eISSN: 2084-9869
ISSN: 1233-9687
Polish Journal of Pathology
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SCImago Journal & Country Rank
3/2018
vol. 69
 
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abstract:
Original paper

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

Maciej Pronicki, Dorota Piekutowska-Abramczuk, Dariusz Rokicki, Katarzyna Iwanicka-Pronicka, Wiesława Grajkowska

Pol J Pathol 2018; 69 (3): 292-298
Online publish date: 2018/11/20
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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.
keywords:

mitochondrial DNA depletion, liver failure, POLG1, DGUOK, MPV17

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