Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Proximale renale tubuläre Azidose

Die autosomal rezessive proximale tubuläre Azidose ist eine metablische Azidose, die durch massive renale Verluste von Bicarbonat entsteht. Mutationen des SLC4A4-Gens sind verantwortlich. Aus dem Verlust von Bicarbonat resultiert eine Hyperchlorämie. Im Unterschied zur distalen renalen tubulären Azidose können die Betroffenen einen sauren Harn produzieren. Weisere Symptome sind Augenveränderungen und mentale Retardierung.

Gliederung

Renale tubuläre Azidose
Distale renale tubuläre Azidose (autosomal dominant)
Distale renale tubuläre Azidose (autosomal rezessiv)
Distale renale tubuläre Azidose mit Schwerhörigkeit (autosomal rezessiv)
Gemischte renale tubuläre Azidose mit Osteopetrose
Proximale renale tubuläre Azidose
SLC4A4
Renale tubuläre Azidose mit Arthrogrypose

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