| dc.description.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, ... | en_US |
