'n Klinies-diagnostiese ondersoek na persoonlikheidsaspekte van twee groepe porfirie-lyers

Abstract

Porphyria, a metabolic aberrant condition which is transmitted genetically from one generation to the next, is also often called the disease that strikes in the dark. Because the number of sufferers of porphyria in the Republic of South Africa has shown a significant increase, there is a growing amount of interest not only in the nature of the disease and the specific symptomatology, but by implication also in concrete rendition of aid. The latter ineludes amongs others complete diagnosis of ill facets of the problem. Intensive work has already been done on the basic principles of heredity which play a role here, as well as on symptoms of a more. physical or somatic nature. Although there are frequent references in available literature on emotional problems as a part of the total symtornatology of the porphyria sufferer, it is on the one hand disappointingly vague and on the other hand no effort has been made in the RSA to delineate and confirm these references more clearly through exnpirical study. It has therefore become the objective of this study to investigate in a scientifically-founded manner the total personality of a combined group of South African porphyria sufferers, and to compare and evaluate the findings normatively.

Survey of literature - After defining certain key concepts (such as porphyria, metabolism, porphyrins, porphyrin predecessors) the following varieties of porphyria were distinguished and described: Erythropoietic porphyria (including congenital Erythropoietic porphyria, Erythropoietic proto-prophyria, Erythropoietic copro-porphyria) and Hepatic porphyria (including acute intermittent porphyria, porphyria variegata, hereditary copro-por~hyria, porphyria cutanea tarda and experimental porphyria). References to this disease go back to the sixteenth century: King James I of England (1566-1625) revealed symptoms strongly reminiscent of this disease. The origin of porphyria in South Africa can be traced to a Free Burgher farmer at the Cape (at the end of the seventeenth century), to wit Gerrit Jansz and Ariaantje Jacobs, from whose marriage four porphyria sufferers were born: Jaco-mijntje, Aletta, Johanna and Jacobus. Their issue in turn, together with the rest of the population, occupied the country systematically (in an eastern and a northern direction) and transmitted the metabolic defect along the same line. At present the disease occurs in 10 000, or one out of every 200 among the Afrikaans-speaking population. In certain families (with certain family names) it occurs with particular frequency (for example Van Rooyen, Potgieter, Ferreira, Barnard, Van Niekerk, Nel, Jerling-, Kok, Van der Vyver, Knoetze, Redelinghuys and Snyman). This does not have conclusive diagnostic significance,

however. After a brief survey of the basic genetic principles, there is reference to the fact that most forms of porphyria are transmitted to the next generation according to the principle of autosomal dominance. This implies that: heredity occurs in successive .. generations (therefore it is not latent): each of the children will have a 501 chance of contracting the disease: there are no sex differences or preferences; children of unaffected individuals cannot inherit the defect. Symptomatological indications of the presence of porphyria might include the following: abdominal pain, photo-sensitivity and other skin problems, hair abnormalities, paradoxical reactions to alcohol ingestion, neurological flare-ups, deviations as regards findings in urine and faecal analyses, hepatic deviations, decrease in blood volume and sometimes drastic weight loss. Indications of emotional and· psychological reaction noticed in passing by other researchers include confusion, ...