Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports

Tayeba Roper,Mark Harber,Gareth D Jones ,Robert D S Pitceathly ,Alan D Salama

doi:10.1186/s12882-020-02002-5

Abstract

BackgroundUp to one third of patients on renal replacement programmes have an unknown cause of kidney disease, and the diagnosis may only be established following renal transplantation when the disease recurs or if new extra-renal symptoms develop.Case presentationWe present two patients who presented with progressive chronic kidney disease of unknown cause. Both patients underwent successful renal transplantation but subsequently developed multisystem abnormalities, and were ultimately diagnosed with mitochondrial cytopathy 10–15 years following transplantation.ConclusionsMitochondrial cytopathies are rare inborn errors of metabolism that should be considered in adults with renal impairment, especially in those with a family history of kidney or other multisystem disease. The widespread availability of genetic testing provides the potential for earlier diagnoses, thereby enhancing management decisions, anticipation of complications, avoidance of mitotoxic drugs, and informed prognosis prediction.

Highlights

Up to one third of patients on renal replacement programmes have an unknown cause of kidney disease, and the diagnosis may only be established following renal transplantation when the disease recurs or if new extra-renal symptoms develop.Case presentation: We present two patients who presented with progressive chronic kidney disease of unknown cause
Mitochondrial cytopathies (MC), known as primary mitochondrial diseases (PMD), are a rare heterogenous group of conditions, defined by sporadic or inherited mutations in either mitochondrial DNA or nuclear DNA, that encode for proteins required for mitochondrial function [1]
We report two patients presenting with renal disease in whom the diagnosis of MC was made several years after their initial presentations with end stage renal disease (ESRD), following the development of progressive, nonrenal, multisystem manifestations of mitochondrial dysfunction

Summary

Conclusions

Mitochondrial cytopathies are rare inborn errors of metabolism that should be considered in adults with renal impairment, especially in those with a family history of kidney or other multisystem disease.

Findings

Background

Discussion and conclusions