Die renal-tubuläre Azidose Typ 3 ist eine autosomal rezessive Erkrankung, welche auf ein Defekt der Carboanhydrase 2,Gen CA2, zurückzuführen ist. Sie ist gekennzeichnet durch eine sowohl im proximalen, wie auch im distalen Tubulus gestörte Säuresekretion, eine Osteopetrose Typ 3 und zerebrale Verkalkungen.
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OMIM.ORG article Omim 259730 |
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Orphanet article Orphanet ID 2785 |