内瑟顿综合征早产儿双侧肾静脉血栓形成。

IF 2.6 3区医学 Q1 PEDIATRICS

Pediatric Nephrology Pub Date : 2025-11-01 Epub Date: 2025-06-05 DOI:10.1007/s00467-025-06821-2

Ana Roche-Gomez, Diana Voskanyan, Joanna Śladowska-Kozłowska, Giulia Bassanese, Claus Peter Schmitt

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引用次数: 0

摘要

内瑟顿综合征（NS）是一种罕见的常染色体隐性综合征，由Kazal 5型丝氨酸蛋白酶抑制剂（SPINK5）基因突变引起。患者的特点是典型的先天性鱼鳞样红皮病，一种毛干异常称为内伏性毛癣和特应性素质。这些孩子从出生的第一天起就需要严格控制水分和盐分，以防止皮肤屏障缺陷造成肾脏损伤。

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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 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.

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来源期刊

Pediatric Nephrology 医学-泌尿学与肾脏学

CiteScore

4.70

自引率

20.00%

发文量

465

审稿时长

1 months

期刊介绍： International Pediatric Nephrology Association Pediatric Nephrology publishes original clinical research related to acute and chronic diseases that affect renal function, blood pressure, and fluid and electrolyte disorders in children. Studies may involve medical, surgical, nutritional, physiologic, biochemical, genetic, pathologic or immunologic aspects of disease, imaging techniques or consequences of acute or chronic kidney disease. There are 12 issues per year that contain Editorial Commentaries, Reviews, Educational Reviews, Original Articles, Brief Reports, Rapid Communications, Clinical Quizzes, and Letters to the Editors.