RESUMO
The chronic mon neuropathic form of gaucher disease bas been encountered in 10 individuais in the afrikaner population of South Africa. The minimum prevalence in this community is 1 in 200000 with a gene frequency of 0,0022 a heterozygote rate of 0,0044 and at least 9000 clinicaly asymptomatic carriers of the abnormal gene. This gene must be preent in about 1 in every 220 afrikaners.The majirith of previously reported patients have been ashkenzi lews in whom the condition is relatively bening. By contrast the disorder in the afrikaners is progression. The occurrence of gaucher disese in a relatively high frequency in the afrikaner population is important in terms of differentiasl diagnosis genetic couselling and prevention.
Assuntos
Humanos , Doença de Gaucher/cirurgia , Doença de Gaucher/classificação , Doença de Gaucher/complicações , Doença de Gaucher/etnologia , Doença de Gaucher/genética , Doença de Gaucher/terapia , África do Sul/epidemiologiaRESUMO
This paper reports radiological findings in a series of 17 South African patients with chronic (adult or non-neuronopathic) Gaucher's disease. Osteoarticular signs are briefly analysed on the basis of their pathogenesis. The visceral findings included an enormous calcified spleen and three cases with pulmonary lesions. Important advances have been made recently in diagnosing. Gaucher's disease and detecting carriers by demonstration of deficiency of beta-glucosidase. Radiographs are not diagnostic, but they may provide valuable clues to the nature and extent of lesions in bone, and they are essential in orthopaedic management of Gaucher's disease.