Peritoneal Dialysis for End-Stage Kidney Disease due to Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A Case Report.
CAPD is a feasible long-term dialysis modality for patients with kidney failure secondary to MELAS, as steady-state serum lactate remained stable despite theoretical concerns regarding lactate load from peritoneal dialysis fluids.
Key Findings
Background
A diagnosis of MELAS was confirmed in a 23-year-old male who initially presented with sepsis, severe lactic acidosis, and encephalopathy secondary to childhood Focal Segmental Glomerulosclerosis.
The patient was a 23-year-old male with kidney failure secondary to childhood Focal Segmental Glomerulosclerosis.
Diagnosis was confirmed by muscle biopsy and identification of the m.3243A>G mutation.
The patient presented acutely with sepsis, severe lactic acidosis, and encephalopathy.
The case highlights 'the diagnostic difficulties of this rare disease.'
Methods
Continuous Veno-Venous Hemofiltration (CVVH) was used to stabilize the patient's acute condition before a long-term renal replacement therapy was selected.
CVVH was employed during the acute decompensation phase.
The authors note that 'acute decompensation requires aggressive management.'
This acute stabilization preceded the diagnostic workup that confirmed MELAS.
Results
The patient demonstrated poor tolerance to intermittent haemodialysis due to MELAS-associated cardiomyopathy.
MELAS-associated cardiomyopathy was identified as the reason for poor tolerance to intermittent haemodialysis.
This intolerance necessitated consideration of an alternative long-term renal replacement modality.
The case highlights 'the challenges in selecting a long-term renal replacement therapy' in MELAS patients.
Results
Despite theoretical concerns about lactate load from lactate-buffered peritoneal dialysis fluids, steady-state serum lactate remained stable on Continuous Ambulatory Peritoneal Dialysis (CAPD).
The use of lactate-buffered peritoneal dialysis fluids in MELAS patients 'remains controversial.'
Steady-state serum lactate was described as remaining stable on CAPD.
The patient achieved 'good functional recovery' on CAPD.
CAPD was concluded to be 'a feasible long-term dialysis modality for patients with kidney failure secondary to MELAS.'
What This Means
This research describes the case of a 23-year-old man with kidney failure who was discovered to have a rare genetic condition called MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes). MELAS is caused by a mutation in mitochondrial DNA and affects how the body produces energy, often leading to a dangerous buildup of lactic acid. The diagnosis was particularly challenging because his kidney disease had originally been attributed to a childhood condition called Focal Segmental Glomerulosclerosis, and MELAS was only confirmed after a serious illness involving infection, dangerously high lactic acid levels, and brain complications.
A key challenge in this case was choosing the right long-term dialysis method. Standard intermittent hemodialysis was poorly tolerated because MELAS had damaged the patient's heart. Peritoneal dialysis — where the lining of the abdomen is used to filter the blood — was considered, but there was concern that the lactate-containing fluids used in this type of dialysis might worsen lactic acid buildup, which is already a core problem in MELAS. Despite these concerns, the patient's blood lactate levels remained stable on Continuous Ambulatory Peritoneal Dialysis (CAPD), and he recovered well functionally.
This research suggests that CAPD can be a safe and practical long-term kidney replacement option for people with MELAS-related kidney failure, even though the fluids used contain lactate. It also underscores how difficult MELAS can be to diagnose and how its complications — particularly heart involvement — can influence which treatments are safe to use. Given how rare MELAS is, this single case report adds valuable real-world evidence to guide clinicians facing similar difficult treatment decisions.
Chan Z, Chan K, Lam C, Law W, Pak W, Wong Y, et al.. (2026). Peritoneal Dialysis for End-Stage Kidney Disease due to Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A Case Report.. Nephrology (Carlton, Vic.). https://doi.org/10.1111/nep.70283