Cargando…

Raised Serum Ferritin Concentration in Hereditary Hyperferritinemia Cataract Syndrome Is Not a Marker for Iron Overload

Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS wh...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yin, Dan, Kulhalli, Vasu, Walker, Ann P
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BlackWell Publishing Ltd 2014
Materias:	Clinical Observations in Hepatology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296220/ https://www.ncbi.nlm.nih.gov/pubmed/24003015 http://dx.doi.org/10.1002/hep.26681

Ejemplares similares

Determination of Serum Ferritin Glycosylation in Hyperferritinemia Associated to Iron Overload and Inflammation.
por: Gasser, Bethina Isasi
Publicado: (2009)

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome
por: Petroni, Roberta Cardoso, et al.
Publicado: (2017)

Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series
por: Kröger, Arne, et al.
Publicado: (2011)

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases
por: Celma Nos, Ferran, et al.
Publicado: (2021)

Dysmetabolic Hyperferritinemia: All Iron Overload Is Not Hemochromatosis
por: Makker, Jasbir, et al.
Publicado: (2015)

The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families
por: Perruccio, Katia, et al.
Publicado: (2013)

Hereditary Hyperferritinemia
por: Piperno, Alberto, et al.
Publicado: (2023)

Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee
por: Worth, Heidi A., et al.
Publicado: (2020)

Hyperferritinemia Is Associated with Insulin Resistance and Fatty Liver in Patients without Iron Overload
por: Brudevold, Robert, et al.
Publicado: (2008)

L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases
por: Cadenas, Beatriz, et al.
Publicado: (2019)

Hereditary Hyperferritinemia-Cataract Syndrome in a Family With HFE-H63D Mutation
por: Eris, Tansu, et al.
Publicado: (2023)

Body iron, serum ferritin, and nonalcoholic fatty liver disease
por: Shim, Jae-Jun
Publicado: (2012)

Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron)
por: Ong, Sim Yee, et al.
Publicado: (2015)

DETERMINATION OF FERRITIN AND HEMOSIDERIN IRON IN PATIENTS WITH NORMAL IRON STORES AND IRON OVERLOAD BY SERUM FERRITIN KINETICS
por: SAITO, HIROSHI, et al.
Publicado: (2012)

Duet procedure to achieve reversible trifocality in a young patient with hereditary hyperferritinemia-cataract syndrome
por: Khoramnia, Ramin, et al.
Publicado: (2021)

Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families
por: Zin, Olivia A., et al.
Publicado: (2023)

Evaluation of hyperferritinemia causes in rheumatology practice: a retrospective, single-center experience
por: Üsküdar Cansu, Döndü, et al.
Publicado: (2021)

Factors Influencing Measurement of Serum Iron Concentration in Dogs: Diurnal Variation and Hyperferritinemia
por: CHIKAZAWA, Seishiro, et al.
Publicado: (2013)

Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration
por: Muhoberac, Barry B., et al.
Publicado: (2019)

Transformation rate between ferritin and hemosiderin assayed by serum ferritin kinetics in patients with normal iron stores and iron overload
por: Saito, Hiroshi, et al.
Publicado: (2015)

Brazilian family with hyperferritinemia-cataract syndrome: case report
por: Alvarenga, Aline Morgan, et al.
Publicado: (2022)

Alcoholic Hepatitis Mimicking Iron Overload Disorders With Hyperferritinemia and Severely Elevated Transferrin Saturation: A Case Report
por: Munankami, Salina, et al.
Publicado: (2023)

Polyploidy spectrum: a new marker in HCC classification
por: Bou-Nader, Myriam, et al.
Publicado: (2020)

Hyperferritinemia
por: Kumachev, Alexander, et al.
Publicado: (2021)

Discrepancy between Serum Ferritin and Liver Iron Concentration in a Patient with Hereditary Hemochromatosis – The Value of T2* MRI
por: Al-Tikrity, Mustafa A., et al.
Publicado: (2020)

Hyperferritinemia in critically ill COVID-19 patients – Is ferritin the product of inflammation or a pathogenic mediator?
por: Gómez-Pastora, Jenifer, et al.
Publicado: (2020)

Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract
por: Bennett, Thomas M., et al.
Publicado: (2013)

Trends in indirect liver function marker testing in Wales from 2000 to 2017 and their association with age and sex: an observational study
por: Hill, Trevor Alexander, et al.
Publicado: (2022)

Ferritin But Not Iron Increases in Retina Upon Systemic Iron Overload in Diabetic and Iron-Dextran Injected Mice
por: Bonet, Aina, et al.
Publicado: (2023)

Iatrogenic Iron Overload in a Patient With Chronic Kidney Disease: Is There a Correlation Between Serum Ferritin and Liver Iron Concentration Determined by MRI T2*?
por: Ali, Mohammad, et al.
Publicado: (2020)

Less liver fibrosis marker increment in overweight chronic hepatitis B patients observed by age-adjusted Fibrosis-4 Index
por: Liu, Ta-Wei, et al.
Publicado: (2020)

Iron-Storage Protein Ferritin Is Upregulated in Endometriosis and Iron Overload Contributes to a Migratory Phenotype
por: Woo, Jeong-Hwa, et al.
Publicado: (2020)

Iron Overload in Chronic Kidney Disease: Less Ferritin, More T2(*)MRI
por: Nashwan, Abdulqadir J., et al.
Publicado: (2022)

Clinical outcomes at 12 months and risk of inflammatory bowel disease in patients with an intermediate raised fecal calprotectin: a ‘real-world’ view
por: McFarlane, Michael, et al.
Publicado: (2016)

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
por: Luscieti, Sara, et al.
Publicado: (2013)

Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas
por: Moest, Wouter, et al.
Publicado: (2018)

Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis
por: Tucci, Francesca, et al.
Publicado: (2018)

Clinical Remission of Delta‐Aminolevulinic Acid Dehydratase Deficiency Through Suppression of Erythroid Heme Synthesis
por: Neeleman, Rochus A., et al.
Publicado: (2019)

Effect of Plasmapheresis on Cholestatic Pruritus and Autotaxin Activity During Pregnancy
por: Heerkens, Marieke, et al.
Publicado: (2019)

Emergence of Oncogenic‐Enhancing Hepatitis B Virus X Gene Mutants in Patients Receiving Suboptimal Entecavir Treatment
por: Lin, Chih‐Lang, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_pjp8484rkkbulj8ljgqvkpjtib