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Kidney tubulopathy-dilated cardiomyopathy syndrome

ORPHA:73224· ICD-10 N25.8

Definition

A rare renal disease characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Childhood