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Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

ABSTRACT: BACKGROUND & AIMS: Classical ferroportin disease is characterized by hyperferritinemia, normal transferrin saturation, and iron overload in macrophages. A non-classical form is characterized by additional hepatocellular iron deposits and a high transferrin saturation. Both forms demonstrate autosomal dominant transmission and are associated with ferroportin gene (SLC40A1) mutations. SLC40A1 encodes a cellular iron exporter expressed in macrophages, enterocytes, and hepatocytes. The aim of the analysis is to determine the penetrance of SLC40A1 mutations and to evaluate in silico tools to predict the functional impairment of ferroportin mutations as an alternative to in vitro studies. METHODS: We conducted a systematic review of the literature and meta-analysis of the biochemical presentation, genetics, and pathology of ferroportin disease. RESULTS: Of the 176 individuals reported with SLC40A1 mutations, 80 were classified as classical phenotype with hyperferritinemia and normal transferrin saturation. The non-classical phenotype with hyperferritinemia and elevated transferrin saturation was present in 53 patients. The remaining patients had normal serum ferritin or the data were reported incompletely. Despite an increased hepatic iron concentration in all biopsied patients, significant fibrosis or cirrhosis was present in only 11%. Hyperferritinemia was present in 86% of individuals with ferroportin mutations. Bio-informatic analysis of ferroportin mutations showed that the PolyPhen score has a sensitivity of 99% and a specificity of 67% for the discrimination between ferroportin mutations and polymorphisms. CONCLUSIONS: In contrast to HFE hemochromatosis, ferroportin disease has a high penetrance, is genetically heterogeneous and is rarely associated with fibrosis. Non-classical ferroportin disease is associated with a higher risk of fibrosis and a more severe overload of hepatic iron.

SUBMITTER: Mayr R

PROVIDER: S-EPMC2956830 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature

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Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

Mayr Roman R Janecke Andreas R AR Schranz Melanie M Griffiths William J H WJ Vogel Wolfgang W Pietrangelo Antonello A Zoller Heinz H

Journal of hepatology 20100717 5

<h4>Background & aims</h4>Classical ferroportin disease is characterized by hyperferritinemia, normal transferrin saturation, and iron overload in macrophages. A non-classical form is characterized by additional hepatocellular iron deposits and a high transferrin saturation. Both forms demonstrate autosomal dominant transmission and are associated with ferroportin gene (SLC40A1) mutations. SLC40A1 encodes a cellular iron exporter expressed in macrophages, enterocytes, and hepatocytes. The aim of ...[more]

PMID: 20691492

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Project description:Parkinson's disease (PD) is the second-most-common chronic and progressive neurodegenerative disease. The long-term use of levodopa leads to a loss of efficacy and to complications. Therefore, many patients with PD have turned to complementary therapies to help relieve their symptoms. Acupuncture is most commonly used as a complementary therapy in patients with PD. This paper presents a systematic review and meta-analysis of the effects of acupuncture for patients with PD. This study was performed to summarize and evaluate evidence regarding the effectiveness of acupuncture in the relief of PD symptoms.Seven databases, namely, MEDLINE, EMBASE, the Cochrane Library, the China National Knowledge Infrastructure [CNKI], and three Korean medical databases, were searched from their inception through August 2015 without language restrictions. Randomized controlled trials (RCTs) were included if they contained reports of acupuncture compared with no treatment and conventional treatment alone or acupuncture plus conventional treatment compared with conventional treatment alone for PD symptoms. Assessments were performed with the unified PD rating scales (UPDRS) I, II, III, and IV and the total score, the Webster scale, and effectiveness rating. Methodological quality was assessed using the Physiotherapy Evidence Database (PEDro) scale and the Cochrane risk of bias (ROB).In all, 982 potentially relevant articles were identified; 25 RCTs met our inclusion criterion, 19 of 25 RCTs were high-quality studies (i.e., a score of 6 or higher). The included RCTs showed favorable results for acupuncture plus conventional treatment compared with conventional treatment alone in the UPDRS II, III, and IV and the total score. Acupuncture was effective in relieving PD symptoms compared with no treatment and conventional treatment alone, and acupuncture plus conventional treatment had a more significant effect than conventional treatment alone.We performed a systematic review and meta-analysis to evaluate the use of acupuncture for relief of PD symptoms and found that acupuncture has significant positive effects. Acupuncture can be considered as a combination treatment with conventional treatment for patients with PD. Further studies on this topic should be carried out according to rigorous methodological designs in both the East and the West.

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Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

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Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

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