominant hypophosphatemia with nephrolithiasis or osteoporosis Infantile nephronophthisis Tyrosinemia type 3 Acquired monoclonal Ig light chain-associated Fanconi syndrome Primary renal tubular acidosis Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Juvenile nephronophthisis Unspecified juvenile idiopathic arthritis Renal tubular dysgenesis Primary hyperoxaluria type 1 May-Hegglin thrombocytopenia 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 Idiopathic steroid-sensitive nephrotic syndrome Brachydactyly-arterial hypertension syndrome Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Autosomal recessive polycystic kidney disease Polyarticular juvenile idiopathic arthritis Cystinuria type B 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 Isolated autosomal dominant hypomagnesemia, Glaudemans type Bartter syndrome type 4 Enthesitis-related juvenile idiopathic arthritis Disorder of fatty acid oxidation and ketogenesis Psoriasis-related juvenile idiopathic arthritis Schimke immuno-osseous dysplasia 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 Rare renal disease Alport syndrome X-linked Alport syndrome-diffuse leiomyomatosis Mitochondrial trifunctional protein deficiency Pseudohypoaldosteronism type 2E Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Primary Fanconi renotubular syndrome Epstein syndrome Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Hereditary amyloidosis with primary renal involvement Hemolytic uremic syndrome with DGKE deficiency Fechtner syndrome Pseudohypoaldosteronism type 1 WAGR syndrome Adult familial nephronophthisis-spastic quadriparesia 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 Renal agenesis, unilateral Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Megacystis-megaureter syndrome Posterior urethral valve Congenital megacalycosis 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 Tubulointerstitial nephritis and uveitis syndrome Spondylometaphyseal dysplasia Liddle syndrome Familial juvenile hyperuricemic nephropathy type 1 Disorder of purine or pyrimidine metabolism Familial gestational hyperthyroidism Sporadic idiopathic steroid-resistant nephrotic syndrome 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 Nail-patella-like renal disease Proximal renal tubular acidosis Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies Autosomal dominant proximal renal tubular acidosis Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Renal hypoplasia, unilateral Pseudohypoparathyroidism type 1A 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 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 Prune belly syndrome Distal renal tubular acidosis with anemia Cystinuria type A Rare cause of hypertension Renal dysplasia Renal coloboma syndrome Pauci-immune glomerulonephritis Senior-Loken syndrome Sporadic secreting paraganglioma Congenital primary megaureter, refluxing form Autosomal dominant Alport syndrome Von Hippel-Lindau disease Pseudohypoparathyroidism type 1B Atypical hemolytic uremic syndrome with anti-factor H antibodies Systemic-onset juvenile idiopathic arthritis Dent disease type 2 Adrenocortical carcinoma Bartter syndrome with hypocalcemia Atypical hemolytic uremic syndrome Lipoprotein glomerulopathy Tuberous sclerosis complex Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes Pediatric systemic lupus erythematosus Primary hyperoxaluria 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 Familial primary hypomagnesemia with normocalciuria and normocalcemia 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 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 Trouble du métabolisme du cycle de l'urée et de la détoxification de l'ammoniac Hypomagnésémie primaire d'origine génétique avec hypocalciurie Syndrome de Frasier Hypomagnésémie primaire d'origine génétique avec normocalciurie Galactosémie Maladie de stockage du glycogène Néphropathie tubulo-intersitielle autosomique dominante Syndrome de Gitelman Malformation du rein et des voies urinaires Anomalie non syndromique du développement du rein et des voies urinaires Néphropathie glomérulaire Basalopathie Amylose ALys Amylose AApoAI Syndrome hémolytique et urémique atypique associé à une anomalie du facteur I Purpura thrombotique thrombocytopénique d'origine immunitaire Néphronophtise tardive Xanthinurie type I Néphropathie tubulaire rare Arthrite juvénile idiopathique oligoarticulaire Xanthinurie type II Syndrome de Bartter anténatal Syndrome néphrogénique d'antidiurèse inappropriée Acidose tubulaire rénale distale autosomique récessive sans surdité Acidose tubulaire rénale distale autosomique récessive avec surdité Glomérulopathie extra-membraneuse congénitale par allo-immunisation foetomaternelle anti-endopeptidase neutre Kyste de l'ouraque Acidémie méthylmalonique sans homocystinurie Vascularite associée aux anticorps antineutrophiles cytoplasmiques Syndrome nail-patella Mucoviscidose Pseudopseudohypoparathyroïdie Pseudohypoparathyroïdie type 1C Méga-uretère primitif congénital Syndrome de Pierson Syndrome de leucoencéphalopathie progressive à début précoce-calcification du système nerveux central-surdité-cécité Tumeur sécrétrice de catécholamines Syndrome de Denys-Drash Néphropathie tubulo-intersitielle autosomique dominante associée à REN Hypoplasie pontocérébelleuse type 2 Hypomagnésémie primaire autosomique dominante avec hypocalciurie Erreurs innées du métabolisme rares Maladie péroxysomale Purpura thrombotique thrombocytopénique Syndrome d'hypotonie-cystinurie Syndrome de myoclonus d'action-insuffisance rénale Tyrosinémie type 1 Syndrome de Williams Trouble du cycle de la carnitine et du transport de la carnitine Syndrome hémolytique et urémique atypique associé à une anomalie de la thrombomoduline Hypertension artérielle de cause génétique rare Syndrome Meckel-like associé à NPHP3 Dysplasie rénale bilatérale Spectre phénotypique des ostéodysplasies oto-palato-digitales Glomérulonéphrite rapidement progressive Dysplasie osseuse primaire avec micromélie Maladie de Wilson

Possibilités de support 7

# Personne à contacter
1
Ambulanz für Rheuma im Kindesalter
Prof. Dr. Markus Hufnagel

0761 27043011
Email
Site internet
Sprechzeiten nach Vereinbarung.

2
Ambulanz für pädiatrische Genetik
PD Dr. Ekkehart Lausch

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

3
Spezialambulanz für Mukoviszidose
Prof. Dr. Andrea Heinzmann

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

4
Ambulanz für Morbus Wilson
PD Dr. Ulrike Teufel-Schäfer

0761 27043011
Sprechzeiten nach Vereinbarung.

5
Ambulanz für Infektionskrankheiten, Infektanfälligkeit und Impffragen im Kindesalter
Prof. Dr. Philipp Henneke

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

6
Tuberöse Sklerose-Zentrum Freiburg
Dr. med. Jan Schönberger, PD Dr. Thorsten Langer

0761 27043520
Email
Site internet
Sprechzeiten nach Vereinbarung.
Cette consultation offre des services de conseil génétique

7
Spezialambulanz für seltene Nierenerkrankungen im Kindesalter
Dr. Martin Pohl

0761 27045350
Email
Site internet
Sprechzeiten: Mo – Fr 9:00 – 11:00 Uhr, Di 14:30 - 16:00 Uhr sowie nach Vereinbarung.
Cette consultation offre des services de conseil génétique

7.84299373626709148.003612864001084Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Dernière modification: 31.08.2026