A Case of Familial Lecithin-cholesterol Acyltransferase (LCAT) Deficiency
Journal of the Korean Ophthalmological Society
; : 831-834, 2008.
Article
de Ko
| WPRIM
| ID: wpr-82148
Bibliothèque responsable:
WPRO
ABSTRACT
PURPOSE: To report a case of a familial lecithin cholesterol acyltransferase (LCAT) deficiency patient with bilateral corneal opacities. CASE SUMMARY: A 26-year-old man with bilateral corneal opacities visited our hospital. We took slit lamp examination, corneal thickness measurement, corneal endothelial cell counts and fundus examination. Blood and urine tests were included. Kidney biopsy was done. The tissues were observed by a light microscopy and an electron microscopy. Hemolytic anemia, proteinuria, hematuria, hypertriglyceridemia, decreased HDL cholesterol level, and lecithin cholesterol acyltransferase (LCAT) deficiency were found. At kidney biopsy, electron-lucent vacuoles and lamellar inclusion body were found. CONCLUSIONS: Bilateral corneal opacities can be an imporant clinical sign of systemic disease which is caused by abnormal lipid metabolism like the familial lecithin cholesterol acyltransferase (LCAT) deficiency.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Protéinurie
/
Vacuoles
/
Biopsie
/
Microscopie électronique
/
Hypertriglycéridémie
/
Corps d'inclusion
/
Opacité cornéenne
/
Cellules endothéliales
/
Métabolisme lipidique
/
Pachymétrie cornéenne
Limites du sujet:
Adult
/
Humans
langue:
Ko
Texte intégral:
Journal of the Korean Ophthalmological Society
Année:
2008
Type:
Article