Document Detail


Familial LCAT deficiency in a child with nephrotic syndrome.
MedLine Citation:
PMID:  23391322     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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. Conclusion: 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 Rajpal; James Mapellentz; Alejandra Decanini Mancera; Robyn C Reed; Youngki Kim; Blanche M Chavers
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-2-8
Journal Detail:
Title:  Clinical nephrology     Volume:  -     ISSN:  0301-0430     ISO Abbreviation:  Clin. Nephrol.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-2-8     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0364441     Medline TA:  Clin Nephrol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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