title: Familial LCAT deficiency in a child with nephrotic syndrome.
abstract: BACKGROUND
  Lecitin cholesterol acyltransferase (LCAT) deficiency comprises a group of rare disorders related to HDL metabolism. These disorders are characterized by ophthalmologic, hematologic, and renal findings. Case diagnosis/treatment: A 15-year-old female who presented with nephrotic syndrome and hypertension was diagnosed with LCAT deficiency by renal biopsy and LCAT enzyme activity. Her edema and hypertension improved with diuretic and antihypertensive therapies. Continued care of her LCAT deficiency is ongoing.
  
  
  CONCLUSIONS
  Although rare, LCAT deficiency should be in the differential diagnosis of nephrotic syndrome in the setting of abnormally low HDL cholesterol levels.
authors: Jurat S
authors: JS
authors: Rajpal
authors: James
authors: J
authors: Mapel-Lentz
authors: Alejandra Decanini
authors: AD
authors: Mancera
authors: Robyn C
authors: RC
authors: Reed
authors: Youngki
authors: Y
authors: Kim
authors: Blanche M
authors: BM
authors: Chavers
mesh_terms: D000293:Adolescent; D000959:Antihypertensive Agents / Q000627:therapeutic use; D001706:Biopsy; D004232:Diuretics / Q000627:therapeutic use; D004487:Edema / Q000209:etiology; D005260:Female; D006801:Humans; D006973:Hypertension / Q000209:etiology; D007668:Kidney / Q000473:pathology; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D008055:Lipids / Q000097:blood; D009404:Nephrotic Syndrome / Q000097:blood / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy
chemical_list: D000959:Antihypertensive Agents; D004232:Diuretics; D008055:Lipids