Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Die autosomal dominante distale renale tubuläre Azidose ist eine Erkrankung die durch Mutationen des SLC4A1-Gen hervorgerufen werden. Das charakteristische Symptom ist die durch die tubuläre Funktionsstörung bedingte relativ leichte metabolische Azidose.
| Hypercalciurie | |
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Die Hypercalciurie ist bei der autosomal dominanten distalen renalen tubulären Azidose ein gelegentlicher, kein typischer Befund. |
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