Renal manifestations of primary mitochondrial disorders

Biomedical Reports
J Finsterer, Fulvio Alexandre Scorza

Abstract

The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms. Among the syndromic MIDs, renal involvement has been most frequently reported in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome, Kearns-Sayre syndrome, Leigh syndrome and mitochondrial depletion syndromes. Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia...Continue Reading

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Citations

Jun 8, 2018·Internal Medicine·Ryo KodaIchiei Narita
Oct 1, 2019·Molecular Genetics & Genomic Medicine·Brian J ShayotaMir Reza Bekheirnia
Nov 13, 2019·Clinical Genetics·Hugo BakisClaire Rigothier
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Aug 1, 2020·Frontiers in Physiology·Mengyuan GeAlessia Fornoni
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Feb 3, 2021·Naunyn-Schmiedeberg's Archives of Pharmacology·Vahid GhanbarinejadReza Heidari
Oct 12, 2021·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·James T NugentJulie E Goodwin
Oct 20, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Hua TengLingqian Wu

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