Twelve-Year Follow-up of a Family With CKD Caused by an mtDNA Variant.
Lanping Jiang, Zhanmei Zhou, Shaozhen Feng et al.
✦ AI-curated · Sources linked
Case in brief
Five siblings with unaffected parents presented with hyperuricemia and chronic kidney disease; the proband died of end-stage kidney disease at age 16. Biopsies from three siblings showed sclerotic and atubular glomeruli with focal tubular atrophy, findings that made early pathological diagnosis difficult. Whole-exome sequencing later identified the mitochondrial DNA MT-TF m.616T>C variant, and examination demonstrated mitochondrial abnormalities in distal tubules and collecting ducts. During 12 years of follow-up, one sibling died of end-stage kidney disease, one required dialysis, two progressed from CKD stage G2 to G4, and one remained at G3.
What made this case unusual
Despite the same MT-TF variant and broadly similar renal pathology among siblings, long-term outcomes varied substantially, from stable CKD to dialysis or death from end-stage kidney disease.
Diagnostic / clinical pearl
Sclerotic and atubular glomeruli with tubular atrophy may make early recognition of mitochondrial tubulointerstitial kidney disease difficult; genetic testing can establish the diagnosis when biopsy findings are nonspecific.