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Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement

Publication at First Faculty of Medicine |
2021

Abstract

In the current report, we describe a family affected by a mitochondrially inherited tubulointerstitial kidney disease. Despite a homoplasmic mitochondrial alteration detected in the blood, the only signs and symptoms present were related to the kidney.