LCAT deficiency

LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.

Hypertension

The presence of chronic increased pressure in the systemic arterial system.


合計: 1

                       


（表示件数）
PMID (PMCID)
23391322
 FEMALE
Familial LCAT deficiency in a child with nephrotic syndrome.
Rajpal JS, Mapel-Lentz J, Mancera AD, Reed RC, Kim Y, Chavers BM.
Clin Nephrol. 2014;82(3):211-4.
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.