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Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms
Author(s) -
Rusticeanu M.,
Zimmer V.,
Schleithoff L.,
Wonney K.,
Viera J.,
Zimmer A.,
Hübschen U.,
Bohle R.M.,
Grünhage F.,
Lammert F.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12145
Subject(s) - medicine , university hospital , family medicine , pediatrics
To the Editor : We report a 39-year-old man from India with severe hepatic iron overload (grade 3–4) without signs of inflammation or fibrosis on liver biopsy (Fig. 1a), as well as recently diagnosed insulin-dependent diabetes mellitus. He had no risk factors for chronic liver disease. His older brother (44 years) was diagnosed with insulin-dependent diabetes 7 years ago. Laboratory findings showed mild hypochromic anemia with reduced serum iron concentration (34 μg/dl, normal 59–158 μg/dl), high ferritin level (1273 ng/ml,normal 30–400 ng/dl) but low transferrin saturation (11%, normal 16–45%), and complete absence of serum copper and ceruloplasmin (CP). The biochemical liver function tests were normal. Genetic testing for hemochromatosis showed wild-type p.C282Y alleles and the heterozygous