KEGG   DISEASE: 脂肪萎縮症
エントリ  
H01475                                                             
名称    
脂肪萎縮症;
リポジストロフィー;
脂肪異栄養症
  下位グループ
先天性全身性リポジストロフィー [DS:H00419]
家族性部分性脂肪萎縮症 [DS:H00420]
下顎骨異形成 [DS:H00665]
後天性全身性脂肪萎縮症 [DS:H01474]
後天性部分性脂肪萎縮症
HIV 関連脂肪萎縮症
概要    
Lipodystrophies are a group of rare disorders characterized by selectively loss of fat tissue, which can be congential or acquired, and generalized or partial. People with the diseases more frequently appear severe metabolic abnormality including insulin resistance and its associated complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, polycystic ovaries, and acanthosis nigricans. Genetic predisposition to inherited lipodystrophies has been discovered. Compared with them, the causes of the acquired lipodystrophies are still unknown, but mainly related to autoimmune mechanism, medications or other unknown mechanisms.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  特定の皮膚構造が関与する皮膚疾患
   真皮及び皮下組織の疾患
    皮下脂肪の疾患
     EF01  リポアトロフィーまたはリポジストロフィー
      H01475  脂肪萎縮症
指定難病 [jp08407.html]
 H01475
治療薬   
メトレレプチン [DR:D05014]
コメント  
Lipodystrophy can be classified to the following subtypes.
Genetic forms: Congential generalized lipodystrophy (CGL), H00420 Familial partial lipodystrophy (FPL), H00665 Mandibuloacral dysplasia-associated lipodystrophy (MDAL)
Acquired forms: H01474 Acquired generalized lipodystrophy (AGL), Acquired partial, HIV-associated lipodystrophy
リンク   
ICD-11: EF01
MeSH: D008060
文献    
  著者
Garg A
  タイトル
Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.
  雑誌
J Clin Endocrinol Metab 96:3313-25 (2011)
DOI:10.1210/jc.2011-1159
文献    
  著者
Bindlish S, Presswala LS, Schwartz F
  タイトル
Lipodystrophy: Syndrome of severe insulin resistance.
  雑誌
Postgrad Med 127:511-6 (2015)
DOI:10.1080/00325481.2015.1015927
文献    
  著者
Tchang BG, Shukla AP, Aronne LJ
  タイトル
Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives.
  雑誌
Expert Opin Biol Ther 15:1061-75 (2015)
DOI:10.1517/14712598.2015.1052789
LinkDB    

» English version

DBGET integrated database retrieval system