Hiperplazia corticosuprarenală congenitală la sugari

Raba Tatiana; Chiriac Adrian; Fortuna Angela; Jivalcovschi Ala; Antoci Lilian

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2024-05-27 21:34

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RABA, Tatiana, CHIRIAC, Adrian, FORTUNA, Angela, JIVALCOVSCHI, Ala, ANTOCI, Lilian. Hiperplazia corticosuprarenală congenitală la sugari. In: Curierul Medical, 2008, nr. 6(306), pp. 36-38. ISSN 1875-0666.

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Curierul Medical

Numărul 6(306) / 2008 / ISSN 1875-0666

Hiperplazia corticosuprarenală congenitală la sugari

Congenital Adrenal Hyperplasia in Infants

Врожденная гиперплазия коры надпочечников у грудных детей

Pag. 36-38

Raba Tatiana¹, Chiriac Adrian¹, Fortuna Angela², Jivalcovschi Ala², Antoci Lilian²

¹ Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“,
² IMSP Spitalul Republican pentru copii „Emilian Coţaga“

Disponibil în IBN: 25 februarie 2021

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Rezumat

Congenital adrenal hyperplasia is an autosomal recessive hereditary disease caused by genetic defects which interfere with normal steroidogenesis. Onset is heralded by salt-wasting which typically appears itself in the first few weeks of life, and which creates a diagnostic challenge. Gluco- and mineralocorticoid therapy provides positive results in all cases. This article documents a case of a congenital adrenal hyperplasia in a one-month-old child brought to our clinic.

Врожденная гиперплазия коры надпочечников – это группа аутосомно-рецессивных наследственных болезней, обусловленных генетическими дефектами ферментов стероидогенеза. Сольтеряющая форма дебютирует у грудных детей и создаёт большие диагностические трудности для врачей педиатров. Правильная заместительная глюко- и минералкортикоидная терапия обеспечивает положительную динамику во всех случяев. Представляется клинический случай врожденной гиперплазии коры надпочечников у грудного ребёнка.

Cuvinte-cheie
congenital adrenal hyperplasia, pseudohermafroditism, hyperkalemia,

гиперплазия коры надпочечников, псеудогермафродитизм

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