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