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Titre du document / Document title

A case of hyperzincemia with functional zinc depletion : A new disorder?

Auteur(s) / Author(s)

SAMPSON B. (1) ; KOVAR I. Z. (2) ; RAUSCHER A. (3) ; FAIRWEATHER-TAIT S. (3) ; BEATTIE J. (4) ; MCARDLE H. J. (5) ; AHMED R. (2) ; GREEN C. (2) ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

(1) Department of Chemical Pathology, Charing Cross Hospital, London, W6 8RF, ROYAUME-UNI
(2) Department of Paediatrics, Chelsea and Westminster Hospital, London, SW10 9NH, ROYAUME-UNI
(3) Division of Mineral Metabolism, Institute of Food Research, Norwich, NR4 7UA, ROYAUME-UNI
(4) Division of Biochemical Sciences, Rowett Research Institute, Bucksburn, Aberdeen, AB2 9SB, ROYAUME-UNI
(5) Department of Child Health, Ninewells Hospital and Medical School, Dundee, DD1 9SY, ROYAUME-UNI

Résumé / Abstract

We report the case of an 11-y-old boy with a plasma Zn concentration greater than 200 μmol/L, but with symptoms consistent with Zn deficiency. He has had hepatosplenomegaly, rashes, stunted growth (<3rd centile), anemia, and impaired immune function since infancy. He also has vasculitis and os-teoporosis. A plasma Zn-binding protein has been separated and characterized by a combination of size exclusion and ion exchange chromatography and electrophoretic studies and by immunologic methods. Antibodies to the partially purified protein have been raised in rabbits. Size exclusion chromatography shows that Zn is bound to a protein with a mass 110 000-300 000 kD. Electrophoretic and mass spectrometry studies sug-gest that the protein may be composed of several subunits. One component of the isolated protein reacts with antiserum to α2-macroglobulin; immunoprecipitation studies confirm that the protein is not α2-macroglobulin or a histidine-rich glycoprotein. Kinetic studies of zinc metabolism in the patient and his mother with stable Zn isotopes show the presence of increased exchangeable Zn, with a rapid flux from plasma to a stable pool. Liver and muscle Zn and Cu concentrations are raised, but with no abnormal liver histology. Immunoreactive metallothionein in the liver is increased. We suggest that this boy may suffer from a previously unrecognized inborn error of Zn metabolism caus-ing symptomatic zinc deficiency.

Revue / Journal Title

Pediatric research    ISSN  0031-3998   CODEN PEREBL 

Source / Source

1997, vol. 42, no2, pp. 216-225 (29 ref.)

Langue / Language

Anglais

Editeur / Publisher

Lippincott Williams & Wilkins, Hagerstown, MD, ETATS-UNIS  (1967) (Revue)

Mots-clés anglais / English Keywords

Deficiency

;

Zinc

;

Differential diagnostic

;

Case study

;

Child

;

Genetic disease

;

Metabolic diseases

;

Human

;

Mots-clés français / French Keywords

Déficit

;

Zinc

;

Diagnostic différentiel

;

Etude cas

;

Enfant

;

Maladie héréditaire

;

Métabolisme pathologie

;

Hyperzincémie

;

Homme

;

Mots-clés espagnols / Spanish Keywords

Déficiencia

;

Zinc

;

Diagnóstico diferencial

;

Estudio caso

;

Niño

;

Enfermedad hereditaria

;

Metabolismo patología

;

Hombre

;

Localisation / Location

INIST-CNRS, Cote INIST : 3956, 35400006774815.0140

Nº notice refdoc (ud4) : 2747383



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