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2017 ; 6
(5
): 487-494
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Renal manifestations of primary mitochondrial disorders
#MMPMID28515908
Finsterer J
; Scorza FA
Biomed Rep
2017[May]; 6
(5
): 487-494
PMID28515908
show ga
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, pyruvate dehydrogenase deficiency, growth retardation,
aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and
hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis
syndrome. The present study proposes that the frequency of renal involvement in
MIDs is probably underestimated. Diagnosis of renal involvement follows general
guidelines and treatment is symptomatic. Thus, renal manifestations of primary
MIDs require recognition and appropriate management, as they determine the
outcome of MID patients.