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.
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OMIM.ORG article Omim 230400 |