Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study.
Summary of "Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study."
Hyperferritinemia is a common finding in clinical practice. This condition can be congenital or acquired, although it is not always associated with iron overload. Genetic hyperferritinemia is associated with iron overload, hereditary hemochromatosis, or cataracts that progress without iron overload (hereditary hyperferritinemia-cataract syndrome). Metabolic syndrome is associated with hyperferritinemia and mild iron overload, with no increase in transferrin saturation. We report a family with hyperferritinemia. PATIENTS AND
We present the study of a family with dual hyperferritinemia (congenital and acquired) and an analysis of the genes involved in iron metabolism.
Patients with hereditary hyperferritinemia-cataract syndrome have the mutation c.-167C>T in the FTL gene; patients with metabolic syndrome present a new mutation in the TFR2 gene (c.1259G>A, p.Arg420His).
The phenotypic and genotypic diversity of hyperferritinemia makes it a diagnostic challenge for clinicians. Basic research and clinical research should be combined to ensure better patient care.
Unidad de Ferropatología y Radicalosis, Departamento de Medicina Interna, Hospital General Universitario Gregorio Marañón, Facultad de Medicina, Universidad Complutense, Madrid, España.
This article was published in the following journal.
Name: Medicina clinica
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21524769
- DOI: http://dx.doi.org/10.1016/j.medcli.2011.02.023
Two 8- and 9-year-old brothers were referred to the Pediatric Oncology Unit, Perugia General Hospital, because of hyperferritinemia. Both had a history of bilateral cataract and epilepsy. Genetic inve...
CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of a...
We aimed to investigate whether glucocorticoid receptor gene polymorphisms are associated with clinical and metabolic profiles in patients with polycystic ovary syndrome. Polycystic ovary syndrome is...
Bartter syndrome consists a group of rare autosomalrecessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic hyperaldoster...
Primary spontaneous pneumothorax usually occurs as a sporadic event, but may be clustered in certain families with an underlying inherited disorder. Birt-Hogg-Dubι (BHD) syndrome is a rare autosomal...
The metabolic syndrome is a highly prevalent disorder, which causes atherosclerotic cardiovascular disease and is closely associated with insulin resistance. The alteration of the secretio...
The purpose of this study is to find a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP.
RATIONALE: The identification of gene mutations in young patients with pleuropulmonary blastoma syndrome may allow doctors to better understand the genetic processes involved in the develo...
The purpose of the study is to determine whether antipsychotic treatment is influence psychiatric patients due to endocrine and metabolic status and a quality of life. The investigators...
Parkinson's disease is a frequent neurodegenerative disorder. Genetic forms of the disease have been recently identified. The monogenic form due to parkin mutation is responsible for many...
Medical and Biotech [MESH] Definitions
A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).
A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.
Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 22q11.2 or mutation in the TBX1 gene.
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)