Renal pathology in children with mitochondrial diseases

We studied renal involvement in 42 children with mitochondrial diseases (MDs). The diagnosis of MD was established by morphological, biochemical, and molecular genetic criteria. Renal disease was considered when patients had renal failure, nephrotic syndrome, Fanconi's syndrome or any symptomat...

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Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 2005-09, Vol.20 (9), p.1299-1305
Main Authors: Martín-Hernández, Elena, García-Silva, M Teresa, Vara, Julia, Campos, Yolanda, Cabello, Ana, Muley, Rafael, Del Hoyo, Pilar, Martín, Miguel Angel, Arenas, Joaquín
Format: Article
Language:English
Subjects:
Adolescent
Biopsy
Child
Child, Preschool
Children
Complications and side effects
Diagnosis
Female
Health aspects
Humans
Infant
Infant, Newborn
Kidney diseases
Kidney Diseases - diagnosis
Kidney Diseases - etiology
Male
Metabolism
Mitochondrial diseases
Mitochondrial Diseases - complications
Mitochondrial DNA
Morphology
Phosphorylation
Risk factors
Uric acid
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Summary:We studied renal involvement in 42 children with mitochondrial diseases (MDs). The diagnosis of MD was established by morphological, biochemical, and molecular genetic criteria. Renal disease was considered when patients had renal failure, nephrotic syndrome, Fanconi's syndrome or any symptomatic renal alteration. Mild tubular disorder was established if they had abnormal laboratory findings with no apparent clinical symptom. Renal involvement was found in 21 children (50%), of whom 8 had an apparent clinical picture and 13 a mild tubular disorder. Five patients with renal disease showed Debré-Toni-Fanconi's syndrome, 2 of them with decreased glomerular filtration rate (GFR). One case had nephrotic syndrome, another one presented decreased GFR, and the last one had a neurogenic bladder and bilateral hydronephrosis. Patients with mild renal disease showed tubular dysfunction with normal GFR. Renal involvement is frequent and present in about half of the children with MD. Thus, studies for evaluating kidney function should be performed on children with MD. Conversely, patients with tubulopathy of unknown origin or progressive renal disease should be investigated for the existence of MD, especially if associated with involvement of other organs or tissues. Southern blot analysis to search for large-scale mitochondrial DNA (mtDNA) rearrangements should be performed for patients with MD and kidney involvement.
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-005-1948-z