Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis

Witters, Peter; Pirenne, Jacques; Aerts, Raymond; Monbaliu, Diethard; Nevens, Frederik; Verslype, Chris; Laleman, Wim; Roskams, Tania; Desmet, Lars; Vlasselaers, Dirk; Mariën, Paul; Hoffman, Ilse; Lombaerts, Rita; Goethals, Eveline R.; Jaeken, Jaak; Meersseman, Wouter; Cassiman, David

doi:10.1007/s10545-010-9108-4

Cited by 5 publications

(4 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The RC activity was highly variable among different tissues. Normal RC activity and a number of RC defects (isolated and multicomplex deficiencies) were detected. Complex V defects were rarely reported in muscle and liver samples (Table ).…”

Section: Resultsmentioning

confidence: 99%

“…The RC activity was highly variable among different tissues. Normal RC activity 9,21,22,28,32,37,39,40,[44][45][46]51,52,[60][61][62][63][64] and a number of RC defects (isolated and multicomplex deficiencies) 9,13,20,21,30,32,37,38,40,46,[50][51][52]56,57,[61][62][63][64][65][66] were detected. Complex V defects were rarely reported in muscle and liver samples 20,46,51,57 (Table 4).…”

Section: Mitochondrial Respiratory Chain (Rc)mentioning

confidence: 99%

See 1 more Smart Citation

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Anagnostou

Taylor

et al. 2016

Epilepsia

View full text Add to dashboard Cite

We performed a systematic review of the clinical, molecular, and biochemical features of polymerase gamma (POLG)-related epilepsy and current evidence on seizure management. Patients were identified from a combined electronic search of articles using Ovid Medline and Scopus databases, published from January 2000 to January 2015. Only patients with a confirmed genetic diagnosis of POLG mutations were considered. Seventy-two articles were included for analysis. We identified 128 pathogenic variants in 372 patients who had POLG-related epilepsy. Among these, 84% of the cases harbored at least one of these pathogenic variants: p.Ala467Thr, p.Trp748Ser, and p.Gly848Ser. A bimodal distribution of disease onset was present in early childhood (<5 years) and adolescence; female patients had a later presentation than male patients (median age 4.00 vs. 1.83 years, p-value = 0.041). Focal-onset seizure including convulsive, myoclonus, and occipital seizures was common at the outset and was refractory to pharmacotherapy. We confirmed that homozygous pathogenic variants located in the linker region of POLG were associated with later age of onset and longer survival compared to compound heterozygous variants. In addition, biochemical and molecular heterogeneities in different tissues were frequently observed. POLG-related epilepsy is clinically heterogeneous, and the prognosis is, in part, influenced by the location of the variants in the gene and the presence of hepatic involvement. Normal muscle and fibroblast studies do no exclude the diagnosis of POLG-related mitochondrial disease and direct sequencing of the POLG gene should be the gold standard when investigating suspected cases.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Mitochondrial Respiratory Chain (Rc)mentioning

confidence: 99%

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Anagnostou

Taylor

et al. 2016

Epilepsia

View full text Add to dashboard Cite

show abstract

“…Microvesicular and macrovesicular steatosis are a common feature, as seen in cases 1, 2, and 4, even in the early stages without associated elevated liver function tests. We recently described a previously asymptomatic 6-month-old baby with acute liver failure showing clear features of autoimmune hepatitis on liver biopsy, but without autoantibodies or elevated immunoglobulin G [20]. Pseudoacinar formation is noted to be prominent in Navajo neurohepatopathy [18], and hemosiderosis of the liver is noted among other in MDS [19].…”

Section: Diagnosismentioning

confidence: 98%

“…A Cochrane analysis of 2006 concluded that there is no clear evidence suggesting a benefit of any medical therapy in mitochondrial disorders [20]. A causal treatment does not exist for most mitochondrial diseases, but symptomatic therapy with antiepileptics, pacemaker implantation, or nutritional support can relieve some of the symptoms.…”

Section: Therapymentioning

confidence: 99%

Mitochondrial hepatopathy in adults

Cloots¹,

Verbeek²,

Orlent³

et al. 2013

European Journal of Gastroenterology & Hepatology

Self Cite

View full text Add to dashboard Cite

show abstract

Detection of polyreactive immunoglobulin G facilitates diagnosis in children with autoimmune hepatitis

Engel,

Diestelhorst,

Hupa-Breier

et al. 2024

Hepatol Int

View full text Add to dashboard Cite

Objective The detection of autoantibodies is essential to diagnose autoimmune hepatitis (AIH). Particularly in children, specificity of autoantibodies decreases due to lower titers being diagnostic and being present not only in AIH but also in other liver diseases. Recently, quantification of polyreactive IgG (pIgG) for detection of adult AIH showed the highest overall accuracy compared to antinuclear antibodies (ANA), anti-smooth muscle antibodies (anti-SMA), anti-liver kidney microsomal antibodies (anti-LKM) and anti-soluble liver antigen/liver pancreas antibodies (anti-SLA/LP). We aimed to evaluate the diagnostic value of pIgG for pediatric AIH. Design pIgG, quantified using HIP1R/BSA coated ELISA, and immunofluorescence on rodent tissue sections were performed centrally. The diagnostic fidelity to diagnose AIH was compared to conventional autoantibodies of AIH in training and validation cohorts from a retrospective, European multi-center cohort from nine centers from eight European countries composed of existing biorepositories from expert centers (n = 285). Results IgG from pediatric AIH patients exhibited increased polyreactivity to multiple protein and non-protein substrates compared to non-AIH liver diseases and healthy children. pIgG had an AUC of 0.900 to distinguish AIH from non-AIH liver diseases. pIgG had a 31–73% higher specificity than ANA and anti-SMA and comparable sensitivity that was 6–20 times higher than of anti-SLA/LP, anti-LC1 and anti-LKM. pIgG had a 21–34% higher accuracy than conventional autoantibodies, was positive in 43–75% of children with AIH and normal IgG and independent from treatment response. Conclusion Detecting pIgG improves the diagnostic evaluation of pediatric AIH compared to conventional autoantibodies, primarily owing to higher accuracy and specificity. Graphical Abstract

show abstract

Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis

Cited by 5 publications

References 1 publication

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Mitochondrial hepatopathy in adults

Detection of polyreactive immunoglobulin G facilitates diagnosis in children with autoimmune hepatitis

Contact Info

Product

Resources

About