Journal of Pediatric Hematology/Oncology 2014-07-01

Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia.

Fani Tsantoula, Anna Kioumi, Anastasios E Germenis, Matthaios Speletas

文献索引：J. Pediatr. Hematol. Oncol. 36(5) , e304-6, (2014)

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摘要

A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. A detailed family history and laboratory examinations revealed the presence of early-onset cataract in her 33-year-old mother, who also displayed hyperferritinemia (633 ng/mL), similar to other family members. Genetic testing confirmed the diagnosis of hereditary hyperferritinemia cataract syndrome (HHCS), demonstrating a C39>G (c.-161C>G) mutation into FTL gene. HHCS should be considered in the differential diagnosis of childhood hyperferritinemia, especially in the presence of normal transferrin saturation.