Clinicopathologic Features of Mitochondrial Nephropathy.

ABSTRACT:

Introduction

The clinicopathologic characteristics of nephropathy associated with mitochondrial disease (MD) remain unknown. We retrospectively analyzed a cohort of patients with proteinuria, decreased glomerular filtration rate, or Fanconi syndrome who had a genetic mutation confirmed as the cause of MD, defined as mitochondrial nephropathy.

Methods

This nationwide survey included 757 nephrology sections throughout Japan, and consequently, data on 81 cases of mitochondrial nephropathy were collected.

Results

The most common renal manifestation observed during the disease course was proteinuria. Hearing loss was the most common comorbidity; a renal-limited phenotype was observed only in mitochondrial DNA (mtDNA) point mutation and COQ8B mutation cases. We found a medi

SUBMITTER: Imasawa T 

PROVIDER: S-EPMC8897298 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature