Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.

Abstract

We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11 years with a biopsy-proven kidney involvement that progressed to end-stage renal disease at age 21 years. Mutations of mitochondrial DNA (mtDNA) are maternally inherited and lead to mitochondrial cytopathies with predominant neurologic manifestations: psychomotor retardation, epilepsy, ataxia, neuropathy, and myopathy. Given the ubiquitous nature of mitochondria, cellular dysfunction can also appear in tissues with high metabolic turnover; thus, there can be cardiac, digestive, ophthalmologic, and kidney complications. Mutations in the MT-ATP6 gene of mtDNA have been shown to cause NARP syndrome without renal involvement. We report a patient who had NARP syndrome diagnosed at age 11 years in whom glomerular proteinuria was present very early after diagnosis. Although neurologic manifestations were stable over time, he developed worsening proteinuria and kidney function. He started dialysis therapy at age 21 years. Kidney biopsy confirmed the mitochondrial cytopathy histologically, with abnormal mitochondria seen on electron microscopy. The MT-ATP6 gene mutation was detected in the kidney biopsy specimen.

• Authors: Sandrine Lemoine, Marine Panaye, Maud Rabeyrin, Elisabeth Errazuriz-Cerda, Bénédicte Mousson de Camaret, Philippe Petiot, Laurent Juillard, Fitsum Guebre-Egziabher
• Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation (Am J Kidney Dis) Vol. 71 Issue 5 Pg. 754-757 (05 2018) ISSN: 1523-6838 [Electronic] United States
• PMID: 29224958 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2017 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Chemical References

• MT-ATP6 protein, human
• Mitochondrial Proton-Translocating ATPases

Topics

• Adolescent
• Ataxia (physiopathology)
• Biopsy, Needle
• Child
• Disease Progression
• Follow-Up Studies
• Genetic Predisposition to Disease
• Humans
• Immunohistochemistry
• Kearns-Sayre Syndrome (physiopathology)
• Kidney Diseases (pathology, physiopathology, therapy)
• Male
• Mitochondrial Myopathies (diagnosis, genetics, physiopathology, therapy)
• Mitochondrial Proton-Translocating ATPases (genetics)
• Rare Diseases
• Renal Dialysis
• Retinitis Pigmentosa (diagnosis, genetics, physiopathology, therapy)
• Treatment Outcome
• Young Adult