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Spezifische Transportstörungen des proximalen Tubulus

Spezifische Transportstörungen des proxumalen Tubulus umfassen alle Störungen eines speziellen tubulären Transportes im proximalen Tubulus. Diese Störungen führen dann zu abnormen Urin oder Blutbefunden. Manche dieser Störungen verlaufen harmlos andere können zu schweren Organschäden führen. Meist genügt es in der Behandlung die renal übermäßig ausgeschiedene Substanz zu supplementieren.

Gliederung

Genetisch bedingte Störungen der proximalen Tubulusfunktion
Endozytosestörungen der proximalen Tubulusfunktion
Fanconi-Syndrom
Metabolische Störungen der proximalen Tubulusfunktion
Spezifische Transportstörungen des proximalen Tubulus
Aminoazidurie
Cystinurie
SLC3A1
SLC7A9
Dicarboxyl-Aminoazidurie
SLC1A1
Erythrocyten-Lactat-Transporter-Mangel
SLC16A1
Fanconi-Bickel-Syndrom
SLC2A2
Fanconi-Syndrom
Autosomal dominantes idiopathisches Fanconi-Syndrom
HNF4A
Fanconi-Syndrom Typ 1
Fanconi-Syndrom Typ 2
SLC34A1
Fanconi-Syndrom Typ 3
EHHADH
Hartnup-Erkrankung
SLC6A19
Hyperglycinurie
SLC36A2
SLC6A19
SLC6A20
Iminoglycinurie
SLC36A2
SLC6A19
SLC6A20
Lysinurische Proteinintoleranz
SLC7A7
Monocarboxylate-Transporter 1 Mangel
SLC16A1
SLC36A1
SLC3A2
SLC6A18
SLC7A8
Monosacchariduria
Fruktosurie
KHK
Glucose-Galactose-Malabsorption
SLC5A1
Renale Glucosurie
SLC5A2
Proximale renale tubuläre Azidose
SLC4A4
Renale Hypourikämie
SLC22A12
SLC2A9
Störungen der renalen Phosphattransporter
Hypophosphatämie mit Nephrolithiasis und Osteoporose Typ 1
SLC34A1
Hypophosphatämie mit Nephrolithiasis und Osteoporose Typ 2
SLC9A3R1
Hypophosphatämische Rachitis mit Hypercalciurie
SLC34A3
Idiopathische Kalzifikation der Basalganglien 1
SLC20A2

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