Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature
Publication year
2019Source
Clinical Kidney Journal, 12, 6, (2019), pp. 840-846ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics
IQ Healthcare
Nephrology
Laboratory Medicine
Internal Medicine
Journal title
Clinical Kidney Journal
Volume
vol. 12
Issue
iss. 6
Page start
p. 840
Page end
p. 846
Subject
Radboudumc 11: Renal disorders RIHS: Radboud Institute for Health Sciences; Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life SciencesAbstract
Background: Renal involvement in patients with the m.3243A>G mutation may result in end-stage renal disease (ESRD) requiring renal replacement therapy. Although kidney transplantations have been performed in a small number of patients, short- and long-term follow-up data are lacking. Methods: We describe five patients with the m.3243A<G mutation who received a kidney transplant, including follow-up data up to 13 years. We also summarize all cases (n = 13) of kidney transplantation in m.3243A>G carriers described in the literature. Results: Proteinuria with or without renal failure was the first clinical presentation of renal involvement in 13 of 18 (72%) patients. Focal segmental glomerulosclerosis (FSGS) was found in 9 of 13 (69%) biopsies. Sixteen of 18 (84%) patients developed hearing loss. All patients were diagnosed with diabetes mellitus, of whom eight (44%) developed the disease after transplantation. All patients with reported follow-up data (13/18) had stable kidney function from 6 months to 13 years of follow-up after transplantation. Conclusions: Renal involvement in carriers of the m.3243A>G mutation most commonly leads to proteinuria and FSGS and may lead to ESRD. Proper recognition of the mitochondrial origin of the renal disease in these patients is important for adequate treatment selection and suitable supportive care. This case series and review of the available literature on long-term follow-up after kidney transplantation shows it is feasible for non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype carriers of the m.3243A>G mutation to be considered for kidney transplantation in case of ESRD. These patients should not be excluded from transplant solely for their mitochondrial diagnosis.
This item appears in the following Collection(s)
- Academic publications [204107]
- Electronic publications [102376]
- Faculty of Medical Sciences [80531]
- Open Access publications [71020]
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