Tissue Copper Concentrations of Patients With Menkes' Kinky Hair Disease

1981; American Medical Association; Volume: 135; Issue: 4 Linguagem: Inglês

10.1001/archpedi.1981.02130280065022

ISSN

1538-3628

Autores

Darryl M. Williams,

Tópico(s)

Contact Dermatitis and Allergies

Resumo

Danks et al 1 showed that Menkes' kinky hair disease (MKHD) is characterized by malabsorption of copper in association with certain symptoms of copper deficiency. Several lines of evidence now suggest that MKHD involves maldistribution rather than just malabsorption and deficiency of copper. First, in contrast to effective therapy for nutritionally copper-deficient infants, 2 parenteral copper supplementation for patients with MKHD failed to effect improvements other than production of normocupremia and darkening of hair. 1,3,4 Second, fibroblasts from patients with MKHD in tissue culture accumulated much more copper than did controls. 5 Third, organ-specific accumulation and deficiencies of copper were found in three cases reported by a Danish group 6,7 ; and fourth, similar anomalies were found in a supposed mouse analogue of MKHD. 8 One of the Danish cases, a suspected MKHD fetus, had order of magnitude elevations of copper levels in kidney, spleen, pancreas, and placenta; slight elevations of

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