Hyperzincemia with systemic inflammation: a heritable disorder of calprotectin metabolism with rheumatic manifestations?
A boy had infantile-onset systemic inflammation, growth failure, hepatosplenomegaly, anemia, leukocytopenia, progressive muscular dystrophy, and hypercalprotectinemia, resulting in marked hyperzincemia. His mother had a history of chronic arthritis since childhood and also showed hypercalprotectinemia/hyperzincemia. We postulate an inherent defect in calprotectin metabolism.
Saito
Yoshiaki
Y
Department of Pediatrics, Institute of Rheumatology, Tokyo Women's Medical University (TWMU), Japan.
Saito
Kayoko
K
Hirano
Yukiko
Y
Ikeya
Kiyoko
K
Suzuki
Haruko
H
Shishikura
Keiko
K
Manno
Sumie
S
Takakuwa
Yuichi
Y
Nakagawa
Kiyoshi
K
Iwasa
Aiko
A
Fujikawa
Satoshi
S
Moriya
Makoto
M
Mizoguchi
Nobuyuki
N
Golden
Barbara E
BE
Osawa
Makiko
M
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001171:Arthritis, Juvenile / Q000150:complications / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000378:metabolism*; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006529:Hepatomegaly; D006801:Humans; D039841:Leukocyte L1 Antigen Complex; D007970:Leukopenia / Q000150:complications; D008297:Male; D008562:Membrane Glycoproteins / Q000378:metabolism*; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics*; D009136:Muscular Dystrophies / Q000150:complications; D019006:Neural Cell Adhesion Molecules / Q000378:metabolism*; D013163:Splenomegaly; D015032:Zinc / Q000097:blood*
D002135:Calcium-Binding Proteins; D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D019006:Neural Cell Adhesion Molecules; D003402:Creatine Kinase; D015032:Zinc