Neonatale Cholestase. Hintergrund, Diagnostik und Therapie

Lurz, Eberhard und Bufler, Philip (2021): Neonatale Cholestase. Hintergrund, Diagnostik und Therapie. In: Monatsschrift Kinderheilkunde, Bd. 169, Nr. 3: S. 275-289

Abstract

Neonatal cholestasis (NC) is altogehter a rare disorder, but can be associated with lifethreatening diseases which could lead to liver failure. It is defined by either an elevated concentration of bile acids or direct hyperbilirubinemia, and is always pathologic. To classify direct hyperbilirubinemia in neonates and infants, it is essential to quickly rule out time sensitive differential diagnoses, such as the so-called Big Five (infections, hypothyroidism, biliary atresia, galactosemia, and tyrosinemia). At the beginning of the article a case report demonstrates a frequent dilemma in the work up of NC. In the second part of the article, various aspects of the available diagnostic tools, with a focus on molecular genetics, and treatment options are discussed. The clinically relevant symptoms and a list of known genetic disorders associated with NC are provided in easy to catch tables.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0026-9298
• Sprache: Deutsch