Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka = Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia
2018
Absztrakt: A congenitalis adrenalis hyperplasiat 7 monogenes genetikai betegseg
osszessegenek tekintjuk, melyekből az egyik a
szteroid-21-hidroxilaz-deficientia. A congenitalis adrenalis hyperplasia osszes
koroki genje a mellekvese szteroidogeneziseben vesz reszt. A
szteroid-21-hidroxilaz-deficientia autoszomalis recessziv betegseg, amelyert a
szteroid-21-hidroxilazt kodolo gen mutacioi a felelősek. A
szteroid-21-hidroxilaz gen mutacioi a congenitalis adrenalis hyperplasias esetek
95%-at okozzak. Bar az enyhe tunetekkel egyutt jaro nem-klasszikus
szteroid-21-hidroxilaz-deficientiat ritkan diagnosztizaljak, a klasszikus
szteroid-21-hidroxilaz-deficientia az aldoszteron- es a kortizolelvalasztas
elegtelensege miatt eletveszelyes sovesztő es adrenalis krizissel jarhat egyutt.
A klasszikus tipus elethosszig tarto szteroidpotlast igenyel, amely cushingoid
mellekhatasokkal jarhat egyutt, illetve a betegseg talajan jellemző
komorbiditasok szinten kialakulhatnak. A betegek eletminősege csokkent,
mortalitasuk tobbszorose a betegsegben nem szenvedő populacionak. A betegseg
diagnosztikaja, kovetkezmenyei es a betegek egesz eletet vegigkiserő klinikai
ellatas multidiszciplinaris megkozelitest kivan: a gyermekgyogyaszat, a
belgyogyaszat, az endokrinologia, a laboratoriumi medicina, a genetikai
diagnosztika, a sebeszet, a szuleszet-nőgyogyaszat es a pszichologia
szakembereinek egyuttes munkajat igenyli. Orv Hetil. 2018; 159(7): 269–277.
| Abstract: Congenital adrenal hyperplasia is a group of genetic diseases due to the
disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The
genes of congenital adrenal hyperplasia encode enzymes taking part in the
steroidogenesis of adrenal gland. Steroid 21-hydroxylase deficiency is an
autosomal recessive disorder caused by mutations of the steroid 21-hydroxylase
gene. The mutations of steroid 21-hydroxylase gene cause 95% of the congenital
adrenal hyperplasia cases. Although the non-classic steroid 21-hydroxylase
deficiency with mild symptoms is seldom diagnosed, the classic steroid
21-hydroxylase deficiency may lead to life-threatening salt-wasting and adrenal
crises due to the insufficient aldosterone and cortisol serum levels. The
classic type requires life-long steroid replacement which may result in
cushingoid side effects, and typical comorbidities may be also developed. The
patients’ quality of life is decreased, and their mortality is much higher than
that of the population without steroid 21-hydroxylase deficiency. The diagnosis,
consequences and the patients’ life-long clinical care require a
multidisciplinary approach: the specialists in pediatrics, internal medicine,
endocrinology, laboratory medicine, genetic diagnostics, surgery,
obstetrics-gynecology and psychology need to work together. Orv Hetil. 2018;
159(7): 269–277.
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