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 2

European Reference Network 1

Mentioned by the following facilities 1

Preview of the assigned diseases 13

Glomerulonephritis, membranoproliferative, nicht Immunoglobulin-vermittelte Glomerulopathie Albright-Osteodystrophie, hereditäre Nieren/Harnwegsfehlbildung, syndromale Glomerulopathie, sekundäre Vaskulitis mit assoziierten antineutrophilen zytoplasmatischen Antikörpern Dysgenesie, renale tubuläre, Medikamenten-induzierte Basalmembrandefekt Methylcobalamin-Mangel Typ cbl G Lupus erythematodes, systemischer, des Kindesalters HANAC-Syndrom Sebastian-Syndrom Okulo-zerebro-renales Syndrom Lowe Osteofibröse Dysplasie Nephrotisches Syndrom, steroid-resistentes, mit sensorineuraler Hörstörung, familiäre Form Alport-Syndrom, X-chromosomales Mischkollagenose AApoAII-Amyloidose Hyperaldosteronismus, familiärer, Typ I Nephrotisches Syndrom-Epidermolysis bullosa-sensorineurale Schwerhörigkeit-Syndrom Nierenkrankheit, polyzystische, autosomal-dominante, Typ 1, mit tuberöser Sklerose ALys-Amyloidose Vaskulitis, hypokomplementämische urtikarielle AApoAI-Amyloidose Ziliopathie mit vorwiegend skelettaler Beteiligung AFib-Amyloidose Smith-Lemli-Opitz-Syndrom Dysplasie, metaphysäre Hypertension durch 'gain-of-function'-Mutationen im Mineralocorticoid-Rezeptor C3-Glomerulonephritis Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Autosomal dominant progressive nephropathy with hypertension Acromelic dysplasia Primary hyperoxaluria Dense deposit disease Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome Congenital hydronephrosis Spondylodysplastic dysplasia Tyrosinemia type 2 Mesomelic and rhizo-mesomelic dysplasia Acromesomelic dysplasia Transient pseudohypoaldosteronism Vasculitis due to ADA2 deficiency Secondary vasculitis Pseudohypoaldosteronism type 2B Thrombotic microangiopathy Atypical hemolytic uremic syndrome with MCP/CD46 anomaly Campomelic dysplasia and related disorders 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 Chondrodysplasia punctata Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement Primary bone dysplasia with multiple joint dislocations Pseudohypoaldosteronism type 2C Atypical hemolytic uremic syndrome with B factor anomaly Idiopathic hypercalciuria Familial hyperthyroidism due to mutations in TSH receptor Dent disease Atypical hemolytic uremic syndrome with I factor anomaly Primary bone dysplasia with increased bone density Atypical hemolytic uremic syndrome with H factor anomaly Rapidly progressive glomerulonephritis Congenital thrombotic thrombocytopenic purpura Renal dysplasia, bilateral Primary bone dysplasia with decreased bone density Distal renal tubular acidosis Hypotonia-cystinuria syndrome Renal dysplasia, unilateral Sporadic pheochromocytoma Galloway-Mowat syndrome Reactive arthritis Immune-mediated thrombotic thrombocytopenic purpura Carnitine palmitoyl transferase 1A deficiency Unilateral congenital megacalycosis Genetic primary hypomagnesemia Carnitine palmitoyltransferase II deficiency Familial primary hypomagnesemia with normocalciuria and normocalcemia Congenital nephrotic syndrome, Finnish type Hereditary pheochromocytoma-paraganglioma Shiga toxin-associated hemolytic uremic syndrome Renal pseudohypoaldosteronism type 1 Genetic cystic renal disease Atypical hemolytic uremic syndrome with thrombomodulin anomaly Adenine phosphoribosyltransferase deficiency Autosomal dominant primary hypomagnesemia with hypocalciuria 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 Systemic primary carnitine deficiency Nail-patella syndrome Primary osteolysis MUC1-related autosomal dominant tubulointerstitial kidney disease Congenital bilateral megacalycosis Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Sporadic pheochromocytoma/secreting paraganglioma Rare hyperlipidemia Late-onset nephronophthisis Idiopathic nephrotic syndrome Glutaryl-CoA dehydrogenase deficiency Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Acquired monoclonal Ig light chain-associated Fanconi syndrome Methylmalonic acidemia with homocystinuria Dominant hypophosphatemia with nephrolithiasis or osteoporosis Tyrosinemia type 3 Infantile nephronophthisis Primary renal tubular acidosis Oligoarticular juvenile idiopathic arthritis Immunotactoid or fibrillary glomerulopathy Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Action myoclonus-renal failure syndrome Juvenile nephronophthisis Unspecified juvenile idiopathic arthritis Bickerstaff brainstem encephalitis NPHP3-related Meckel-like syndrome May-Hegglin thrombocytopenia Primary hyperoxaluria type 1 Renal tubular dysgenesis Phenylketonuria Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy Primary hyperoxaluria type 3 Rare inborn errors of metabolism Catecholamine-producing tumor Lysosomal disease Primary hyperoxaluria type 2 Xanthinuria type II Lethal chondrodysplasia Xanthinuria type I Congenital and infantile nephrotic syndrome Antenatal Bartter syndrome Rare renal tubular disease Short stature-advanced bone age-early-onset osteoarthritis syndrome Cystic fibrosis Nephrogenic syndrome of inappropriate antidiuresis Medium chain acyl-CoA dehydrogenase deficiency Primary membranous glomerulonephritis Bartter syndrome type 3 Peroxisomal disease Autosomal dominant distal renal tubular acidosis Genetic primary hypomagnesemia with hypocalciuria Autosomal recessive proximal renal tubular acidosis Thrombotic thrombocytopenic purpura Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Autosomal recessive distal renal tubular acidosis without deafness Apparent mineralocorticoid excess Brachydactyly-arterial hypertension syndrome Autosomal recessive distal renal tubular acidosis with deafness Idiopathic steroid-sensitive nephrotic syndrome Autosomal recessive polycystic kidney disease Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Exstrophy-epispadias complex Polyarticular juvenile idiopathic arthritis Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization Cystinuria type B Idiopathic steroid-sensitive nephrotic syndrome with minimal change Autosomal dominant tubulointerstitial kidney disease Pseudohypoaldosteronism type 2D Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Rare systemic or rheumatological disease of childhood Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation Rare genetic cause of hypertension Isolated autosomal dominant hypomagnesemia, Glaudemans type REN-related autosomal dominant tubulointerstitial kidney disease Bartter syndrome type 4 Enthesitis-related juvenile idiopathic arthritis Schimke immuno-osseous dysplasia Genetic primary hypomagnesemia with normocalciuria Disorder of fatty acid oxidation and ketogenesis Psoriasis-related juvenile idiopathic arthritis Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Hereditary xanthinuria Kosaki overgrowth syndrome Osteopetrosis with renal tubular acidosis 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 Alport syndrome Rare renal disease X-linked Alport syndrome-diffuse leiomyomatosis Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Mitochondrial trifunctional protein deficiency Primary Fanconi renotubular syndrome Pseudohypoaldosteronism type 2E Tyrosinemia type 1 Pseudopseudohypoparathyroidism Epstein syndrome Senior-Boichis syndrome Pseudohypoparathyroidism type 1C Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes 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 Pseudohypoaldosteronism type 1 Fechtner syndrome Adult familial nephronophthisis-spastic quadriparesia syndrome Frasier syndrome WAGR syndrome Pseudohypoaldosteronism type 2 Renal agenesis, bilateral Cystinosis Pseudoxanthoma elasticum Congenital renal artery stenosis Cystinuria Overlapping connective tissue disease Oligomeganephronia Dent disease type 1 Multicystic dysplastic kidney Renal-hepatic-pancreatic dysplasia Pierson syndrome Urachal cyst Galactosemia Primary glomerular disease Renal hypoplasia Medullary sponge kidney RHYNS syndrome Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Renal agenesis, unilateral Denys-Drash syndrome Megacystis-megaureter syndrome Primary membranoproliferative glomerulonephritis Gitelman syndrome Williams syndrome Nephrogenic diabetes insipidus Atypical hemolytic uremic syndrome Rare pediatric vasculitis Congenital megacalycosis Posterior urethral valve Bladder exstrophy Primary bone dysplasia Juvenile idiopathic arthritis Cloacal exstrophy Rare pediatric systemic disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Glycogen storage disease Unclassified vasculitis Primary bone dysplasia with micromelia Primary megaureter, adult-onset form Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Primary hypomagnesemia with secondary hypocalcemia Lipoprotein glomerulopathy Duplication of urethra Multiple paragangliomas associated with polycythemia Maple syrup urine disease Congenital primary megaureter, nonrefluxing and unobstructed form Anti-glomerular basement membrane disease 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 Juvenile dermatomyositis Otopalatodigital syndrome spectrum disorder 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 Liddle syndrome Spondylometaphyseal dysplasia Tubulointerstitial nephritis and uveitis syndrome Non-syndromic renal or urinary tract malformation Disorder of purine or pyrimidine metabolism Familial juvenile hyperuricemic nephropathy type 1 Bilateral multicystic dysplastic kidney Sporadic idiopathic steroid-resistant nephrotic syndrome Renal or urinary tract malformation Familial gestational hyperthyroidism Methylmalonic acidemia without homocystinuria 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

Provided care options 5

# 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
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 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.

4
Spezialambulanz für Mukoviszidose
Prof. Dr. Andrea Heinzmann

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

5
Ambulanz für pädiatrische Genetik
PD Dr. Ekkehart Lausch

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

7.84299373626709148.003612864001084Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Last updated: 18.02.2026