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 2

Preview of the assigned diseases 14

C3 glomerulopathy Glomerular disease Albright hereditary osteodystrophy Renal tubular dysgenesis due to twin-twin transfusion Syndromic renal or urinary tract malformation Secondary glomerular disease Anti-neutrophil cytoplasmic antibody-associated vasculitis Renal tubular dysgenesis of genetic origin Drug-related renal tubular dysgenesis Basement membrane disease Methylcobalamin deficiency type cblG Pediatric systemic lupus erythematosus Sebastian syndrome HANAC syndrome Oculocerebrorenal syndrome of Lowe Autosomal dominant Alport syndrome Familial steroid-resistant nephrotic syndrome with sensorineural deafness Osteofibrous dysplasia X-linked Alport syndrome Mixed connective tissue disease Autosomal recessive Alport syndrome 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 Joubert syndrome with oculorenal defect Smith-Lemli-Opitz syndrome Multiple epiphyseal dysplasia and pseudoachondroplasia Adrenocortical carcinoma 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 Primary hyperoxaluria Acromelic dysplasia Dense deposit disease Spondylodysplastic dysplasia Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome Congenital hydronephrosis Mesomelic and rhizo-mesomelic dysplasia Tyrosinemia type 2 Transient pseudohypoaldosteronism Acromesomelic dysplasia Secondary vasculitis Thrombotic microangiopathy Pseudohypoaldosteronism type 2B Vasculitis due to ADA2 deficiency Slender bone dysplasia Atypical hemolytic uremic syndrome with MCP/CD46 anomaly Campomelic dysplasia and related disorders Pseudohypoaldosteronism type 2A 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 Atypical hemolytic uremic syndrome with B factor anomaly Primary bone dysplasia with multiple joint dislocations Pseudohypoaldosteronism type 2C 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 anti-factor H antibodies 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 Distal renal tubular acidosis Renal dysplasia, unilateral Sporadic pheochromocytoma Senior-Loken syndrome Reactive arthritis Immune-mediated thrombotic thrombocytopenic purpura Galloway-Mowat syndrome Unilateral congenital megacalycosis Carnitine palmitoyl transferase 1A deficiency Genetic primary hypomagnesemia Carnitine palmitoyltransferase II deficiency Congenital nephrotic syndrome, Finnish type Familial primary hypomagnesemia with normocalciuria and normocalcemia Hereditary pheochromocytoma-paraganglioma Shiga toxin-associated hemolytic uremic syndrome Renal pseudohypoaldosteronism type 1 Primary bone dysplasia with defective bone mineralization Atypical hemolytic uremic syndrome with thrombomodulin anomaly Genetic cystic renal disease Adenine phosphoribosyltransferase deficiency Primary bone dysplasia with disorganized development of skeletal components Cleidocranial dysplasia and isolated cranial ossification defect UMOD-related autosomal dominant tubulointerstitial kidney disease Autosomal dominant primary hypomagnesemia with hypocalciuria Generalized pseudohypoaldosteronism type 1 2p21 microdeletion syndrome Nail-patella-like renal disease Systemic primary carnitine deficiency MUC1-related autosomal dominant tubulointerstitial kidney disease Congenital bilateral megacalycosis Primary osteolysis Nail-patella syndrome Carnitine-acylcarnitine translocase deficiency Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Late-onset nephronophthisis Rare hyperlipidemia Sporadic pheochromocytoma/secreting paraganglioma Idiopathic nephrotic syndrome Glutaryl-CoA dehydrogenase deficiency Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Tyrosinemia type 3 Methylmalonic acidemia with homocystinuria Infantile nephronophthisis Acquired monoclonal Ig light chain-associated Fanconi syndrome Dominant hypophosphatemia with nephrolithiasis or osteoporosis Primary renal tubular acidosis Oligoarticular juvenile idiopathic arthritis Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Immunotactoid or fibrillary glomerulopathy Action myoclonus-renal failure syndrome Juvenile nephronophthisis Sporadic secreting paraganglioma Unspecified juvenile idiopathic arthritis Bickerstaff brainstem encephalitis NPHP3-related Meckel-like syndrome Systemic-onset juvenile idiopathic arthritis May-Hegglin thrombocytopenia Primary hyperoxaluria type 1 Renal tubular dysgenesis Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies Isovaleric acidemia Phenylketonuria Primary hyperoxaluria type 3 Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy Rare inborn errors of metabolism Catecholamine-producing tumor Lysosomal disease Primary hyperoxaluria type 2 Propionic acidemia 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 LAMB2-related infantile-onset nephrotic syndrome Bartter syndrome type 3 Primary membranous glomerulonephritis Medium chain acyl-CoA dehydrogenase deficiency Peroxisomal disease Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies Autosomal dominant distal renal tubular acidosis Autosomal recessive proximal renal tubular acidosis Genetic primary hypomagnesemia with hypocalciuria Thrombotic thrombocytopenic purpura Distal renal tubular acidosis with anemia Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Autosomal recessive distal renal tubular acidosis without deafness Cystinuria type A Apparent mineralocorticoid excess Brachydactyly-arterial hypertension syndrome Autosomal recessive distal renal tubular acidosis with deafness Idiopathic steroid-sensitive nephrotic syndrome Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Autosomal recessive polycystic kidney disease Exstrophy-epispadias complex Bartter syndrome with hypocalcemia Polyarticular juvenile idiopathic arthritis Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization Cystinuria type B Pseudohypoaldosteronism type 2D Autosomal dominant tubulointerstitial kidney disease Idiopathic steroid-sensitive nephrotic syndrome with minimal change Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Rare systemic or rheumatological disease of childhood Rare cause of hypertension Rare genetic cause of hypertension Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation Isolated autosomal dominant hypomagnesemia, Glaudemans type Enthesitis-related juvenile idiopathic arthritis REN-related autosomal dominant tubulointerstitial kidney disease Bartter syndrome type 4 Psoriasis-related juvenile idiopathic arthritis Disorder of fatty acid oxidation and ketogenesis Schimke immuno-osseous dysplasia Genetic primary hypomagnesemia with normocalciuria Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Hereditary xanthinuria Osteopetrosis with renal tubular acidosis Kosaki overgrowth syndrome Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Multiple acyl-CoA dehydrogenase deficiency Megacystis-microcolon-intestinal hypoperistalsis syndrome Dent disease type 2 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 Pseudohypoparathyroidism type 1A 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 Pseudohypoaldosteronism type 2E Primary Fanconi renotubular syndrome Tyrosinemia type 1 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Epstein syndrome Pseudopseudohypoparathyroidism 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 Von Hippel-Lindau disease Pseudohypoaldosteronism type 1 Fibronectin glomerulopathy Fechtner syndrome 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 Oligomeganephronia Dent disease type 1 Multicystic dysplastic kidney Pierson syndrome Renal-hepatic-pancreatic dysplasia Urachal cyst Primary glomerular disease Galactosemia Renal hypoplasia Medullary sponge kidney Renal agenesis, unilateral Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement RHYNS syndrome Rare infectious disease Denys-Drash syndrome Megacystis-megaureter syndrome Primary membranoproliferative glomerulonephritis Gitelman syndrome Williams syndrome Nephrogenic diabetes insipidus Atypical hemolytic uremic syndrome Isolated epispadias Posterior urethral valve Rare pediatric vasculitis Congenital megacalycosis Renal dysplasia Primary bone dysplasia Bladder exstrophy Juvenile idiopathic arthritis Cloacal exstrophy Rare pediatric systemic disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Autosomal dominant proximal renal tubular acidosis Primary bone dysplasia with micromelia Glycogen storage disease Unclassified vasculitis Primary megaureter, adult-onset form Congenital primary megaureter, refluxing 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, obstructed form 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 Proximal renal tubular acidosis Prune belly syndrome Juvenile dermatomyositis Otopalatodigital syndrome spectrum disorder Pauci-immune glomerulonephritis Glutaric acidemia type 3 Nephronophthisis Genetic steroid-resistant nephrotic syndrome Renal coloboma syndrome Bartter syndrome Hereditary renal hypouricemia Ochoa syndrome Renal hypoplasia, unilateral Atypical hypotonia-cystinuria syndrome Pseudohypoparathyroidism type 2 Unilateral multicystic dysplastic kidney Pseudohypoparathyroidism type 1B Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Renal hypoplasia, bilateral Spondylometaphyseal dysplasia Tubulointerstitial nephritis and uveitis syndrome Liddle syndrome Familial juvenile hyperuricemic nephropathy type 1 Non-syndromic renal or urinary tract malformation Disorder of purine or pyrimidine metabolism Methylmalonic acidemia without homocystinuria Renal or urinary tract malformation Sporadic idiopathic steroid-resistant nephrotic syndrome Familial gestational hyperthyroidism Bilateral multicystic dysplastic kidney Fabry disease

Provided care options 6

# Contact person
1
Pädiatrisches Stoffwechselzentrum
Dr. Sarah Grünert; Prof. Dr. Ute Spiekerkötter

0761 27043740
Email
Website
Sprechzeiten: Mo 13:30 - 17:00 Uhr, Mi 13:30 - 17:00 Uhr nach Vereinbarung.

2
Ambulanz für pädiatrische Genetik
PD Dr. Ekkehart Lausch

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

3
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.

4
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.

5
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.

6
Spezialambulanz für Mukoviszidose
Prof. Dr. Andrea Heinzmann

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

7.84299373626709148.003612864001084Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Last updated: 17.07.2023