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

C3 glomerulopathy Albright hereditary osteodystrophy Syndromic renal or urinary tract malformation 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 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 Pseudohypoaldosteronism type 2A Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome Primary bone dysplasia with multiple joint dislocations Pseudohypoaldosteronism type 2C Familial hyperthyroidism due to mutations in TSH receptor Idiopathic hypercalciuria Dent disease Primary bone dysplasia with increased bone density Congenital thrombotic thrombocytopenic purpura Renal dysplasia, unilateral Distal renal tubular acidosis Unilateral congenital megacalycosis Galloway-Mowat syndrome Reactive arthritis Carnitine palmitoyl transferase 1A deficiency 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 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 Rare renal disease Alport syndrome X-linked Alport syndrome-diffuse leiomyomatosis Mitochondrial trifunctional protein deficiency Pseudohypoaldosteronism type 2E Primary Fanconi renotubular syndrome Epstein syndrome 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 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 Disorder of purine or pyrimidine metabolism Familial gestational hyperthyroidism Sporadic idiopathic steroid-resistant nephrotic syndrome Isovaleric acidemia Propionic acidemia Congenital primary megaureter, obstructed form Nail-patella-like renal disease Proximal renal tubular acidosis Autosomal dominant proximal renal tubular acidosis 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 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 Pediatric systemic lupus erythematosus Primary hyperoxaluria Immunotactoid or fibrillary glomerulopathy Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Glutaryl-CoA dehydrogenase deficiency 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 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 Bickerstaff brainstem encephalitis Pseudohypoparathyroidism Disorder of urea cycle metabolism and ammonia detoxification Frasier syndrome 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 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 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 Nail-patella syndrome 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 REN-related autosomal dominant tubulointerstitial kidney disease Pontocerebellar hypoplasia type 2 Autosomal dominant primary hypomagnesemia with hypocalciuria Rare inborn errors of metabolism 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 Rare genetic cause of hypertension NPHP3-related Meckel-like syndrome Renal dysplasia, bilateral Otopalatodigital syndrome spectrum disorder Primary bone dysplasia with micromelia Wilson disease

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
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 Rheuma im Kindesalter
Prof. Dr. Markus Hufnagel

0761 27043011
Email
Website
Sprechzeiten nach Vereinbarung.

4
Tuberöse Sklerose-Zentrum Freiburg
Dr. med. Jan Schönberger, PD Dr. Thorsten Langer

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

5
Spezialambulanz für Mukoviszidose
Prof. Dr. Andrea Heinzmann

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

6
Ambulanz für Morbus Wilson
PD Dr. Ulrike Teufel-Schäfer

0761 27043011
Sprechzeiten nach Vereinbarung.

7
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: 31.08.2026