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Bilateral renal vein thrombosis in a preterm with Netherton syndrome

Netherton syndrome (NS) is a rare autosomal recessive syndrome caused by mutations in the serine protease inhibitor of the Kazal type 5 (SPINK5) gene. Patients are characterized by the classic triad of congenital ichthyosiform erythroderma, a hair shaft abnormality termed trichorrhexis invaginata an...

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Hauptverfasser: Roche-Gomez, Ana (VerfasserIn) , Voskanyan, Diana (VerfasserIn) , Śladowska-Kozłowska, Joanna (VerfasserIn) , Bassanese, Giulia (VerfasserIn) , Schmitt, Claus P. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 05 June 2025
In: Pediatric nephrology
Year: 2025, Pages: 1-3
ISSN:1432-198X
DOI:10.1007/s00467-025-06821-2
Online-Zugang:Verlag, kostenfrei, Volltext: https://doi.org/10.1007/s00467-025-06821-2
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Verfasserangaben:Ana Roche-Gomez, Diana Voskanyan, Joanna Śladowska-Kozłowska, Giulia Bassanese, Claus Peter Schmitt
Beschreibung
Zusammenfassung:Netherton syndrome (NS) is a rare autosomal recessive syndrome caused by mutations in the serine protease inhibitor of the Kazal type 5 (SPINK5) gene. Patients are characterized by the classic triad of congenital ichthyosiform erythroderma, a hair shaft abnormality termed trichorrhexis invaginata and atopic diathesis. These children require meticulous fluid and salt control from the first day of life to prevent kidney damage due to the defective skin barrier.
Beschreibung:Gesehen am 15.09.2025
Beschreibung:Online Resource
ISSN:1432-198X
DOI:10.1007/s00467-025-06821-2

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