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Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis
- Source :
- Polish Journal of Pathology, Vol 69, Iss 3, Pp 292-298 (2018)
- Publication Year :
- 2018
- Publisher :
- Termedia Publishing House, 2018.
-
Abstract
- Mitochondrial DNA depletion consisting of the systemic reduction of mtDNA copy number in cells may have a heterogenous genetic basis, resulting from a pathogenic change in the nuclear genes involved in mtDNA synthesis. The mode of inheritance is autosomal recessive. Severe hepatocerebral disease represents one of many different clinical forms of so-called mitochondrial depletion syndrome (MDS). We present the liver histopathology of 13 children who eventually died in the course of hepatocerebral MDS confirmed molecularly, harbouring mutations of DGUOK , MPV17 , and POLG genes. Material comprising eight autopsy and five liver biopsy specimens showed a moderately reproducible pattern of parenchymal damage, which we consider potentially helpful in the differential diagnosis and planning of the diagnostic investigation in families of children who died due to early-onset acute liver failure and encephalopathy.
- Subjects :
- mitochondrial DNA depletion
liver failure
POLG1
DGUOK
MPV17
Medicine
Subjects
Details
- Language :
- English
- ISSN :
- 12339687 and 20849869
- Volume :
- 69
- Issue :
- 3
- Database :
- Directory of Open Access Journals
- Journal :
- Polish Journal of Pathology
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.48519232d2e481dadce4a589edfd244
- Document Type :
- article
- Full Text :
- https://doi.org/10.5114/pjp.2018.79549