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...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| 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
|
| Verfasserangaben: | Ana Roche-Gomez, Diana Voskanyan, Joanna Śladowska-Kozłowska, Giulia Bassanese, Claus Peter Schmitt |
MARC
| LEADER | 00000naa a22000002c 4500 | ||
|---|---|---|---|
| 001 | 1935949187 | ||
| 003 | DE-627 | ||
| 005 | 20250915091154.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 250915s2025 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1007/s00467-025-06821-2 |2 doi | |
| 035 | |a (DE-627)1935949187 | ||
| 035 | |a (DE-599)KXP1935949187 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Roche-Gomez, Ana |e VerfasserIn |0 (DE-588)1376467836 |0 (DE-627)1935950665 |4 aut | |
| 245 | 1 | 0 | |a Bilateral renal vein thrombosis in a preterm with Netherton syndrome |c Ana Roche-Gomez, Diana Voskanyan, Joanna Śladowska-Kozłowska, Giulia Bassanese, Claus Peter Schmitt |
| 264 | 1 | |c 05 June 2025 | |
| 300 | |a 3 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 15.09.2025 | ||
| 520 | |a 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. | ||
| 650 | 4 | |a Acute kidney injury | |
| 650 | 4 | |a Hypernatremia | |
| 650 | 4 | |a Kidney vein thrombosis | |
| 650 | 4 | |a Netherton syndrome | |
| 700 | 1 | |a Voskanyan, Diana |e VerfasserIn |4 aut | |
| 700 | 1 | |a Śladowska-Kozłowska, Joanna |e VerfasserIn |0 (DE-588)1278569758 |0 (DE-627)1831477203 |4 aut | |
| 700 | 1 | |a Bassanese, Giulia |d 1985- |e VerfasserIn |0 (DE-588)120732163X |0 (DE-627)1693576201 |4 aut | |
| 700 | 1 | |a Schmitt, Claus P. |e VerfasserIn |0 (DE-588)1030179123 |0 (DE-627)734893620 |0 (DE-576)377990280 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Pediatric nephrology |d Berlin : Springer, 1987 |g (2025), Seite 1-3 |h Online-Ressource |w (DE-627)254638872 |w (DE-600)1463004-7 |w (DE-576)074531689 |x 1432-198X |7 nnas |a Bilateral renal vein thrombosis in a preterm with Netherton syndrome |
| 773 | 1 | 8 | |g year:2025 |g pages:1-3 |g extent:3 |a Bilateral renal vein thrombosis in a preterm with Netherton syndrome |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s00467-025-06821-2 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20250915 | ||
| 993 | |a Article | ||
| 994 | |a 2025 | ||
| 998 | |g 1030179123 |a Schmitt, Claus P. |m 1030179123:Schmitt, Claus P. |d 910000 |d 910500 |e 910000PS1030179123 |e 910500PS1030179123 |k 0/910000/ |k 1/910000/910500/ |p 5 |y j | ||
| 998 | |g 120732163X |a Bassanese, Giulia |m 120732163X:Bassanese, Giulia |d 910000 |d 910500 |e 910000PB120732163X |e 910500PB120732163X |k 0/910000/ |k 1/910000/910500/ |p 4 | ||
| 998 | |g 1278569758 |a Śladowska-Kozłowska, Joanna |m 1278569758:Śladowska-Kozłowska, Joanna |d 910000 |d 910500 |e 910000PS1278569758 |e 910500PS1278569758 |k 0/910000/ |k 1/910000/910500/ |p 3 | ||
| 999 | |a KXP-PPN1935949187 |e 4772254595 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"language":["eng"],"note":["Gesehen am 15.09.2025"],"person":[{"given":"Ana","display":"Roche-Gomez, Ana","family":"Roche-Gomez","role":"aut"},{"role":"aut","family":"Voskanyan","display":"Voskanyan, Diana","given":"Diana"},{"family":"Śladowska-Kozłowska","role":"aut","display":"Śladowska-Kozłowska, Joanna","given":"Joanna"},{"given":"Giulia","family":"Bassanese","role":"aut","display":"Bassanese, Giulia"},{"given":"Claus P.","display":"Schmitt, Claus P.","role":"aut","family":"Schmitt"}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"recId":"1935949187","id":{"eki":["1935949187"],"doi":["10.1007/s00467-025-06821-2"]},"name":{"displayForm":["Ana Roche-Gomez, Diana Voskanyan, Joanna Śladowska-Kozłowska, Giulia Bassanese, Claus Peter Schmitt"]},"origin":[{"dateIssuedDisp":"05 June 2025","dateIssuedKey":"2025"}],"relHost":[{"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title":"Pediatric nephrology","subtitle":"journal of the International Pediatric Nephrology Association","title_sort":"Pediatric nephrology"}],"part":{"extent":"3","text":"(2025), Seite 1-3","pages":"1-3","year":"2025"},"pubHistory":["1.1987 -"],"note":["Gesehen am 06.12.05"],"language":["eng"],"disp":"Bilateral renal vein thrombosis in a preterm with Netherton syndromePediatric nephrology","origin":[{"publisher":"Springer ; Springer","dateIssuedKey":"1987","publisherPlace":"Berlin ; Heidelberg ; Berlin ; Heidelberg ; New York, NY","dateIssuedDisp":"1987-"}],"recId":"254638872","id":{"eki":["254638872"],"zdb":["1463004-7"],"issn":["1432-198X"]},"type":{"bibl":"periodical","media":"Online-Ressource"}}],"title":[{"title_sort":"Bilateral renal vein thrombosis in a preterm with Netherton syndrome","title":"Bilateral renal vein thrombosis in a preterm with Netherton syndrome"}],"physDesc":[{"extent":"3 S."}]} | ||
| SRT | |a ROCHEGOMEZBILATERALR0520 | ||