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Mitochondrial neurogastrointestinal encephalomyopathy treated with peritoneal dialysis and bone marrow
Claudia Ariaudo1, Germana Daidola, Bruno Ferrero
1SCU Nephrology, Dialysis and Transplantation, Department of Internal Medicine, Molinette Hospital, Turin, Italy.
Abstract:
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare disease caused by thymidine phosphorylase deficiency which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). It lacks an established treatment and the prognosis is traditionally poor. We report a case of a young female patient with normal renal function and MNGIE treated by peritoneal dialysis (PD) and allogeneic bone marrow transplantation (BMT). PD was effective in reducing dThd and dUrd plasma levels and in improving clinical symptoms. To our knowledge, this is the first report on the beneficial effects of PD regarding MNGIE neurological symptoms. PD, therefore, should be considered especially in medically compromised patients as a supportive treatment to improve clinical conditions before BMT.
Insights
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) treatment improved with peritoneal dialysis (PD), reducing toxic metabolite levels and neurological symptoms. PD offers a supportive option for MNGIE patients awaiting bone marrow transplantation (BMT).
Area of Science:
- Biochemistry
- Genetics
- Nephrology
Background:
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, severe genetic disorder.
- Caused by thymidine phosphorylase deficiency, leading to toxic thymidine (dThd) and deoxyuridine (dUrd) accumulation.
- MNGIE lacks effective treatments and has a poor prognosis.
Observation:
- A young female patient with MNGIE and normal renal function was treated.
- Treatment involved peritoneal dialysis (PD) and allogeneic bone marrow transplantation (BMT).
Findings:
- Peritoneal dialysis effectively lowered plasma dThd and dUrd levels.
- PD significantly improved MNGIE-related clinical symptoms, including neurological manifestations.
- This is the first report detailing PD's benefits for MNGIE neurological symptoms.
Implications:
- Peritoneal dialysis is a viable supportive therapy for MNGIE patients.
- PD can improve clinical status and manage toxic metabolite levels before BMT.
- Consider PD for medically compromised MNGIE patients requiring BMT.
