Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim-Chester Disease (ECD).

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Tác giả: Rahul H Dave, Juvianee Estrada-Veras, William A Gahl, Fady Hannah-Shmouni, Kevin O'Brien, Nicholas Patronas, Skand Shekhar, Sonal Vaid

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: Switzerland : Cancers , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 704564

 PURPOSE: Erdheim-Chester disease (ECD) is an L Group Langerhans histiocytosis associated with pathogenic variants within the MAPK pathways, most commonly the METHODS: A cross-sectional descriptive study of 61 subjects with ECD was conducted at a clinical research center from January 2011 to December 2018, with molecular genetics, baseline biochemical and pituitary endocrine function studies, and dedicated pituitary MRI (or CT) studies. AVP-D and anterior pituitary endocrinopathies (hypothyroidism, hypogonadism, adrenal insufficiency and panhypopituitarism) were assessed. Students' RESULTS: In total, 22 out of 61 subjects (36%
  19 males and 3 females) had AVP-D
  18 subjects with AVP-D were in active treatment with desmopressin. Those with versus without AVP-D were younger [mean (±SD): 50.00 (±10.45) vs. 56.72 (±10.45) years], had higher prevalence of CONCLUSIONS: AVP-D is common in ECD and accompanied by a higher burden of pituitary endocrinopathies,
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