Akuter Stoffwechselnotfall nach abgelehntem Neugeborenenscreening Kritisch kranker Säugling mit Hyperkaliämie, Hyponatriämie und auffälligem Genitale

被引：0

作者：

Leuschner, Ursula ^{[1
,2
]}

Engel, Carolin ^{[2
]}

Koevendy-Szabo, Vivien ^{[2
]}

机构：

[1] Univ Klin Tubingen, Klin Kinder & Jugendmedizin, Kinderheilkunde Hamatol Onkol Gastroenterol Nephro, Hoppe Seyler Str 1, D-72076 Tubingen, Germany

[2] Diakonie Klin Schwab Hall gGmbH, Klin Kinderheilkunde & Jugendmedizin, Schwabisch Hall, Germany

来源：

MONATSSCHRIFT KINDERHEILKUNDE | 2025年

关键词：

Salt-wasting crisis; Congenital adrenal hyperplasia; Hydrocortisone; Adrenal insufficiency; Virilization; CONGENITAL ADRENAL-HYPERPLASIA;

D O I：

10.1007/s00112-025-02162-4

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The proper care of a critically ill child in shock is elementary. This report discusses a 6-week-old infant who required intensive medical treatment due to an acute salt-wasting crisis resulting from undiagnosed adrenal genital syndrome (AGS) after declined neonatal screening. The classical congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency leads to adrenal insufficiency with cortisol deficiency as well as a variant of sexual development. This case report highlights the benefits of newborn screening to enable early diagnosis and prevent complications.

引用

页数：4

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