Document Detail

A case of familial lecithin-cholesterol acyltransferase deficiency on hemodialysis for over 20 years.
MedLine Citation:
PMID:  22105454     Owner:  NLM     Status:  In-Data-Review    
We trace the 34-year history of a member of the first Japanese family in which lecithin-cholesterol acyltransferase (LCAT) deficiency was diagnosed. Marriage between cousins with low LCAT activity was responsible for familial LCAT deficiency (FLD). In 1976, a 27-year-old Japanese man was noted to have FLD based on proteinuria, hematuria, grayish corneal opacity and low LCAT activity (9.83%). Genetic analysis showed insertion of G-G-C coding glycine at codon 141. Total cholesterol (C) was low at 108 mg/dl and the ratio of C-ester to total C was very low (12%), while the lecithin (phosphatidylcholine) level was very high (97.3%). When his serum creatinine reached 2.6 mg/dl at the age of 41 years (in 1991), renal biopsy was performed. This showed expansion of the mesangial matrix and irregularly thickened capillary walls with a bubble-like appearance because of lipid deposits consisting of two components (partly lucent vacuolated areas and partly deeply osmiophilic areas). Magnification of the latter deposits showed curvilinear and serpiginous striated membranous structure. Hemodialysis was started in 1990 and has been continued for over 20 years until August 2010. Clinical problems have included AV shunt failure requiring 4 operations and 13 percutaneous transcatheter angioplasty procedures, as well as episodes of hemolytic anemia that subsided after infusion of fresh frozen plasma. Cardiovascular events have not yet occurred, although severe calcification of abdominal aorta has been detected by computed tomography.
Y Tsuchiya; Y Ubara; R Hiramatsu; T Suwabe; J Hoshino; K Sumida; E Hasegawa; M Yamanouchi; N Hayami; Y Marui; N Sawa; S Hara; K Takaichi; K Oohashi
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical nephrology     Volume:  76     ISSN:  0301-0430     ISO Abbreviation:  Clin. Nephrol.     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2011-11-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0364441     Medline TA:  Clin Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  492-8     Citation Subset:  IM    
Nephrology Center and Department of Pathology, Toranomon Hospital Kajigaya, Takatsu, Kanagawa, Japan.
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