Introduction. Mutations in the promoter region of ferritin light gene can induce an uncontrolled over expression of this protein. Consequently, ferritin is found in serum at very high levels (~1000 ng/mL) and it accum...Introduction. Mutations in the promoter region of ferritin light gene can induce an uncontrolled over expression of this protein. Consequently, ferritin is found in serum at very high levels (~1000 ng/mL) and it accumulates in the crystalline lens, generating cataracts. This entity is known as hyperferritin and hereditary cataract syndrome (HHCS) which is inherited in an autosomal dominant manner. Case Presentation. We describe a family affected by HHCS. The proband was identified among subjects submitted to a biological screening for hemochromatosis. He had very high levels of serum ferritin (~900 ng/mL) with normal transferrin saturation (TS). The proband has a single H63D HFE-gene mutation and normal HAMP-gene. He was submitted to periodical phlebotomies that induced anemia and a decrease in TS but no changes on serum ferritin levels. Analyses of promoter region of ferritin-light chain gene showed a 39 C > T mutation, responsible for HHCS. The proband’s sister carried also this mutation. Both subjects had developed cataracts. Discussion. Similar to the first family described carrying this syndrome and to other cases reported, the proband was erroneously submitted to phlebotomies. Clinical consequences are illustrated in this report. HHCS is an infrequent entity which has to be correctly identified. The unique therapeutic approach to this syndrome must be cataract surgery.展开更多
文摘Introduction. Mutations in the promoter region of ferritin light gene can induce an uncontrolled over expression of this protein. Consequently, ferritin is found in serum at very high levels (~1000 ng/mL) and it accumulates in the crystalline lens, generating cataracts. This entity is known as hyperferritin and hereditary cataract syndrome (HHCS) which is inherited in an autosomal dominant manner. Case Presentation. We describe a family affected by HHCS. The proband was identified among subjects submitted to a biological screening for hemochromatosis. He had very high levels of serum ferritin (~900 ng/mL) with normal transferrin saturation (TS). The proband has a single H63D HFE-gene mutation and normal HAMP-gene. He was submitted to periodical phlebotomies that induced anemia and a decrease in TS but no changes on serum ferritin levels. Analyses of promoter region of ferritin-light chain gene showed a 39 C > T mutation, responsible for HHCS. The proband’s sister carried also this mutation. Both subjects had developed cataracts. Discussion. Similar to the first family described carrying this syndrome and to other cases reported, the proband was erroneously submitted to phlebotomies. Clinical consequences are illustrated in this report. HHCS is an infrequent entity which has to be correctly identified. The unique therapeutic approach to this syndrome must be cataract surgery.
