• 作者：Alejandro del Castillo-Rueda^a ; ^{adelcastillo.hgugm@salud.madrid.org} ; Marí ; a Isabel Moreno-Carralero^b ; Nuria Cuadrado-Grande^b ; Manuel Mé ; ndez^b ; Marí ; a Josefa Morá ; n-Jimé ; nez^b
• 关键词：Hiperferritinemia ; Hemocromatosis hereditaria ; Sí ; ndrome hereditario de hiperferritinemia y cataratas ; Sí ; ndrome metabó ; lico ; Receptor 2 transferrina ; Cadena ligera de ferritina
• 刊名：Medicina Cl¨ªnica
• 出版年：2011
• 出版时间：11 June 2011
• 年：2011
• 卷：137
• 期：2
• 页码：68-72
• 全文大小：276 K

Background and objetives

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 methods

We present the study of a family with dual hyperferritinemia (congenital and acquired) and an analysis of the genes involved in iron metabolism.

Results

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).

Conclusions

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.